LongevityMap variant group
Entry Details
- Longevity Association
- Non-significant
- Population
- Italian (Southern)
- Study Design
- A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
- Conclusions
- After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
Variants (316)
- Gene summary:
- No gene (7)
- ACACA (3)
- AKT1 (1)
- ANKK1 (1)
- ANKRD24 (1)
- APEX1 (1)
- ARNTL (4)
- ATM (5)
- ATR (3)
- BAD (1)
- BAX (2)
- C17orf78 (1)
- CAT (6)
- CCND1 (2)
- CD14 (1)
- CDKN1B (3)
- CDKN2A (4)
- CLOCK (1)
- CPT1A (3)
- CSHL1 (1)
- CXCL8 (2)
- CYP2A7P1 (1)
- CYP2B6 (4)
- CYP2D6 (5)
- DRD2 (2)
- DRD4 (3)
- EGF (8)
- ERBB2 (3)
- ERCC1 (4)
- ERCC2 (8)
- ERCC5 (6)
- FOXO1 (2)
- FOXO3 (3)
- FOXO4 (3)
- GADD45A (1)
- GDPD3 (1)
- GH1 (1)
- GHR (2)
- GRB2 (3)
- GSTA3 (1)
- GSTA4 (5)
- GSTZ1 (3)
- HNMT (3)
- HRAS (1)
- HTR2A (2)
- IFNG (1)
- IGF1 (4)
- IGF1R (4)
- IGF2 (3)
- IGFALS (3)
- IGFBP1 (1)
- IGFBP3 (2)
- IL10 (6)
- IL12B (1)
- IL1A (3)
- IL1B (4)
- IL2 (1)
- IL6 (2)
- INS (1)
- INS-IGF2 (1)
- INSR (4)
- IRS1 (3)
- JAK2 (3)
- LEP (4)
- LEPR (4)
- LOC101059906 (1)
- LOC105375091 (1)
- LOC107987209 (1)
- LRRC56 (1)
- MAP2K1 (3)
- MAP3K7 (5)
- MAPK3 (2)
- MBD1 (1)
- MBD2 (2)
- MDM2 (1)
- MKRN2 (1)
- MTOR (3)
- NAT1 (2)
- NAT2 (2)
- NBN (3)
- NFAT5 (1)
- NNMT (3)
- NQO1 (3)
- NTRK1 (2)
- OGG1 (2)
- PDPK1 (3)
- PER1 (1)
- PER2 (1)
- PER3 (1)
- PIK3CA (3)
- PIK3R1 (4)
- POMC (1)
- PON1 (3)
- PON2 (4)
- PPARA (3)
- PPARGC1A (4)
- PPP1R9A (2)
- PRKAA1 (4)
- PRKCA (4)
- PRKCB (2)
- PTPN11 (3)
- RAF1 (3)
- RASA1 (3)
- RPTOR (5)
- SCAF4 (1)
- SHC1 (3)
- SLC2A4 (4)
- SLC6A3 (1)
- SOCS1 (2)
- SOD1 (2)
- SOD2 (3)
- SOD3 (3)
- SOS1 (3)
- SULT1A1 (2)
- SULT1A2 (3)
- TAB1 (1)
- TGFB1 (5)
- TH (1)
- TNF (2)
- TP53 (3)
No gene
ACACA
Gene details
- HGNC symbol
- ACACA
- Aliases
- ACC; ACAC; ACC1; ACCA; ACACAD
- Common name
- acetyl-CoA carboxylase alpha
- Description
- Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 200350
- Ensembl
- ENSG00000278540
- UniProt/Swiss-Prot
- A0A024R0Y2_HUMAN
- Entrez Gene
- 31
- UniGene
- 160556
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge model organism genes
- A homolog of this gene for Saccharomyces cerevisiae is present as HFA1
AKT1
Gene details
- HGNC symbol
- AKT1
- Aliases
- AKT; PKB; RAC; CWS6; PRKBA; PKB-ALPHA; RAC-ALPHA
- Common name
- AKT serine/threonine kinase 1
- Description
- The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011]
- Other longevity studies of this gene
- 9
- OMIM
- 164730
- Ensembl
- ENSG00000142208
- UniProt/Swiss-Prot
- AKT1_HUMAN
- Entrez Gene
- 207
- UniGene
- 525622
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
ANKK1
Gene details
- HGNC symbol
- ANKK1
- Aliases
- PKK2
- Common name
- ankyrin repeat and kinase domain containing 1
- Description
- The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]
- OMIM
- 608774
- Ensembl
- ENSG00000170209
- UniProt/Swiss-Prot
- ANKK1_HUMAN
- Entrez Gene
- 255239
- UniGene
- 448473
- HapMap
- View on HapMap
Homologs in model organisms
ANKRD24
Gene details
- HGNC symbol
- ANKRD24
- Aliases
- Common name
- ankyrin repeat domain 24
- Description
- OMIM
- Ensembl
- ENSG00000089847
- UniProt/Swiss-Prot
- ANR24_HUMAN
- Entrez Gene
- 170961
- UniGene
- 197872
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- ankrd24
- Mus musculus
- Ankrd24
- Rattus norvegicus
- uncharacterized_D3Z9
APEX1
Gene details
- HGNC symbol
- APEX1
- Aliases
- APE; APX; APE1; APEN; APEX; HAP1; REF1
- Common name
- apurinic/apyrimidinic endodeoxyribonuclease 1
- Description
- Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 107748
- Ensembl
- ENSG00000100823
- UniProt/Swiss-Prot
- APEX1_HUMAN
- Entrez Gene
- 328
- UniGene
- 73722
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
ARNTL
Gene details
- HGNC symbol
- ARNTL
- Aliases
- TIC; JAP3; MOP3; BMAL1; PASD3; BMAL1c; bHLHe5
- Common name
- aryl hydrocarbon receptor nuclear translocator like
- Description
- The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
- Other longevity studies of this gene
- 3
- OMIM
- 602550
- Ensembl
- ENSG00000133794
- UniProt/Swiss-Prot
- A0A140VKD3_HUMAN
- Entrez Gene
- 406
- UniGene
- 65734
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
ATM
Gene details
- HGNC symbol
- ATM
- Aliases
- AT1; ATA; ATC; ATD; ATE; ATDC; TEL1; TELO1
- Common name
- ATM serine/threonine kinase
- Description
- The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]
- Other longevity studies of this gene
- 14
- OMIM
- 607585
- Ensembl
- ENSG00000149311
- UniProt/Swiss-Prot
- A0A024R3C7_HUMAN
- Entrez Gene
- 472
- UniGene
- 367437
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
ATR
Gene details
- HGNC symbol
- ATR
- Aliases
- FRP1; MEC1; SCKL; FCTCS; SCKL1
- Common name
- ATR serine/threonine kinase
- Description
- The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 10
- OMIM
- 601215
- Ensembl
- ENSG00000175054
- UniProt/Swiss-Prot
- ATR_HUMAN
- Entrez Gene
- 545
- UniGene
- 271791
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- atr
- Drosophila melanogaster
- mei-41
- Mus musculus
- Atr
- Rattus norvegicus
- Atr
- Saccharomyces cerevisiae
- MEC1
- Schizosaccharomyces pombe
- rad3
In other databases
BAD
Gene details
- HGNC symbol
- BAD
- Aliases
- BBC2; BCL2L8
- Common name
- BCL2 associated agonist of cell death
- Description
- The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. [provided by RefSeq, Jul 2008]
- OMIM
- 603167
- Ensembl
- ENSG00000002330
- UniProt/Swiss-Prot
- A0A024R562_HUMAN
- Entrez Gene
- 572
- UniGene
- 370254
- HapMap
- View on HapMap
Homologs in model organisms
BAX
Gene details
- HGNC symbol
- BAX
- Aliases
- BCL2L4
- Common name
- BCL2 associated X, apoptosis regulator
- Description
- The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 1
- OMIM
- 600040
- Ensembl
- ENSG00000087088
- UniProt/Swiss-Prot
- BAX_HUMAN
- Entrez Gene
- 581
- UniGene
- 624291
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
C17orf78
Gene details
- HGNC symbol
- C17orf78
- Aliases
- Common name
- chromosome 17 open reading frame 78
- Description
- OMIM
- Ensembl
- ENSG00000278505
- UniProt/Swiss-Prot
- CQ078_HUMAN
- Entrez Gene
- 284099
- UniGene
- 439154
- HapMap
- View on HapMap
Homologs in model organisms
- Mus musculus
- Gm11437
- Rattus norvegicus
- LOC100361746
CAT
Gene details
- HGNC symbol
- CAT
- Aliases
- Common name
- catalase
- Description
- This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009]
- Other longevity studies of this gene
- 17
- OMIM
- 115500
- Ensembl
- ENSG00000121691
- UniProt/Swiss-Prot
- CATA_HUMAN
- Entrez Gene
- 847
- UniGene
- 502302
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- ctl-3
- Danio rerio
- cat
- Drosophila melanogaster
- CG9314
- Mus musculus
- Cat
- Rattus norvegicus
- Cat
- Saccharomyces cerevisiae
- CTA1
- Schizosaccharomyces pombe
- cta1
In other databases
CCND1
Gene details
- HGNC symbol
- CCND1
- Aliases
- BCL1; PRAD1; U21B31; D11S287E
- Common name
- cyclin D1
- Description
- The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of tumors and may contribute to tumorigenesis. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 1
- OMIM
- 168461
- Ensembl
- ENSG00000110092
- UniProt/Swiss-Prot
- CCND1_HUMAN
- Entrez Gene
- 595
- UniGene
- 523852
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
CD14
Gene details
- HGNC symbol
- CD14
- Aliases
- Common name
- CD14 molecule
- Description
- The protein encoded by this gene is a surface antigen that is preferentially expressed on monocytes/macrophages. It cooperates with other proteins to mediate the innate immune response to bacterial lipopolysaccharide. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Mar 2010]
- Other longevity studies of this gene
- 5
- OMIM
- 158120
- Ensembl
- ENSG00000170458
- UniProt/Swiss-Prot
- CD14_HUMAN
- Entrez Gene
- 929
- UniGene
- 163867
- HapMap
- View on HapMap
Homologs in model organisms
CDKN1B
Gene details
- HGNC symbol
- CDKN1B
- Aliases
- KIP1; MEN4; CDKN4; MEN1B; P27KIP1
- Common name
- cyclin dependent kinase inhibitor 1B
- Description
- This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014]
- Other longevity studies of this gene
- 2
- OMIM
- 600778
- Ensembl
- ENSG00000111276
- UniProt/Swiss-Prot
- CDN1B_HUMAN
- Entrez Gene
- 1027
- UniGene
- 238990
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge
- This gene is present as CDKN1B
CDKN2A
Gene details
- HGNC symbol
- CDKN2A
- Aliases
- ARF; MLM; P14; P16; P19; CMM2; INK4; MTS1; TP16; CDK4I; CDKN2; INK4A; MTS-1; P14ARF; P19ARF; P16INK4; P16INK4A; P16-INK4A
- Common name
- cyclin dependent kinase inhibitor 2A
- Description
- This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012]
- Other longevity studies of this gene
- 3
- OMIM
- 600160
- Ensembl
- ENSG00000147889
- UniProt/Swiss-Prot
- ARF_HUMAN
- Entrez Gene
- 1029
- UniGene
- 512599
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
In other databases
CLOCK
Gene details
- HGNC symbol
- CLOCK
- Aliases
- KAT13D; bHLHe8
- Common name
- clock circadian regulator
- Description
- The protein encoded by this gene plays a central role in the regulation of circadian rhythms. The protein encodes a transcription factor of the basic helix-loop-helix (bHLH) family and contains DNA binding histone acetyltransferase activity. The encoded protein forms a heterodimer with ARNTL (BMAL1) that binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Polymorphisms in this gene may be associated with behavioral changes in certain populations and with obesity and metabolic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
- OMIM
- 601851
- Ensembl
- ENSG00000134852
- UniProt/Swiss-Prot
- CLOCK_HUMAN
- Entrez Gene
- 9575
- UniGene
- 436975
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
CPT1A
Gene details
- HGNC symbol
- CPT1A
- Aliases
- CPT1; CPT1-L; L-CPT1
- Common name
- carnitine palmitoyltransferase 1A
- Description
- The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 600528
- Ensembl
- ENSG00000110090
- UniProt/Swiss-Prot
- A0A024R5F4_HUMAN
- Entrez Gene
- 1374
- UniGene
- 503043
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenDR gene expression
- A homolog of this gene for Mus musculus is present as Cpt1a
CSHL1
Gene details
- HGNC symbol
- CSHL1
- Aliases
- CSL; CS-5; GHB4; CSHP1; hCS-L
- Common name
- chorionic somatomammotropin hormone like 1
- Description
- The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. This particular family member is expressed in placental villi, although it was originally thought to be a pseudogene. In fact, alternative splicing suggests that the majority of the transcripts would be unable to express a secreted protein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
- OMIM
- 603515
- Ensembl
- ENSG00000204414
- UniProt/Swiss-Prot
- A0A0B4J1R0_HUMAN
- Entrez Gene
- 1444
- UniGene
- 654390
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge model organism genes
- A homolog of this gene for Mus musculus is present as Gh
CXCL8
Gene details
- HGNC symbol
- CXCL8
- Aliases
- IL8; NAF; GCP1; LECT; LUCT; NAP1; GCP-1; LYNAP; MDNCF; MONAP; NAP-1
- Common name
- C-X-C motif chemokine ligand 8
- Description
- The protein encoded by this gene is a member of the CXC chemokine family. This chemokine is one of the major mediators of the inflammatory response. This chemokine is secreted by several cell types. It functions as a chemoattractant, and is also a potent angiogenic factor. This gene is believed to play a role in the pathogenesis of bronchiolitis, a common respiratory tract disease caused by viral infection. This gene and other ten members of the CXC chemokine gene family form a chemokine gene cluster in a region mapped to chromosome 4q. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 146930
- Ensembl
- ENSG00000169429
- UniProt/Swiss-Prot
- A0A024RDA5_HUMAN
- Entrez Gene
- 3576
- UniGene
- 624
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
CYP2A7P1
Gene details
- HGNC symbol
- CYP2A7P1
- Aliases
- CYP2A7P2; CYP2A7PT; CYP2A18PC; CYP2A18PN
- Common name
- cytochrome P450 family 2 subfamily A member 7 pseudogene 1
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 1550
- UniGene
- 733030
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
CYP2B6
Gene details
- HGNC symbol
- CYP2B6
- Aliases
- CPB6; EFVM; IIB1; P450; CYP2B; CYP2B7; CYP2B7P; CYPIIB6
- Common name
- cytochrome P450 family 2 subfamily B member 6
- Description
- This gene, CYP2B6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 3
- OMIM
- 123930
- Ensembl
- ENSG00000197408
- UniProt/Swiss-Prot
- CP2B6_HUMAN
- Entrez Gene
- 1555
- UniGene
- 1360
- HapMap
- View on HapMap
Homologs in model organisms
CYP2D6
Gene details
- HGNC symbol
- CYP2D6
- Aliases
- CPD6; CYP2D; CYP2DL1; CYPIID6; P450C2D; P450DB1; CYP2D7AP; CYP2D7BP; CYP2D7P2; CYP2D8P2; P450-DB1
- Common name
- cytochrome P450 family 2 subfamily D member 6
- Description
- This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
- Other longevity studies of this gene
- 7
- OMIM
- 124030
- Ensembl
- ENSG00000100197
- UniProt/Swiss-Prot
- C1ID52_HUMAN
- Entrez Gene
- 1565
- UniGene
- 648256
- HapMap
- View on HapMap
Homologs in model organisms
DRD2
Gene details
- HGNC symbol
- DRD2
- Aliases
- D2R; D2DR
- Common name
- dopamine receptor D2
- Description
- This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 126450
- Ensembl
- ENSG00000149295
- UniProt/Swiss-Prot
- A0A024R3C5_HUMAN
- Entrez Gene
- 1813
- UniGene
- 73893
- HapMap
- View on HapMap
Homologs in model organisms
DRD4
Gene details
- HGNC symbol
- DRD4
- Aliases
- D4DR
- Common name
- dopamine receptor D4
- Description
- This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 3
- OMIM
- 126452
- Ensembl
- ENSG00000069696
- UniProt/Swiss-Prot
- A0A0G2JM26_HUMAN
- Entrez Gene
- 1815
- UniGene
- 99922
- HapMap
- View on HapMap
Homologs in model organisms
EGF
Gene details
- HGNC symbol
- EGF
- Aliases
- URG; HOMG4
- Common name
- epidermal growth factor
- Description
- This gene encodes a member of the epidermal growth factor superfamily. The encoded preproprotein is proteolytically processed to generate the 53-amino acid epidermal growth factor peptide. This protein acts a potent mitogenic factor that plays an important role in the growth, proliferation and differentiation of numerous cell types. This protein acts by binding with high affinity to the cell surface receptor, epidermal growth factor receptor. Defects in this gene are the cause of hypomagnesemia type 4. Dysregulation of this gene has been associated with the growth and progression of certain cancers. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
- Other longevity studies of this gene
- 7
- OMIM
- 131530
- Ensembl
- ENSG00000138798
- UniProt/Swiss-Prot
- EGF_HUMAN
- Entrez Gene
- 1950
- UniGene
- 419815
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge human genes
- This gene is present as EGF
ERBB2
Gene details
- HGNC symbol
- ERBB2
- Aliases
- NEU; NGL; HER2; TKR1; CD340; HER-2; MLN; 19; HER-2/neu
- Common name
- erb-b2 receptor tyrosine kinase 2
- Description
- This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 164870
- Ensembl
- ENSG00000141736
- UniProt/Swiss-Prot
- ERBB2_HUMAN
- Entrez Gene
- 2064
- UniGene
- 446352
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
ERCC1
Gene details
- HGNC symbol
- ERCC1
- Aliases
- UV20; COFS4; RAD10
- Common name
- ERCC excision repair 1, endonuclease non-catalytic subunit
- Description
- The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]
- Other longevity studies of this gene
- 9
- OMIM
- 126380
- Ensembl
- ENSG00000012061
- UniProt/Swiss-Prot
- A0A024R0Q6_HUMAN
- Entrez Gene
- 2067
- UniGene
- 435981
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- ercc-1
- Danio rerio
- ercc1
- Drosophila melanogaster
- Ercc1
- Mus musculus
- Ercc1
- Rattus norvegicus
- Ercc1
- Schizosaccharomyces pombe
- swi10
In other databases
ERCC2
Gene details
- HGNC symbol
- ERCC2
- Aliases
- EM9; TTD; XPD; TTD1; COFS2; TFIIH
- Common name
- ERCC excision repair 2, TFIIH core complex helicase subunit
- Description
- The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
- Other longevity studies of this gene
- 17
- OMIM
- 126340
- Ensembl
- ENSG00000104884
- UniProt/Swiss-Prot
- ERCC2_HUMAN
- Entrez Gene
- 2068
- UniGene
- 487294
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- CELE_Y50D7A.2
- Danio rerio
- ercc2
- Drosophila melanogaster
- Xpd
- Mus musculus
- Ercc2
- Rattus norvegicus
- Ercc2
- Saccharomyces cerevisiae
- RAD3
- Schizosaccharomyces pombe
- rad15
In other databases
ERCC5
Gene details
- HGNC symbol
- ERCC5
- Aliases
- XPG; UVDR; XPGC; COFS3; ERCM2; ERCC5-201
- Common name
- ERCC excision repair 5, endonuclease
- Description
- This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]
- Other longevity studies of this gene
- 17
- OMIM
- 133530
- Ensembl
- ENSG00000134899
- UniProt/Swiss-Prot
- ERCC5_HUMAN
- Entrez Gene
- 2073
- UniGene
- 258429
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- xpg-1
- Danio rerio
- ercc5
- Drosophila melanogaster
- mus201
- Mus musculus
- Ercc5
- Rattus norvegicus
- Ercc5
- Saccharomyces cerevisiae
- RAD2
- Schizosaccharomyces pombe
- rad13
In other databases
- GenAge human genes
- This gene is present as ERCC5
FOXO1
Gene details
- HGNC symbol
- FOXO1
- Aliases
- FKH1; FKHR; FOXO1A
- Common name
- forkhead box O1
- Description
- This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in myogenic growth and differentiation. Translocation of this gene with PAX3 has been associated with alveolar rhabdomyosarcoma. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 30
- OMIM
- 136533
- Ensembl
- ENSG00000150907
- UniProt/Swiss-Prot
- FOXO1_HUMAN
- Entrez Gene
- 2308
- UniGene
- 370666
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
FOXO3
Gene details
- HGNC symbol
- FOXO3
- Aliases
- FOXO2; AF6q21; FKHRL1; FOXO3A; FKHRL1P2
- Common name
- forkhead box O3
- Description
- This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 101
- OMIM
- 602681
- Ensembl
- ENSG00000118689
- UniProt/Swiss-Prot
- FOXO3_HUMAN
- Entrez Gene
- 2309
- UniGene
- 220950
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
FOXO4
Gene details
- HGNC symbol
- FOXO4
- Aliases
- AFX; AFX1; MLLT7
- Common name
- forkhead box O4
- Description
- This gene encodes a member of the O class of winged helix/forkhead transcription factor family. Proteins encoded by this class are regulated by factors involved in growth and differentiation indicating they play a role in these processes. A translocation involving this gene on chromosome X and the homolog of the Drosophila trithorax gene, encoding a DNA binding protein, located on chromosome 11 is associated with leukemia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
- Other longevity studies of this gene
- 5
- OMIM
- 300033
- Ensembl
- ENSG00000184481
- UniProt/Swiss-Prot
- FOXO4_HUMAN
- Entrez Gene
- 4303
- UniGene
- 584654
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- LOC563719
- Drosophila melanogaster
- foxo
- Mus musculus
- Foxo4
- Rattus norvegicus
- Foxo4
- Saccharomyces cerevisiae
- FHL1
- Schizosaccharomyces pombe
- sep1
In other databases
GADD45A
Gene details
- HGNC symbol
- GADD45A
- Aliases
- DDIT1; GADD45
- Common name
- growth arrest and DNA damage inducible alpha
- Description
- This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Dec 2010]
- OMIM
- 126335
- Ensembl
- ENSG00000116717
- UniProt/Swiss-Prot
- A5JUZ3_HUMAN
- Entrez Gene
- 1647
- UniGene
- 80409
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge gene expression
- This gene is present as GADD45A
GDPD3
Gene details
- HGNC symbol
- GDPD3
- Aliases
- GDE7
- Common name
- glycerophosphodiester phosphodiesterase domain containing 3
- Description
- OMIM
- 616318
- Ensembl
- ENSG00000102886
- UniProt/Swiss-Prot
- GDPD3_HUMAN
- Entrez Gene
- 79153
- UniGene
- 289015
- HapMap
- View on HapMap
Homologs in model organisms
- Mus musculus
- Gdpd3
- Rattus norvegicus
- Gdpd3
- Schizosaccharomyces pombe
- SPAC4D7.02c
GH1
Gene details
- HGNC symbol
- GH1
- Aliases
- GH; GHN; GH-N; GHB5; hGH-N; IGHD1B
- Common name
- growth hormone 1
- Description
- The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 1
- OMIM
- 139250
- Ensembl
- ENSG00000259384
- UniProt/Swiss-Prot
- B1A4G6_HUMAN
- Entrez Gene
- 2688
- UniGene
- 655229
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
In other databases
- GenAge human genes
- This gene is present as GH1
GHR
Gene details
- HGNC symbol
- GHR
- Aliases
- GHBP; GHIP
- Common name
- growth hormone receptor
- Description
- This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]
- Other longevity studies of this gene
- 8
- OMIM
- 600946
- Ensembl
- ENSG00000112964
- UniProt/Swiss-Prot
- A0A087X0H5_HUMAN
- Entrez Gene
- 2690
- UniGene
- 125180
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
GRB2
Gene details
- HGNC symbol
- GRB2
- Aliases
- ASH; Grb3-3; MST084; NCKAP2; MSTP084; EGFRBP-GRB2
- Common name
- growth factor receptor bound protein 2
- Description
- The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 108355
- Ensembl
- ENSG00000177885
- UniProt/Swiss-Prot
- B0LPF3_HUMAN
- Entrez Gene
- 2885
- UniGene
- 444356
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge human genes
- This gene is present as GRB2
GSTA3
Gene details
- HGNC symbol
- GSTA3
- Aliases
- GTA3; GSTA3-3
- Common name
- glutathione S-transferase alpha 3
- Description
- Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class genes that are located in a cluster mapped to chromosome 6. Genes of the alpha class are highly related and encode enzymes with glutathione peroxidase activity. However, during evolution, this alpha class gene diverged accumulating mutations in the active site that resulted in differences in substrate specificity and catalytic activity. The enzyme encoded by this gene catalyzes the double bond isomerization of precursors for progesterone and testosterone during the biosynthesis of steroid hormones. An additional transcript variant has been identified, but its full length sequence has not been determined. [provided by RefSeq, Jul 2008]
- OMIM
- 605449
- Ensembl
- ENSG00000174156
- UniProt/Swiss-Prot
- GSTA3_HUMAN
- Entrez Gene
- 2940
- UniGene
- 102484
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
GSTA4
Gene details
- HGNC symbol
- GSTA4
- Aliases
- GTA4; GSTA4-4
- Common name
- glutathione S-transferase alpha 4
- Description
- Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, which are located in a cluster on chromosome 6, are highly related and encode enzymes with glutathione peroxidase activity that function in the detoxification of lipid peroxidation products. Reactive electrophiles produced by oxidative metabolism have been linked to a number of degenerative diseases including Parkinson's disease, Alzheimer's disease, cataract formation, and atherosclerosis. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 4
- OMIM
- 605450
- Ensembl
- ENSG00000170899
- UniProt/Swiss-Prot
- A0A024RD58_HUMAN
- Entrez Gene
- 2941
- UniGene
- 485557
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
In other databases
- GenAge human genes
- This gene is present as GSTA4
GSTZ1
Gene details
- HGNC symbol
- GSTZ1
- Aliases
- MAI; MAAI; GSTZ1-1
- Common name
- glutathione S-transferase zeta 1
- Description
- This gene is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation with glutathione. This enzyme catalyzes the conversion of maleylacetoacetate to fumarylacetoacatate, which is one of the steps in the phenylalanine/tyrosine degradation pathway. Deficiency of a similar gene in mouse causes oxidative stress. Several transcript variants of this gene encode multiple protein isoforms. [provided by RefSeq, Jul 2015]
- Other longevity studies of this gene
- 3
- OMIM
- 603758
- Ensembl
- ENSG00000100577
- UniProt/Swiss-Prot
- A0A0A0MR33_HUMAN
- Entrez Gene
- 2954
- UniGene
- 655292
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- CELE_Y53G8B.1
- Danio rerio
- gstz1
- Drosophila melanogaster
- CG9363
- Mus musculus
- Gstz1
- Rattus norvegicus
- Gstz1
HNMT
Gene details
- HGNC symbol
- HNMT
- Aliases
- HMT; MRT51; HNMT-S1; HNMT-S2
- Common name
- histamine N-methyltransferase
- Description
- In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This gene encodes the first enzyme which is found in the cytosol and uses S-adenosyl-L-methionine as the methyl donor. In the mammalian brain, the neurotransmitter activity of histamine is controlled by N(tau)-methylation as diamine oxidase is not found in the central nervous system. A common genetic polymorphism affects the activity levels of this gene product in red blood cells. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 605238
- Ensembl
- ENSG00000150540
- UniProt/Swiss-Prot
- B4DWC1_HUMAN
- Entrez Gene
- 3176
- UniGene
- 42151
- HapMap
- View on HapMap
Homologs in model organisms
HRAS
Gene details
- HGNC symbol
- HRAS
- Aliases
- CTLO; HAMSV; HRAS1; RASH1; p21ras; C-H-RAS; H-RASIDX; C-BAS/HAS; C-HA-RAS1
- Common name
- HRas proto-oncogene, GTPase
- Description
- This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, mental retardation, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 3
- OMIM
- 190020
- Ensembl
- ENSG00000174775
- UniProt/Swiss-Prot
- RASH_HUMAN
- Entrez Gene
- 3265
- UniGene
- 37003
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
HTR2A
Gene details
- HGNC symbol
- HTR2A
- Aliases
- HTR2; 5-HT2A
- Common name
- 5-hydroxytryptamine receptor 2A
- Description
- This gene encodes one of the receptors for serotonin, a neurotransmitter with many roles. Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepressant citalopram in patients with major depressive disorder (MDD). MDD patients who also have a mutation in intron 2 of this gene show a significantly reduced response to citalopram as this antidepressant downregulates expression of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
- Other longevity studies of this gene
- 1
- OMIM
- 182135
- Ensembl
- ENSG00000102468
- UniProt/Swiss-Prot
- 5HT2A_HUMAN
- Entrez Gene
- 3356
- UniGene
- 72630
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- si:dkey-276l13.4
- Mus musculus
- Htr2a
- Rattus norvegicus
- Htr2a
IFNG
Gene details
- HGNC symbol
- IFNG
- Aliases
- IFG; IFI
- Common name
- interferon gamma
- Description
- This gene encodes a soluble cytokine that is a member of the type II interferon class. The encoded protein is secreted by cells of both the innate and adaptive immune systems. The active protein is a homodimer that binds to the interferon gamma receptor which triggers a cellular response to viral and microbial infections. Mutations in this gene are associated with an increased susceptibility to viral, bacterial and parasitic infections and to several autoimmune diseases. [provided by RefSeq, Dec 2015]
- Other longevity studies of this gene
- 5
- OMIM
- 147570
- Ensembl
- ENSG00000111537
- UniProt/Swiss-Prot
- IFNG_HUMAN
- Entrez Gene
- 3458
- UniGene
- 856
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge
- This gene is present as IFNG
IGF1
Gene details
- HGNC symbol
- IGF1
- Aliases
- MGF; IGFI; IGF-I
- Common name
- insulin like growth factor 1
- Description
- The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]
- Other longevity studies of this gene
- 9
- OMIM
- 147440
- Ensembl
- ENSG00000017427
- UniProt/Swiss-Prot
- IGF1_HUMAN
- Entrez Gene
- 3479
- UniGene
- 160562
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
IGF1R
Gene details
- HGNC symbol
- IGF1R
- Aliases
- IGFR; CD221; IGFIR; JTK13
- Common name
- insulin like growth factor 1 receptor
- Description
- This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
- Other longevity studies of this gene
- 10
- OMIM
- 147370
- Ensembl
- ENSG00000140443
- UniProt/Swiss-Prot
- C9J5X1_HUMAN
- Entrez Gene
- 3480
- UniGene
- 643120
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
IGF2
Gene details
- HGNC symbol
- IGF2
- Aliases
- GRDF; IGF-II; PP9974; C11orf43
- Common name
- insulin like growth factor 2
- Description
- This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
- Other longevity studies of this gene
- 6
- OMIM
- 147470
- Ensembl
- ENSG00000167244
- UniProt/Swiss-Prot
- E3UN46_HUMAN
- Entrez Gene
- 3481
- UniGene
- 272259
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge human genes
- This gene is present as IGF2
IGFALS
Gene details
- HGNC symbol
- IGFALS
- Aliases
- ALS; ACLSD
- Common name
- insulin like growth factor binding protein acid labile subunit
- Description
- The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
- Other longevity studies of this gene
- 2
- OMIM
- 601489
- Ensembl
- ENSG00000099769
- UniProt/Swiss-Prot
- ALS_HUMAN
- Entrez Gene
- 3483
- UniGene
- 839
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- si:ch211-66h3.1
- Drosophila melanogaster
- CG32055
- Mus musculus
- Igfals
- Rattus norvegicus
- Igfals
IGFBP1
Gene details
- HGNC symbol
- IGFBP1
- Aliases
- AFBP; IBP1; PP12; IGF-BP25; hIGFBP-1
- Common name
- insulin like growth factor binding protein 1
- Description
- This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008]
- OMIM
- 146730
- Ensembl
- ENSG00000146678
- UniProt/Swiss-Prot
- IBP1_HUMAN
- Entrez Gene
- 3484
- UniGene
- 642938
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge
- This gene is present as IGFBP1
IGFBP3
Gene details
- HGNC symbol
- IGFBP3
- Aliases
- IBP3; BP-53
- Common name
- insulin like growth factor binding protein 3
- Description
- This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 146732
- Ensembl
- ENSG00000146674
- UniProt/Swiss-Prot
- B3KPF0_HUMAN
- Entrez Gene
- 3486
- UniGene
- 450230
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
IL10
Gene details
- HGNC symbol
- IL10
- Aliases
- CSIF; TGIF; GVHDS; IL-10; IL10A
- Common name
- interleukin 10
- Description
- The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. This cytokine has pleiotropic effects in immunoregulation and inflammation. It down-regulates the expression of Th1 cytokines, MHC class II Ags, and costimulatory molecules on macrophages. It also enhances B cell survival, proliferation, and antibody production. This cytokine can block NF-kappa B activity, and is involved in the regulation of the JAK-STAT signaling pathway. Knockout studies in mice suggested the function of this cytokine as an essential immunoregulator in the intestinal tract. Mutations in this gene are associated with an increased susceptibility to HIV-1 infection and rheumatoid arthritis.[provided by RefSeq, May 2011]
- Other longevity studies of this gene
- 15
- OMIM
- 124092
- Ensembl
- ENSG00000136634
- UniProt/Swiss-Prot
- IL10_HUMAN
- Entrez Gene
- 3586
- UniGene
- 193717
- HapMap
- View on HapMap
Homologs in model organisms
IL12B
Gene details
- HGNC symbol
- IL12B
- Aliases
- CLMF; NKSF; CLMF2; IMD28; IMD29; NKSF2; IL-12B
- Common name
- interleukin 12B
- Description
- This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq, Jul 2008]
- OMIM
- 161561
- Ensembl
- ENSG00000113302
- UniProt/Swiss-Prot
- IL12B_HUMAN
- Entrez Gene
- 3593
- UniGene
- 674
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- si:ch211-213n8.3
- Mus musculus
- Il12b
- Rattus norvegicus
- Il12b
IL1A
Gene details
- HGNC symbol
- IL1A
- Aliases
- IL1; IL-1A; IL1F1; IL1-ALPHA
- Common name
- interleukin 1 alpha
- Description
- The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoiesis. This cytokine is produced by monocytes and macrophages as a proprotein, which is proteolytically processed and released in response to cell injury, and thus induces apoptosis. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. It has been suggested that the polymorphism of these genes is associated with rheumatoid arthritis and Alzheimer's disease. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 4
- OMIM
- 147760
- Ensembl
- ENSG00000115008
- UniProt/Swiss-Prot
- IL1A_HUMAN
- Entrez Gene
- 3552
- UniGene
- 1722
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge
- This gene is present as IL1A
IL1B
Gene details
- HGNC symbol
- IL1B
- Aliases
- IL-1; IL1F2; IL1-BETA
- Common name
- interleukin 1 beta
- Description
- The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1 (CASP1/ICE). This cytokine is an important mediator of the inflammatory response, and is involved in a variety of cellular activities, including cell proliferation, differentiation, and apoptosis. The induction of cyclooxygenase-2 (PTGS2/COX2) by this cytokine in the central nervous system (CNS) is found to contribute to inflammatory pain hypersensitivity. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 6
- OMIM
- 147720
- Ensembl
- ENSG00000125538
- UniProt/Swiss-Prot
- IL1B_HUMAN
- Entrez Gene
- 3553
- UniGene
- 126256
- HapMap
- View on HapMap
Homologs in model organisms
IL2
Gene details
- HGNC symbol
- IL2
- Aliases
- IL-2; TCGF; lymphokine
- Common name
- interleukin 2
- Description
- The protein encoded by this gene is a secreted cytokine that is important for the proliferation of T and B lymphocytes. The receptor of this cytokine is a heterotrimeric protein complex whose gamma chain is also shared by interleukin 4 (IL4) and interleukin 7 (IL7). The expression of this gene in mature thymocytes is monoallelic, which represents an unusual regulatory mode for controlling the precise expression of a single gene. The targeted disruption of a similar gene in mice leads to ulcerative colitis-like disease, which suggests an essential role of this gene in the immune response to antigenic stimuli. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 147680
- Ensembl
- ENSG00000109471
- UniProt/Swiss-Prot
- IL2_HUMAN
- Entrez Gene
- 3558
- UniGene
- 89679
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge human genes
- This gene is present as IL2
IL6
Gene details
- HGNC symbol
- IL6
- Aliases
- CDF; HGF; HSF; BSF2; IL-6; BSF-2; IFNB2; IFN-beta-2
- Common name
- interleukin 6
- Description
- This gene encodes a cytokine that functions in inflammation and the maturation of B cells. In addition, the encoded protein has been shown to be an endogenous pyrogen capable of inducing fever in people with autoimmune diseases or infections. The protein is primarily produced at sites of acute and chronic inflammation, where it is secreted into the serum and induces a transcriptional inflammatory response through interleukin 6 receptor, alpha. The functioning of this gene is implicated in a wide variety of inflammation-associated disease states, including suspectibility to diabetes mellitus and systemic juvenile rheumatoid arthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
- Other longevity studies of this gene
- 19
- OMIM
- 147620
- Ensembl
- ENSG00000136244
- UniProt/Swiss-Prot
- B4DNQ5_HUMAN
- Entrez Gene
- 3569
- UniGene
- 654458
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
INS
Gene details
- HGNC symbol
- INS
- Aliases
- IDDM; ILPR; IRDN; IDDM1; IDDM2; MODY10
- Common name
- insulin
- Description
- After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
- Other longevity studies of this gene
- 5
- OMIM
- 176730
- Ensembl
- ENSG00000254647
- UniProt/Swiss-Prot
- I3WAC9_HUMAN
- Entrez Gene
- 3630
- UniGene
- 272259
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge human genes
- This gene is present as INS
INS-IGF2
Gene details
- HGNC symbol
- INS-IGF2
- Aliases
- INSIGF
- Common name
- INS-IGF2 readthrough
- Description
- This locus includes two alternatively spliced read-through transcript variants which align to the INS gene in the 5' region and to the IGF2 gene in the 3' region. One transcript is predicted to encode a protein which shares the N-terminus with the INS protein but has a distinct and longer C-terminus, whereas the other transcript is a candidate for nonsense-mediated decay (NMD). The transcripts are imprinted and are paternally expressed in the limb and eye. [provided by RefSeq, Jul 2008]
- OMIM
- Ensembl
- ENSG00000129965
- UniProt/Swiss-Prot
- INSR2_HUMAN
- Entrez Gene
- 723961
- UniGene
- 272259
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
INSR
Gene details
- HGNC symbol
- INSR
- Aliases
- HHF5; CD220
- Common name
- insulin receptor
- Description
- This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
- Other longevity studies of this gene
- 4
- OMIM
- 147670
- Ensembl
- ENSG00000171105
- UniProt/Swiss-Prot
- INSR_HUMAN
- Entrez Gene
- 3643
- UniGene
- 465744
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
IRS1
Gene details
- HGNC symbol
- IRS1
- Aliases
- HIRS-1
- Common name
- insulin receptor substrate 1
- Description
- This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009]
- Other longevity studies of this gene
- 5
- OMIM
- 147545
- Ensembl
- ENSG00000169047
- UniProt/Swiss-Prot
- A0A024R499_HUMAN
- Entrez Gene
- 3667
- UniGene
- 471508
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
JAK2
Gene details
- HGNC symbol
- JAK2
- Aliases
- JTK10; THCYT3
- Common name
- Janus kinase 2
- Description
- This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 3
- OMIM
- 147796
- Ensembl
- ENSG00000096968
- UniProt/Swiss-Prot
- A8K910_HUMAN
- Entrez Gene
- 3717
- UniGene
- 656213
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
LEP
Gene details
- HGNC symbol
- LEP
- Aliases
- OB; OBS; LEPD
- Common name
- leptin
- Description
- This gene encodes a protein that is secreted by white adipocytes, and which plays a major role in the regulation of body weight. This protein, which acts through the leptin receptor, functions as part of a signaling pathway that can inhibit food intake and/or regulate energy expenditure to maintain constancy of the adipose mass. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis and wound healing. Mutations in this gene and/or its regulatory regions cause severe obesity, and morbid obesity with hypogonadism. This gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 3
- OMIM
- 164160
- Ensembl
- ENSG00000174697
- UniProt/Swiss-Prot
- A4D0Y8_HUMAN
- Entrez Gene
- 3952
- UniGene
- 194236
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge human genes
- This gene is present as LEP
LEPR
Gene details
- HGNC symbol
- LEPR
- Aliases
- OBR; OB-R; CD295; LEP-R; LEPRD
- Common name
- leptin receptor
- Description
- The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]
- Other longevity studies of this gene
- 10
- OMIM
- 601007
- Ensembl
- ENSG00000116678
- UniProt/Swiss-Prot
- LEPR_HUMAN
- Entrez Gene
- 3953
- UniGene
- 23581
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
In other databases
- GenAge human genes
- This gene is present as LEPR
LOC101059906
Gene details
- HGNC symbol
- LOC101059906
- Aliases
- Common name
- collagen alpha-2(IV) chain-like
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 101059906
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC105375091
Gene details
- HGNC symbol
- LOC105375091
- Aliases
- Common name
- uncharacterized LOC105375091
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 105375091
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC107987209
Gene details
- HGNC symbol
- LOC107987209
- Aliases
- Common name
- uncharacterized LOC107987209
- Description
- Other longevity studies of this gene
- 1
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 107987209
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LRRC56
Gene details
- HGNC symbol
- LRRC56
- Aliases
- Common name
- leucine rich repeat containing 56
- Description
- OMIM
- Ensembl
- ENSG00000161328
- UniProt/Swiss-Prot
- LRC56_HUMAN
- Entrez Gene
- 115399
- UniGene
- 567655
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- uncharacterized_F1QS
- Mus musculus
- Lrrc56
- Rattus norvegicus
- Lrrc56
MAP2K1
Gene details
- HGNC symbol
- MAP2K1
- Aliases
- CFC3; MEK1; MKK1; MAPKK1; PRKMK1
- Common name
- mitogen-activated protein kinase kinase 1
- Description
- The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 176872
- Ensembl
- ENSG00000169032
- UniProt/Swiss-Prot
- A4QPA9_HUMAN
- Entrez Gene
- 5604
- UniGene
- 145442
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- mek-2
- Danio rerio
- map2k1
- Mus musculus
- Map2k1
- Rattus norvegicus
- Map2k1
- Schizosaccharomyces pombe
- byr1
In other databases
MAP3K7
Gene details
- HGNC symbol
- MAP3K7
- Aliases
- CSCF; FMD2; TAK1; MEKK7; TGF1a
- Common name
- mitogen-activated protein kinase kinase kinase 7
- Description
- The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase mediates the signaling transduction induced by TGF beta and morphogenetic protein (BMP), and controls a variety of cell functions including transcription regulation and apoptosis. In response to IL-1, this protein forms a kinase complex including TRAF6, MAP3K7P1/TAB1 and MAP3K7P2/TAB2; this complex is required for the activation of nuclear factor kappa B. This kinase can also activate MAPK8/JNK, MAP2K4/MKK4, and thus plays a role in the cell response to environmental stresses. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 5
- OMIM
- 602614
- Ensembl
- ENSG00000135341
- UniProt/Swiss-Prot
- M3K7_HUMAN
- Entrez Gene
- 6885
- UniGene
- 594838
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- CELE_Y105C5A.24
- Danio rerio
- map3k7
- Drosophila melanogaster
- Tak1
- Mus musculus
- Map3k7
- Rattus norvegicus
- Map3k7
In other databases
- CellAge
- This gene is present as MAP3K7
MAPK3
Gene details
- HGNC symbol
- MAPK3
- Aliases
- ERK1; ERT2; ERK-1; PRKM3; P44ERK1; P44MAPK; HS44KDAP; HUMKER1A; p44-ERK1; p44-MAPK
- Common name
- mitogen-activated protein kinase 3
- Description
- The protein encoded by this gene is a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act in a signaling cascade that regulates various cellular processes such as proliferation, differentiation, and cell cycle progression in response to a variety of extracellular signals. This kinase is activated by upstream kinases, resulting in its translocation to the nucleus where it phosphorylates nuclear targets. Alternatively spliced transcript variants encoding different protein isoforms have been described. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 1
- OMIM
- 601795
- Ensembl
- ENSG00000102882
- UniProt/Swiss-Prot
- L7RXH5_HUMAN
- Entrez Gene
- 5595
- UniGene
- 861
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- mpk-1
- Drosophila melanogaster
- rl
- Mus musculus
- Mapk3
- Rattus norvegicus
- Mapk3
- Saccharomyces cerevisiae
- KSS1
- Schizosaccharomyces pombe
- spk1
In other databases
MBD1
Gene details
- HGNC symbol
- MBD1
- Aliases
- RFT; PCM1; CXXC3
- Common name
- methyl-CpG binding domain protein 1
- Description
- The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains multiple domains: MBD at the N-terminus that functions both in binding to methylated DNA and in protein interactions; several CXXC-type zinc finger domains that mediate binding to non-methylated CpG dinucleotides; transcriptional repression domain (TRD) at the C-terminus that is involved in transcription repression and in protein interactions. Numerous alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Feb 2011]
- OMIM
- 156535
- Ensembl
- ENSG00000141644
- UniProt/Swiss-Prot
- A8K654_HUMAN
- Entrez Gene
- 4152
- UniGene
- 405610
- HapMap
- View on HapMap
Homologs in model organisms
MBD2
Gene details
- HGNC symbol
- MBD2
- Aliases
- DMTase; NY-CO-41
- Common name
- methyl-CpG binding domain protein 2
- Description
- DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. The protein encoded by this gene may function as a mediator of the biological consequences of the methylation signal. It is also reported that the this protein functions as a demethylase to activate transcription, as DNA methylation causes gene silencing. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
- Other longevity studies of this gene
- 1
- OMIM
- 603547
- Ensembl
- ENSG00000134046
- UniProt/Swiss-Prot
- A0A024R2B8_HUMAN
- Entrez Gene
- 8932
- UniGene
- 25674
- HapMap
- View on HapMap
Homologs in model organisms
MDM2
Gene details
- HGNC symbol
- MDM2
- Aliases
- HDMX; hdm2; ACTFS
- Common name
- MDM2 proto-oncogene
- Description
- This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells. [provided by RefSeq, Jun 2013]
- OMIM
- 164785
- Ensembl
- ENSG00000135679
- UniProt/Swiss-Prot
- A0A0A8KB75_HUMAN
- Entrez Gene
- 4193
- UniGene
- 484551
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
MKRN2
Gene details
- HGNC symbol
- MKRN2
- Aliases
- RNF62; HSPC070
- Common name
- makorin ring finger protein 2
- Description
- This gene encodes a probable E3 ubiquitin ligase containing several zinc finger domains, that is a member of the makorin RING zinc-finger protein family. This gene overlaps the v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) gene in an antisense orientation and may have a co-regulatory function with RAF1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
- OMIM
- 608426
- Ensembl
- ENSG00000075975
- UniProt/Swiss-Prot
- MKRN2_HUMAN
- Entrez Gene
- 23609
- UniGene
- 591666
- HapMap
- View on HapMap
Homologs in model organisms
MTOR
Gene details
- HGNC symbol
- MTOR
- Aliases
- SKS; FRAP; FRAP1; FRAP2; RAFT1; RAPT1
- Common name
- mechanistic target of rapamycin
- Description
- The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Sep 2008]
- Other longevity studies of this gene
- 9
- OMIM
- 601231
- Ensembl
- ENSG00000198793
- UniProt/Swiss-Prot
- MTOR_HUMAN
- Entrez Gene
- 2475
- UniGene
- 338207
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- let-363
- Danio rerio
- mtor
- Drosophila melanogaster
- Tor
- Mus musculus
- Mtor
- Rattus norvegicus
- Mtor
- Saccharomyces cerevisiae
- TOR2
- Schizosaccharomyces pombe
- tor2
In other databases
NAT1
Gene details
- HGNC symbol
- NAT1
- Aliases
- AAC1; MNAT; NATI; NAT-1
- Common name
- N-acetyltransferase 1
- Description
- This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps metabolize drugs and other xenobiotics, and functions in folate catabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
- Other longevity studies of this gene
- 1
- OMIM
- 108345
- Ensembl
- ENSG00000171428
- UniProt/Swiss-Prot
- ARY1_HUMAN
- Entrez Gene
- 9
- UniGene
- 591847
- HapMap
- View on HapMap
Homologs in model organisms
NAT2
Gene details
- HGNC symbol
- NAT2
- Aliases
- AAC2; PNAT; NAT-2
- Common name
- N-acetyltransferase 2
- Description
- This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polymorphisms in this gene are also associated with higher incidences of cancer and drug toxicity. A second arylamine N-acetyltransferase gene (NAT1) is located near this gene (NAT2). [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 6
- OMIM
- 612182
- Ensembl
- ENSG00000156006
- UniProt/Swiss-Prot
- A4Z6T7_HUMAN
- Entrez Gene
- 10
- UniGene
- 2
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- zgc:101040
NBN
Gene details
- HGNC symbol
- NBN
- Aliases
- ATV; NBS; P95; NBS1; AT-V1; AT-V2
- Common name
- nibrin
- Description
- Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 13
- OMIM
- 602667
- Ensembl
- ENSG00000104320
- UniProt/Swiss-Prot
- A0A0C4DG07_HUMAN
- Entrez Gene
- 4683
- UniGene
- 492208
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
NFAT5
Gene details
- HGNC symbol
- NFAT5
- Aliases
- NFATZ; OREBP; NF-AT5; NFATL1; TONEBP
- Common name
- nuclear factor of activated T-cells 5
- Description
- The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
- OMIM
- 604708
- Ensembl
- ENSG00000102908
- UniProt/Swiss-Prot
- A0A024R734_HUMAN
- Entrez Gene
- 10725
- UniGene
- 371987
- HapMap
- View on HapMap
Homologs in model organisms
NNMT
Gene details
- HGNC symbol
- NNMT
- Aliases
- Common name
- nicotinamide N-methyltransferase
- Description
- N-methylation is one method by which drug and other xenobiotic compounds are metabolized by the liver. This gene encodes the protein responsible for this enzymatic activity which uses S-adenosyl methionine as the methyl donor. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 600008
- Ensembl
- ENSG00000166741
- UniProt/Swiss-Prot
- NNMT_HUMAN
- Entrez Gene
- 4837
- UniGene
- 503911
- HapMap
- View on HapMap
Homologs in model organisms
NQO1
Gene details
- HGNC symbol
- NQO1
- Aliases
- DTD; QR1; DHQU; DIA4; NMOR1; NMORI
- Common name
- NAD(P)H quinone dehydrogenase 1
- Description
- This gene is a member of the NAD(P)H dehydrogenase (quinone) family and encodes a cytoplasmic 2-electron reductase. This FAD-binding protein forms homodimers and reduces quinones to hydroquinones. This protein's enzymatic activity prevents the one electron reduction of quinones that results in the production of radical species. Mutations in this gene have been associated with tardive dyskinesia (TD), an increased risk of hematotoxicity after exposure to benzene, and susceptibility to various forms of cancer. Altered expression of this protein has been seen in many tumors and is also associated with Alzheimer's disease (AD). Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 125860
- Ensembl
- ENSG00000181019
- UniProt/Swiss-Prot
- B4DLR8_HUMAN
- Entrez Gene
- 1728
- UniGene
- 406515
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge
- This gene is present as NQO1
NTRK1
Gene details
- HGNC symbol
- NTRK1
- Aliases
- MTC; TRK; TRK1; TRKA; Trk-A; p140-TrkA
- Common name
- neurotrophic receptor tyrosine kinase 1
- Description
- This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, mental retardation and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 1
- OMIM
- 191315
- Ensembl
- ENSG00000198400
- UniProt/Swiss-Prot
- NTRK1_HUMAN
- Entrez Gene
- 4914
- UniGene
- 406293
- HapMap
- View on HapMap
Homologs in model organisms
OGG1
Gene details
- HGNC symbol
- OGG1
- Aliases
- HMMH; MUTM; OGH1; HOGG1
- Common name
- 8-oxoguanine DNA glycosylase
- Description
- This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq, Aug 2008]
- Other longevity studies of this gene
- 3
- OMIM
- 601982
- Ensembl
- ENSG00000114026
- UniProt/Swiss-Prot
- E5KPM5_HUMAN
- Entrez Gene
- 4968
- UniGene
- 380271
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- ogg1
- Drosophila melanogaster
- Ogg1
- Mus musculus
- Ogg1
- Rattus norvegicus
- Ogg1
- Saccharomyces cerevisiae
- OGG1
In other databases
- CellAge
- This gene is present as OGG1
PDPK1
Gene details
- HGNC symbol
- PDPK1
- Aliases
- PDK1; PDPK2; PDPK2P; PRO0461
- Common name
- 3-phosphoinositide dependent protein kinase 1
- Description
- Other longevity studies of this gene
- 2
- OMIM
- 605213
- Ensembl
- ENSG00000140992
- UniProt/Swiss-Prot
- PDPK1_HUMAN
- Entrez Gene
- 5170
- UniGene
- 459691
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
PER1
Gene details
- HGNC symbol
- PER1
- Aliases
- PER; hPER; RIGUI
- Common name
- period circadian clock 1
- Description
- This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers. Alternative splicing has been observed in this gene; however, these variants have not been fully described. [provided by RefSeq, Jan 2014]
- OMIM
- 602260
- Ensembl
- ENSG00000179094
- UniProt/Swiss-Prot
- PER1_HUMAN
- Entrez Gene
- 5187
- UniGene
- 445534
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenDR gene expression
- A homolog of this gene for Mus musculus is present as Per1
PER2
Gene details
- HGNC symbol
- PER2
- Aliases
- FASPS; FASPS1
- Common name
- period circadian clock 2
- Description
- This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers and have been linked to sleep disorders. [provided by RefSeq, Jan 2014]
- OMIM
- 603426
- Ensembl
- ENSG00000132326
- UniProt/Swiss-Prot
- PER2_HUMAN
- Entrez Gene
- 8864
- UniGene
- 58756
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
PER3
Gene details
- HGNC symbol
- PER3
- Aliases
- GIG13; FASPS3
- Common name
- period circadian clock 3
- Description
- This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been linked to sleep disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014]
- OMIM
- 603427
- Ensembl
- ENSG00000049246
- UniProt/Swiss-Prot
- A0A087WV69_HUMAN
- Entrez Gene
- 8863
- UniGene
- 162200
- HapMap
- View on HapMap
Homologs in model organisms
PIK3CA
Gene details
- HGNC symbol
- PIK3CA
- Aliases
- MCM; CWS5; MCAP; PI3K; CLOVE; MCMTC; PI3K-alpha; p110-alpha
- Common name
- phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
- Description
- Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]
- Other longevity studies of this gene
- 3
- OMIM
- 171834
- Ensembl
- ENSG00000121879
- UniProt/Swiss-Prot
- PK3CA_HUMAN
- Entrez Gene
- 5290
- UniGene
- 553498
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- LOC100334726
- Mus musculus
- Pik3ca
- Rattus norvegicus
- Pik3ca
In other databases
PIK3R1
Gene details
- HGNC symbol
- PIK3R1
- Aliases
- p85; AGM7; GRB1; IMD36; p85-ALPHA
- Common name
- phosphoinositide-3-kinase regulatory subunit 1
- Description
- Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
- Other longevity studies of this gene
- 3
- OMIM
- 171833
- Ensembl
- ENSG00000145675
- UniProt/Swiss-Prot
- P85A_HUMAN
- Entrez Gene
- 5295
- UniGene
- 132225
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge human genes
- This gene is present as PIK3R1
POMC
Gene details
- HGNC symbol
- POMC
- Aliases
- LPH; MSH; NPP; POC; ACTH; CLIP
- Common name
- proopiomelanocortin
- Description
- This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the preproprotein and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. The antimicrobial melanotropin alpha peptide exhibits antibacterial and antifungal activity. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jan 2016]
- OMIM
- 176830
- Ensembl
- ENSG00000115138
- UniProt/Swiss-Prot
- COLI_HUMAN
- Entrez Gene
- 5443
- UniGene
- 1897
- HapMap
- View on HapMap
Homologs in model organisms
PON1
Gene details
- HGNC symbol
- PON1
- Aliases
- ESA; PON; MVCD5
- Common name
- paraoxonase 1
- Description
- The enzyme encoded by this gene is an arylesterase that mainly hydrolyzes paroxon to produce p-nitrophenol. Paroxon is an organophosphorus anticholinesterase compound that is produced in vivo by oxidation of the insecticide parathion. Polymorphisms in this gene are a risk factor in coronary artery disease. The gene is found in a cluster of three related paraoxonase genes at 7q21.3. [provided by RefSeq, Oct 2008]
- Other longevity studies of this gene
- 31
- OMIM
- 168820
- Ensembl
- ENSG00000005421
- UniProt/Swiss-Prot
- PON1_HUMAN
- Entrez Gene
- 5444
- UniGene
- 370995
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
PON2
Gene details
- HGNC symbol
- PON2
- Aliases
- Common name
- paraoxonase 2
- Description
- This gene encodes a member of the paraoxonase gene family, which includes three known members located adjacent to each other on the long arm of chromosome 7. The encoded protein is ubiquitously expressed in human tissues, membrane-bound, and may act as a cellular antioxidant, protecting cells from oxidative stress. Hydrolytic activity against acylhomoserine lactones, important bacterial quorum-sensing mediators, suggests the encoded protein may also play a role in defense responses to pathogenic bacteria. Mutations in this gene may be associated with vascular disease and a number of quantitative phenotypes related to diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 14
- OMIM
- 602447
- Ensembl
- ENSG00000105854
- UniProt/Swiss-Prot
- A0A0J9YYG4_HUMAN
- Entrez Gene
- 5445
- UniGene
- 514420
- HapMap
- View on HapMap
Homologs in model organisms
PPARA
Gene details
- HGNC symbol
- PPARA
- Aliases
- PPAR; NR1C1; hPPAR; PPARalpha
- Common name
- peroxisome proliferator activated receptor alpha
- Description
- Peroxisome proliferators include hypolipidemic drugs, herbicides, leukotriene antagonists, and plasticizers; this term arises because they induce an increase in the size and number of peroxisomes. Peroxisomes are subcellular organelles found in plants and animals that contain enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferators is thought to be mediated via specific receptors, called PPARs, which belong to the steroid hormone receptor superfamily. PPARs affect the expression of target genes involved in cell proliferation, cell differentiation and in immune and inflammation responses. Three closely related subtypes (alpha, beta/delta, and gamma) have been identified. This gene encodes the subtype PPAR-alpha, which is a nuclear transcription factor. Multiple alternatively spliced transcript variants have been described for this gene, although the full-length nature of only two has been determined. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 170998
- Ensembl
- ENSG00000186951
- UniProt/Swiss-Prot
- F1D8S4_HUMAN
- Entrez Gene
- 5465
- UniGene
- 103110
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
PPARGC1A
Gene details
- HGNC symbol
- PPARGC1A
- Aliases
- LEM6; PGC1; PGC1A; PGC-1v; PPARGC1; PGC-1alpha; PGC-1(alpha)
- Common name
- PPARG coactivator 1 alpha
- Description
- The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 7
- OMIM
- 604517
- Ensembl
- ENSG00000109819
- UniProt/Swiss-Prot
- A0A024R9Q9_HUMAN
- Entrez Gene
- 10891
- UniGene
- 527078
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
PPP1R9A
Gene details
- HGNC symbol
- PPP1R9A
- Aliases
- NRB1; NRBI; Neurabin-I
- Common name
- protein phosphatase 1 regulatory subunit 9A
- Description
- This gene is imprinted, and located in a cluster of imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically expressed in other embryonic tissues. The protein encoded by this gene includes a PDZ domain and a sterile alpha motif (SAM). It is a regulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorganization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
- Other longevity studies of this gene
- 5
- OMIM
- 602468
- Ensembl
- ENSG00000158528
- UniProt/Swiss-Prot
- A4D1I0_HUMAN
- Entrez Gene
- 55607
- UniGene
- 21816
- HapMap
- View on HapMap
Homologs in model organisms
PRKAA1
Gene details
- HGNC symbol
- PRKAA1
- Aliases
- AMPK; AMPKa1
- Common name
- protein kinase AMP-activated catalytic subunit alpha 1
- Description
- The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 3
- OMIM
- 602739
- Ensembl
- ENSG00000132356
- UniProt/Swiss-Prot
- AAPK1_HUMAN
- Entrez Gene
- 5562
- UniGene
- 43322
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
PRKCA
Gene details
- HGNC symbol
- PRKCA
- Aliases
- AAG6; PKCA; PRKACA; PKC-alpha
- Common name
- protein kinase C alpha
- Description
- Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 5
- OMIM
- 176960
- Ensembl
- ENSG00000154229
- UniProt/Swiss-Prot
- KPCA_HUMAN
- Entrez Gene
- 5578
- UniGene
- 531704
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge human genes
- This gene is present as PRKCA
PRKCB
Gene details
- HGNC symbol
- PRKCB
- Aliases
- PKCB; PRKCB1; PRKCB2; PKC-beta
- Common name
- protein kinase C beta
- Description
- Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase has been reported to be involved in many different cellular functions, such as B cell activation, apoptosis induction, endothelial cell proliferation, and intestinal sugar absorption. Studies in mice also suggest that this kinase may also regulate neuronal functions and correlate fear-induced conflict behavior after stress. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 1
- OMIM
- 176970
- Ensembl
- ENSG00000166501
- UniProt/Swiss-Prot
- KPCB_HUMAN
- Entrez Gene
- 5579
- UniGene
- 460355
- HapMap
- View on HapMap
Homologs in model organisms
PTPN11
Gene details
- HGNC symbol
- PTPN11
- Aliases
- CFC; NS1; JMML; SHP2; BPTP3; PTP2C; METCDS; PTP-1D; SH-PTP2; SH-PTP3
- Common name
- protein tyrosine phosphatase, non-receptor type 11
- Description
- The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]
- Other longevity studies of this gene
- 2
- OMIM
- 176876
- Ensembl
- ENSG00000179295
- UniProt/Swiss-Prot
- PTN11_HUMAN
- Entrez Gene
- 5781
- UniGene
- 506852
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- CELE_ZK616.8
- Danio rerio
- ptpn11a
- Drosophila melanogaster
- csw
- Mus musculus
- Ptpn11
- Rattus norvegicus
- Ptpn11
- Schizosaccharomyces pombe
- pyp3
In other databases
- GenAge human genes
- This gene is present as PTPN11
RAF1
Gene details
- HGNC symbol
- RAF1
- Aliases
- NS5; CRAF; Raf-1; c-Raf; CMD1NN
- Common name
- Raf-1 proto-oncogene, serine/threonine kinase
- Description
- This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 164760
- Ensembl
- ENSG00000132155
- UniProt/Swiss-Prot
- A0A0S2Z4L5_HUMAN
- Entrez Gene
- 5894
- UniGene
- 159130
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge
- This gene is present as RAF1
RASA1
Gene details
- HGNC symbol
- RASA1
- Aliases
- GAP; PKWS; RASA; p120; CMAVM; CM-AVM; RASGAP; p120GAP; p120RASGAP
- Common name
- RAS p21 protein activator 1
- Description
- The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012]
- Other longevity studies of this gene
- 2
- OMIM
- 139150
- Ensembl
- ENSG00000145715
- UniProt/Swiss-Prot
- Q59GK3_HUMAN
- Entrez Gene
- 5921
- UniGene
- 664080
- HapMap
- View on HapMap
Homologs in model organisms
RPTOR
Gene details
- HGNC symbol
- RPTOR
- Aliases
- KOG1; Mip1
- Common name
- regulatory associated protein of MTOR complex 1
- Description
- This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
- Other longevity studies of this gene
- 63
- OMIM
- 607130
- Ensembl
- ENSG00000141564
- UniProt/Swiss-Prot
- Q6DKI0_HUMAN
- Entrez Gene
- 57521
- UniGene
- 133044
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- daf-15
- Danio rerio
- rptor
- Drosophila melanogaster
- raptor
- Mus musculus
- Rptor
- Rattus norvegicus
- Rptor
- Saccharomyces cerevisiae
- KOG1
- Schizosaccharomyces pombe
- mip1
In other databases
SCAF4
Gene details
- HGNC symbol
- SCAF4
- Aliases
- SRA4; SFRS15
- Common name
- SR-related CTD associated factor 4
- Description
- This gene likely encodes a member of the arginine/serine-rich splicing factor family. A similar protein in Rat appears to bind the large subunit of RNA polymerase II and provide a link between transcription and pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
- OMIM
- 616023
- Ensembl
- ENSG00000156304
- UniProt/Swiss-Prot
- SFR15_HUMAN
- Entrez Gene
- 57466
- UniGene
- 17255
- HapMap
- View on HapMap
Homologs in model organisms
SHC1
Gene details
- HGNC symbol
- SHC1
- Aliases
- SHC; SHCA
- Common name
- SHC adaptor protein 1
- Description
- This gene encodes three main isoforms that differ in activities and subcellular location. While all three are adapter proteins in signal transduction pathways, the longest (p66Shc) may be involved in regulating life span and the effects of reactive oxygen species. The other two isoforms, p52Shc and p46Shc, link activated receptor tyrosine kinases to the Ras pathway by recruitment of the GRB2/SOS complex. p66Shc is not involved in Ras activation. Unlike the other two isoforms, p46Shc is targeted to the mitochondrial matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
- Other longevity studies of this gene
- 4
- OMIM
- 600560
- Ensembl
- ENSG00000160691
- UniProt/Swiss-Prot
- SHC1_HUMAN
- Entrez Gene
- 6464
- UniGene
- 433795
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- si:dkey-246i14.4
- Mus musculus
- Shc1
- Rattus norvegicus
- Shc1
In other databases
SLC2A4
Gene details
- HGNC symbol
- SLC2A4
- Aliases
- GLUT4
- Common name
- solute carrier family 2 member 4
- Description
- This gene is a member of the solute carrier family 2 (facilitated glucose transporter) family and encodes a protein that functions as an insulin-regulated facilitative glucose transporter. In the absence of insulin, this integral membrane protein is sequestered within the cells of muscle and adipose tissue. Within minutes of insulin stimulation, the protein moves to the cell surface and begins to transport glucose across the cell membrane. Mutations in this gene have been associated with noninsulin-dependent diabetes mellitus (NIDDM). [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 3
- OMIM
- 138190
- Ensembl
- ENSG00000181856
- UniProt/Swiss-Prot
- GTR4_HUMAN
- Entrez Gene
- 6517
- UniGene
- 380691
- HapMap
- View on HapMap
Homologs in model organisms
SLC6A3
Gene details
- HGNC symbol
- SLC6A3
- Aliases
- DAT; DAT1; PKDYS
- Common name
- solute carrier family 6 member 3
- Description
- This gene encodes a dopamine transporter which is a member of the sodium- and chloride-dependent neurotransmitter transporter family. The 3' UTR of this gene contains a 40 bp tandem repeat, referred to as a variable number tandem repeat or VNTR, which can be present in 3 to 11 copies. Variation in the number of repeats is associated with idiopathic epilepsy, attention-deficit hyperactivity disorder, dependence on alcohol and cocaine, susceptibility to Parkinson disease and protection against nicotine dependence.[provided by RefSeq, Nov 2009]
- OMIM
- 126455
- Ensembl
- ENSG00000142319
- UniProt/Swiss-Prot
- SC6A3_HUMAN
- Entrez Gene
- 6531
- UniGene
- 406
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- dat-1
- Danio rerio
- uncharacterized_F1QG
- Drosophila melanogaster
- DAT
- Mus musculus
- Slc6a3
- Rattus norvegicus
- Slc6a3
SOCS1
Gene details
- HGNC symbol
- SOCS1
- Aliases
- JAB; CIS1; SSI1; TIP3; CISH1; SSI-1; SOCS-1
- Common name
- suppressor of cytokine signaling 1
- Description
- This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by a subset of cytokines, including IL2, IL3 erythropoietin (EPO), CSF2/GM-CSF, and interferon (IFN)-gamma. The protein encoded by this gene functions downstream of cytokine receptors, and takes part in a negative feedback loop to attenuate cytokine signaling. Knockout studies in mice suggested the role of this gene as a modulator of IFN-gamma action, which is required for normal postnatal growth and survival. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 1
- OMIM
- 603597
- Ensembl
- ENSG00000185338
- UniProt/Swiss-Prot
- Q4JHT5_HUMAN
- Entrez Gene
- 8651
- UniGene
- 50640
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- CELE_F39B2.5
- Danio rerio
- socs1a
- Drosophila melanogaster
- Socs44A
- Mus musculus
- Socs1
- Rattus norvegicus
- Socs1
In other databases
- CellAge
- This gene is present as SOCS1
SOD1
Gene details
- HGNC symbol
- SOD1
- Aliases
- ALS; SOD; ALS1; IPOA; hSod1; HEL-S-44; homodimer
- Common name
- superoxide dismutase 1
- Description
- The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 7
- OMIM
- 147450
- Ensembl
- ENSG00000142168
- UniProt/Swiss-Prot
- SODC_HUMAN
- Entrez Gene
- 6647
- UniGene
- 443914
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- sod-5
- Danio rerio
- sod1
- Drosophila melanogaster
- Sod
- Mus musculus
- Sod1
- Rattus norvegicus
- Sod1
- Saccharomyces cerevisiae
- SOD1
- Schizosaccharomyces pombe
- sod1
In other databases
SOD2
Gene details
- HGNC symbol
- SOD2
- Aliases
- IPOB; IPO-B; MNSOD; MVCD6; Mn-SOD
- Common name
- superoxide dismutase 2
- Description
- This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. [provided by RefSeq, Apr 2016]
- Other longevity studies of this gene
- 21
- OMIM
- 147460
- Ensembl
- ENSG00000112096
- UniProt/Swiss-Prot
- A0A0C4DFU1_HUMAN
- Entrez Gene
- 6648
- UniGene
- 487046
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- sod-3
- Danio rerio
- sod2
- Drosophila melanogaster
- Sod2
- Mus musculus
- Sod2
- Rattus norvegicus
- Sod2
- Saccharomyces cerevisiae
- SOD2
- Schizosaccharomyces pombe
- SPBC16A3.14
In other databases
SOD3
Gene details
- HGNC symbol
- SOD3
- Aliases
- EC-SOD
- Common name
- superoxide dismutase 3
- Description
- This gene encodes a member of the superoxide dismutase (SOD) protein family. SODs are antioxidant enzymes that catalyze the conversion of superoxide radicals into hydrogen peroxide and oxygen, which may protect the brain, lungs, and other tissues from oxidative stress. Proteolytic processing of the encoded protein results in the formation of two distinct homotetramers that differ in their ability to interact with the extracellular matrix (ECM). Homotetramers consisting of the intact protein, or type C subunit, exhibit high affinity for heparin and are anchored to the ECM. Homotetramers consisting of a proteolytically cleaved form of the protein, or type A subunit, exhibit low affinity for heparin and do not interact with the ECM. A mutation in this gene may be associated with increased heart disease risk. [provided by RefSeq, Oct 2015]
- Other longevity studies of this gene
- 16
- OMIM
- 185490
- Ensembl
- ENSG00000109610
- UniProt/Swiss-Prot
- A0A140VJU8_HUMAN
- Entrez Gene
- 6649
- UniGene
- 2420
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge model organism genes
- A homolog of this gene for Mus musculus is present as SOD3
SOS1
Gene details
- HGNC symbol
- SOS1
- Aliases
- GF1; HGF; NS4; GGF1; GINGF
- Common name
- SOS Ras/Rac guanine nucleotide exchange factor 1
- Description
- This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 182530
- Ensembl
- ENSG00000115904
- UniProt/Swiss-Prot
- G5E9C8_HUMAN
- Entrez Gene
- 6654
- UniGene
- 709893
- HapMap
- View on HapMap
Homologs in model organisms
SULT1A1
Gene details
- HGNC symbol
- SULT1A1
- Aliases
- PST; STP; STP1; P-PST; ST1A1; ST1A3; TSPST1; HAST1/HAST2
- Common name
- sulfotransferase family 1A member 1
- Description
- Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes one of two phenol sulfotransferases with thermostable enzyme activity. Multiple alternatively spliced variants that encode two isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 171150
- Ensembl
- ENSG00000196502
- UniProt/Swiss-Prot
- ST1A1_HUMAN
- Entrez Gene
- 6817
- UniGene
- 567342
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- sult1st5
SULT1A2
Gene details
- HGNC symbol
- SULT1A2
- Aliases
- STP2; HAST4; P-PST; ST1A2; TSPST2
- Common name
- sulfotransferase family 1A member 2
- Description
- Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes one of two phenol sulfotransferases with thermostable enzyme activity. Two alternatively spliced variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 601292
- Ensembl
- ENSG00000197165
- UniProt/Swiss-Prot
- E9PKW4_HUMAN
- Entrez Gene
- 6799
- UniGene
- 546304
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
TAB1
Gene details
- HGNC symbol
- TAB1
- Aliases
- 3'-Tab1; MAP3K7IP1
- Common name
- TGF-beta activated kinase 1 (MAP3K7) binding protein 1
- Description
- The protein encoded by this gene was identified as a regulator of the MAP kinase kinase kinase MAP3K7/TAK1, which is known to mediate various intracellular signaling pathways, such as those induced by TGF beta, interleukin 1, and WNT-1. This protein interacts and thus activates TAK1 kinase. It has been shown that the C-terminal portion of this protein is sufficient for binding and activation of TAK1, while a portion of the N-terminus acts as a dominant-negative inhibitor of TGF beta, suggesting that this protein may function as a mediator between TGF beta receptors and TAK1. This protein can also interact with and activate the mitogen-activated protein kinase 14 (MAPK14/p38alpha), and thus represents an alternative activation pathway, in addition to the MAPKK pathways, which contributes to the biological responses of MAPK14 to various stimuli. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
- OMIM
- 602615
- Ensembl
- ENSG00000100324
- UniProt/Swiss-Prot
- A8K6K3_HUMAN
- Entrez Gene
- 10454
- UniGene
- 507681
- HapMap
- View on HapMap
Homologs in model organisms
TGFB1
Gene details
- HGNC symbol
- TGFB1
- Aliases
- CED; LAP; DPD1; TGFB; TGFbeta
- Common name
- transforming growth factor beta 1
- Description
- This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]
- Other longevity studies of this gene
- 17
- OMIM
- 190180
- Ensembl
- ENSG00000105329
- UniProt/Swiss-Prot
- TGFB1_HUMAN
- Entrez Gene
- 7040
- UniGene
- 645227
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge human genes
- This gene is present as TGFB1
TH
Gene details
- HGNC symbol
- TH
- Aliases
- TYH; DYT14; DYT5b
- Common name
- tyrosine hydroxylase
- Description
- The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 4
- OMIM
- 191290
- Ensembl
- ENSG00000180176
- UniProt/Swiss-Prot
- P78428_HUMAN
- Entrez Gene
- 7054
- UniGene
- 435609
- HapMap
- View on HapMap
Homologs in model organisms
TNF
Gene details
- HGNC symbol
- TNF
- Aliases
- DIF; TNFA; TNFSF2; TNLG1F; TNF-alpha
- Common name
- tumor necrosis factor
- Description
- This gene encodes a multifunctional proinflammatory cytokine that belongs to the tumor necrosis factor (TNF) superfamily. This cytokine is mainly secreted by macrophages. It can bind to, and thus functions through its receptors TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. This cytokine is involved in the regulation of a wide spectrum of biological processes including cell proliferation, differentiation, apoptosis, lipid metabolism, and coagulation. This cytokine has been implicated in a variety of diseases, including autoimmune diseases, insulin resistance, and cancer. Knockout studies in mice also suggested the neuroprotective function of this cytokine. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 13
- OMIM
- 191160
- Ensembl
- ENSG00000232810
- UniProt/Swiss-Prot
- Q5STB3_HUMAN
- Entrez Gene
- 7124
- UniGene
- 241570
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge human genes
- This gene is present as TNF
TP53
Gene details
- HGNC symbol
- TP53
- Aliases
- P53; BCC7; LFS1; TRP53
- Common name
- tumor protein p53
- Description
- This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]
- Other longevity studies of this gene
- 47
- OMIM
- 191170
- Ensembl
- ENSG00000141510
- UniProt/Swiss-Prot
- A0A087WT22_HUMAN
- Entrez Gene
- 7157
- UniGene
- 437460
- HapMap
- View on HapMap