LongevityMap variant group
Entry Details
- Longevity Association
- Non-significant
- Population
- Italian
- Study Design
- Genome-wide association study on 410 long-living individuals (age range, 90–109 years) and 553 young control individuals (age range, 18–48 years) using 318,237 SNPs. An independent population with 116 long-lived individuals and 160 controls was used for replication purposes.
- Conclusions
- A total of 67 SNPs were identified with an indication of potentially being associated with longevity (p < 1 × 10−4), though 66 were not further validated
Variants (66)
- Gene summary:
- No gene (21)
- ABCC8 (1)
- ACTR3B (1)
- ANKRD19P (1)
- ATXN1 (1)
- BPIFB4 (1)
- C8orf37-AS1 (3)
- CDH23 (1)
- CFLAR (1)
- DCLK1 (1)
- FAM49B (1)
- FARP1 (1)
- FMN2 (1)
- FRYL (1)
- GRIP1 (1)
- GRM7 (1)
- HMCN2 (1)
- IMPG2 (2)
- KCNH1 (1)
- KIAA1644 (1)
- KIFC3 (2)
- LINC02476 (2)
- LMCD1-AS1 (1)
- LOC101928977 (1)
- LOC101929628 (1)
- LOC107984215 (1)
- MDGA2 (2)
- PCAT29 (1)
- PRKCA (1)
- PTPRO (1)
- RHOBTB3 (1)
- SH3BP4 (1)
- SORCS1 (1)
- SUMF1 (2)
- TENM4 (3)
- TMEM61 (1)
- TRANK1 (1)
No gene
ABCC8
Gene details
- HGNC symbol
- ABCC8
- Aliases
- HI; SUR; HHF1; MRP8; PHHI; SUR1; ABC36; HRINS; TNDM2; SUR1delta2
- Common name
- ATP binding cassette subfamily C member 8
- Description
- The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
- Other longevity studies of this gene
- 1
- OMIM
- 600509
- Ensembl
- ENSG00000006071
- UniProt/Swiss-Prot
- ABCC8_HUMAN
- Entrez Gene
- 6833
- UniGene
- 54470
- HapMap
- View on HapMap
Homologs in model organisms
ACTR3B
Gene details
- HGNC symbol
- ACTR3B
- Aliases
- ARP11; ARP3BETA
- Common name
- ARP3 actin related protein 3 homolog B
- Description
- This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
- OMIM
- Ensembl
- ENSG00000133627
- UniProt/Swiss-Prot
- ARP3B_HUMAN
- Entrez Gene
- 57180
- UniGene
- 647117
- HapMap
- View on HapMap
Homologs in model organisms
ANKRD19P
Gene details
- HGNC symbol
- ANKRD19P
- Aliases
- ANKRD19; bA526D8.2
- Common name
- ankyrin repeat domain 19, pseudogene
- Description
- OMIM
- Ensembl
- ENSG00000187984
- UniProt/Swiss-Prot
- Entrez Gene
- 138649
- UniGene
- 643597
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
ATXN1
Gene details
- HGNC symbol
- ATXN1
- Aliases
- ATX1; SCA1; D6S504E
- Common name
- ataxin 1
- Description
- The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2016]
- OMIM
- 601556
- Ensembl
- ENSG00000124788
- UniProt/Swiss-Prot
- ATX1_HUMAN
- Entrez Gene
- 6310
- UniGene
- 434961
- HapMap
- View on HapMap
Homologs in model organisms
BPIFB4
Gene details
- HGNC symbol
- BPIFB4
- Aliases
- RY2G5; LPLUNC4; C20orf186; dJ726C3.5
- Common name
- BPI fold containing family B member 4
- Description
- OMIM
- 615718
- Ensembl
- ENSG00000186191
- UniProt/Swiss-Prot
- BPIB4_HUMAN
- Entrez Gene
- 149954
- UniGene
- 38961
- HapMap
- View on HapMap
Homologs in model organisms
C8orf37-AS1
Gene details
- HGNC symbol
- C8orf37-AS1
- Aliases
- Common name
- C8orf37 antisense RNA 1
- Description
- Other longevity studies of this gene
- 2
- OMIM
- Ensembl
- ENSG00000253773
- UniProt/Swiss-Prot
- Entrez Gene
- 100616530
- UniGene
- 554328
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
CDH23
Gene details
- HGNC symbol
- CDH23
- Aliases
- USH1D; CDHR23
- Common name
- cadherin related 23
- Description
- This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]
- OMIM
- 605516
- Ensembl
- ENSG00000107736
- UniProt/Swiss-Prot
- A0A087WYR8_HUMAN
- Entrez Gene
- 64072
- UniGene
- 656032
- HapMap
- View on HapMap
Homologs in model organisms
CFLAR
Gene details
- HGNC symbol
- CFLAR
- Aliases
- CASH; FLIP; MRIT; CLARP; FLAME; Casper; FLAME1; c-FLIP; FLAME-1; I-FLICE; c-FLIPL; c-FLIPR; c-FLIPS; CASP8AP1
- Common name
- CASP8 and FADD like apoptosis regulator
- Description
- The protein encoded by this gene is a regulator of apoptosis and is structurally similar to caspase-8. However, the encoded protein lacks caspase activity and appears to be itself cleaved into two peptides by caspase-8. Several transcript variants encoding different isoforms have been found for this gene, and partial evidence for several more variants exists. [provided by RefSeq, Feb 2011]
- OMIM
- 603599
- Ensembl
- ENSG00000003402
- UniProt/Swiss-Prot
- A0A024R3Y3_HUMAN
- Entrez Gene
- 8837
- UniGene
- 390736
- HapMap
- View on HapMap
Homologs in model organisms
DCLK1
Gene details
- HGNC symbol
- DCLK1
- Aliases
- CL1; DCLK; CLICK1; DCDC3A; DCAMKL1
- Common name
- doublecortin like kinase 1
- Description
- This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. The encoded protein is involved in several different cellular processes, including neuronal migration, retrograde transport, neuronal apoptosis and neurogenesis. This gene is up-regulated by brain-derived neurotrophic factor and associated with memory and general cognitive abilities. Multiple transcript variants generated by two alternative promoter usage and alternative splicing have been reported, but the full-length nature and biological validity of some variants have not been defined. These variants encode different isoforms, which are differentially expressed and have different kinase activities.[provided by RefSeq, Sep 2010]
- OMIM
- 604742
- Ensembl
- ENSG00000133083
- UniProt/Swiss-Prot
- B7Z5K4_HUMAN
- Entrez Gene
- 9201
- UniGene
- 507755
- HapMap
- View on HapMap
Homologs in model organisms
FAM49B
Gene details
- HGNC symbol
- FAM49B
- Aliases
- L1; BM-009
- Common name
- family with sequence similarity 49 member B
- Description
- OMIM
- Ensembl
- ENSG00000153310
- UniProt/Swiss-Prot
- A0A024R9G4_HUMAN
- Entrez Gene
- 51571
- UniGene
- 126941
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- CELE_R07G3.8
- Danio rerio
- fam49bb
- Mus musculus
- Fam49b
- Rattus norvegicus
- Fam49b
FARP1
Gene details
- HGNC symbol
- FARP1
- Aliases
- CDEP; PLEKHC2; PPP1R75; FARP1-IT1
- Common name
- FERM, ARH/RhoGEF and pleckstrin domain protein 1
- Description
- This gene encodes a protein containing a FERM (4.2, exrin, radixin, moesin) domain, a Dbl homology domain, and two pleckstrin homology domains. These domains are found in guanine nucleotide exchange factors and proteins that link the cytoskeleton to the cell membrane. The encoded protein functions in neurons to promote dendritic growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
- OMIM
- 602654
- Ensembl
- ENSG00000152767
- UniProt/Swiss-Prot
- C9JME2_HUMAN
- Entrez Gene
- 10160
- UniGene
- 403917
- HapMap
- View on HapMap
Homologs in model organisms
FMN2
Gene details
- HGNC symbol
- FMN2
- Aliases
- Common name
- formin 2
- Description
- This gene is a member of the formin homology protein family. The encoded protein is thought to have essential roles in organization of the actin cytoskeleton and in cell polarity. Mutations in this gene have been associated with mental retardation autosomal recessive 47 (MRT47). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
- OMIM
- 606373
- Ensembl
- ENSG00000155816
- UniProt/Swiss-Prot
- FMN2_HUMAN
- Entrez Gene
- 56776
- UniGene
- 24889
- HapMap
- View on HapMap
Homologs in model organisms
FRYL
Gene details
- HGNC symbol
- FRYL
- Aliases
- MOR2; AF4p12; KIAA0826
- Common name
- FRY like transcription coactivator
- Description
- OMIM
- Ensembl
- ENSG00000075539
- UniProt/Swiss-Prot
- B3KXG5_HUMAN
- Entrez Gene
- 285527
- UniGene
- 595553
- HapMap
- View on HapMap
Homologs in model organisms
GRIP1
Gene details
- HGNC symbol
- GRIP1
- Aliases
- GRIP
- Common name
- glutamate receptor interacting protein 1
- Description
- This gene encodes a member of the glutamate receptor interacting protein family. The encoded scaffold protein binds to and mediates the trafficking and membrane organization of a number of transmembrane proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010]
- OMIM
- 604597
- Ensembl
- ENSG00000155974
- UniProt/Swiss-Prot
- GRIP1_HUMAN
- Entrez Gene
- 23426
- UniGene
- 505946
- HapMap
- View on HapMap
Homologs in model organisms
GRM7
Gene details
- HGNC symbol
- GRM7
- Aliases
- GLUR7; MGLU7; GPRC1G; MGLUR7; PPP1R87
- Common name
- glutamate metabotropic receptor 7
- Description
- L-glutamate is the major excitatory neurotransmitter in the central nervous system, and it activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors that have been divided into three groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5, and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3, while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
- OMIM
- 604101
- Ensembl
- ENSG00000196277
- UniProt/Swiss-Prot
- B2R693_HUMAN
- Entrez Gene
- 2917
- UniGene
- 606393
- HapMap
- View on HapMap
Homologs in model organisms
HMCN2
Gene details
- HGNC symbol
- HMCN2
- Aliases
- Common name
- hemicentin 2
- Description
- OMIM
- Ensembl
- ENSG00000148357
- UniProt/Swiss-Prot
- Entrez Gene
- 256158
- UniGene
- 32194
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
IMPG2
Gene details
- HGNC symbol
- IMPG2
- Aliases
- RP56; VMD5; IPM200; SPACRCAN
- Common name
- interphotoreceptor matrix proteoglycan 2
- Description
- The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote the growth and maintenance of the light-sensitive photoreceptor outer segment. Defects in this gene are a cause of retinitis pigmentosa type 56 and maculopathy, IMPG2-related.[provided by RefSeq, Mar 2011]
- Other longevity studies of this gene
- 1
- OMIM
- 607056
- Ensembl
- ENSG00000081148
- UniProt/Swiss-Prot
- F1T0J3_HUMAN
- Entrez Gene
- 50939
- UniGene
- 209249
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- si:ch211-239j15.1
- Mus musculus
- Impg2
- Rattus norvegicus
- Impg2
KCNH1
Gene details
- HGNC symbol
- KCNH1
- Aliases
- EAG; EAG1; ZLS1; TMBTS; h-eag; hEAG1; Kv10.1
- Common name
- potassium voltage-gated channel subfamily H member 1
- Description
- Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
- OMIM
- 603305
- Ensembl
- ENSG00000143473
- UniProt/Swiss-Prot
- KCNH1_HUMAN
- Entrez Gene
- 3756
- UniGene
- 553187
- HapMap
- View on HapMap
Homologs in model organisms
KIAA1644
Gene details
- HGNC symbol
- KIAA1644
- Aliases
- Common name
- KIAA1644
- Description
- OMIM
- Ensembl
- ENSG00000138944
- UniProt/Swiss-Prot
- K1644_HUMAN
- Entrez Gene
- 85352
- UniGene
- 6829
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- LOC100330736
- Mus musculus
- Kiaa1644
- Rattus norvegicus
- RGD1566029
KIFC3
Gene details
- HGNC symbol
- KIFC3
- Aliases
- Common name
- kinesin family member C3
- Description
- This gene encodes a member of the kinesin-14 family of microtubule motors. Members of this family play a role in the formation, maintenance and remodeling of the bipolar mitotic spindle. The protein encoded by this gene has cytoplasmic functions in the interphase cells. It may also be involved in the final stages of cytokinesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
- Other longevity studies of this gene
- 1
- OMIM
- 604535
- Ensembl
- ENSG00000140859
- UniProt/Swiss-Prot
- B7Z5U4_HUMAN
- Entrez Gene
- 3801
- UniGene
- 23131
- HapMap
- View on HapMap
Homologs in model organisms
LINC02476
Gene details
- HGNC symbol
- LINC02476
- Aliases
- LVCAT5
- Common name
- long intergenic non-protein coding RNA 2476
- Description
- Other longevity studies of this gene
- 1
- OMIM
- Ensembl
- ENSG00000225546
- UniProt/Swiss-Prot
- Entrez Gene
- 105375475
- UniGene
- 566654
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LMCD1-AS1
Gene details
- HGNC symbol
- LMCD1-AS1
- Aliases
- Common name
- LMCD1 antisense RNA 1 (head to head)
- Description
- OMIM
- Ensembl
- ENSG00000227110
- UniProt/Swiss-Prot
- Entrez Gene
- 100288428
- UniGene
- 651576
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC101928977
Gene details
- HGNC symbol
- LOC101928977
- Aliases
- Common name
- uncharacterized LOC101928977
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 101928977
- UniGene
- 627914
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC101929628
Gene details
- HGNC symbol
- LOC101929628
- Aliases
- Common name
- uncharacterized LOC101929628
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 101929628
- UniGene
- 116324
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC107984215
Gene details
- HGNC symbol
- LOC107984215
- Aliases
- Common name
- uncharacterized LOC107984215
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 107984215
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
MDGA2
Gene details
- HGNC symbol
- MDGA2
- Aliases
- MAMDC1; c14_5286
- Common name
- MAM domain containing glycosylphosphatidylinositol anchor 2
- Description
- Other longevity studies of this gene
- 1
- OMIM
- 611128
- Ensembl
- ENSG00000139915
- UniProt/Swiss-Prot
- MDGA2_HUMAN
- Entrez Gene
- 161357
- UniGene
- 436380
- HapMap
- View on HapMap
Homologs in model organisms
PCAT29
Gene details
- HGNC symbol
- PCAT29
- Aliases
- Common name
- prostate cancer associated transcript 29 (non-protein coding)
- Description
- This gene is thought to produce a functional long non-coding RNA. This transcript was identified in prostate cancer cells and may suppress tumor formation. [provided by RefSeq, Feb 2015]
- OMIM
- 616273
- Ensembl
- ENSG00000259641
- UniProt/Swiss-Prot
- Entrez Gene
- 104472713
- UniGene
- 430824
- 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
PTPRO
Gene details
- HGNC symbol
- PTPRO
- Aliases
- NPHS6; PTPU2; GLEPP1; PTP-OC; PTP-U2; PTPROT; R-PTP-O
- Common name
- protein tyrosine phosphatase, receptor type O
- Description
- This gene encodes a member of the R3 subtype family of receptor-type protein tyrosine phosphatases. These proteins are localized to the apical surface of polarized cells and may have tissue-specific functions through activation of Src family kinases. This gene contains two distinct promoters, and alternatively spliced transcript variants encoding multiple isoforms have been observed. The encoded proteins may have multiple isoform-specific and tissue-specific functions, including the regulation of osteoclast production and activity, inhibition of cell proliferation and facilitation of apoptosis. This gene is a candidate tumor suppressor, and decreased expression of this gene has been observed in several types of cancer. [provided by RefSeq, May 2011]
- OMIM
- 600579
- Ensembl
- ENSG00000151490
- UniProt/Swiss-Prot
- A0A024RAS0_HUMAN
- Entrez Gene
- 5800
- UniGene
- 160871
- HapMap
- View on HapMap
Homologs in model organisms
RHOBTB3
Gene details
- HGNC symbol
- RHOBTB3
- Aliases
- Common name
- Rho related BTB domain containing 3
- Description
- RHOBTB3 is a member of the evolutionarily conserved RHOBTB subfamily of Rho GTPases. For background information on RHOBTBs, see RHOBTB1 (MIM 607351).[supplied by OMIM, Apr 2004]
- OMIM
- 607353
- Ensembl
- ENSG00000164292
- UniProt/Swiss-Prot
- RHBT3_HUMAN
- Entrez Gene
- 22836
- UniGene
- 445030
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- si:dkey-6b12.5
- Mus musculus
- Rhobtb3
- Rattus norvegicus
- Rhobtb3
SH3BP4
Gene details
- HGNC symbol
- SH3BP4
- Aliases
- TTP; BOG25
- Common name
- SH3 domain binding protein 4
- Description
- This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq, Jul 2008]
- OMIM
- 605611
- Ensembl
- ENSG00000130147
- UniProt/Swiss-Prot
- SH3B4_HUMAN
- Entrez Gene
- 23677
- UniGene
- 516777
- HapMap
- View on HapMap
Homologs in model organisms
SORCS1
Gene details
- HGNC symbol
- SORCS1
- Aliases
- hSorCS
- Common name
- sortilin related VPS10 domain containing receptor 1
- Description
- This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 1
- OMIM
- 606283
- Ensembl
- ENSG00000108018
- UniProt/Swiss-Prot
- A8K182_HUMAN
- Entrez Gene
- 114815
- UniGene
- 591915
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- CABZ01076351.1
- Mus musculus
- Sorcs1
- Rattus norvegicus
- Sorcs1
SUMF1
Gene details
- HGNC symbol
- SUMF1
- Aliases
- FGE; UNQ3037; AAPA3037
- Common name
- sulfatase modifying factor 1
- Description
- This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
- Other longevity studies of this gene
- 2
- OMIM
- 607939
- Ensembl
- ENSG00000144455
- UniProt/Swiss-Prot
- SUMF1_HUMAN
- Entrez Gene
- 285362
- UniGene
- 350475
- HapMap
- View on HapMap
Homologs in model organisms
TENM4
Gene details
- HGNC symbol
- TENM4
- Aliases
- Doc4; ETM5; ODZ4; TNM4; ten-4; Ten-M4
- Common name
- teneurin transmembrane protein 4
- Description
- The protein encoded by this gene plays a role in establishing proper neuronal connectivity during development. Defects in this gene have been associated with hereditary essential tremor-5. [provided by RefSeq, Oct 2016]
- Other longevity studies of this gene
- 3
- OMIM
- 610084
- Ensembl
- ENSG00000149256
- UniProt/Swiss-Prot
- TEN4_HUMAN
- Entrez Gene
- 26011
- UniGene
- 213087
- HapMap
- View on HapMap
Homologs in model organisms
TMEM61
Gene details
- HGNC symbol
- TMEM61
- Aliases
- Common name
- transmembrane protein 61
- Description
- OMIM
- Ensembl
- ENSG00000143001
- UniProt/Swiss-Prot
- TMM61_HUMAN
- Entrez Gene
- 199964
- UniGene
- 663950
- HapMap
- View on HapMap
Homologs in model organisms
- Rattus norvegicus
- uncharacterized_F1M1
TRANK1
Gene details
- HGNC symbol
- TRANK1
- Aliases
- LBA1
- Common name
- tetratricopeptide repeat and ankyrin repeat containing 1
- Description
- OMIM
- Ensembl
- ENSG00000168016
- UniProt/Swiss-Prot
- TRNK1_HUMAN
- Entrez Gene
- 9881
- UniGene
- 170999
- HapMap
- View on HapMap