LongevityMap variant group
Entry Details
- Longevity Association
- Non-significant
- Population
- Italian
- Study Design
- 30 SNPs were identified by sequencing the promoter and exons of p21 in ten individuals over 90 years old. Then the frequency of 41 p21 SNPs between 184 centenarians and 184 younger subjects in the Italian population were compared.
- Conclusions
- Rare alleles of two exon-derived SNPs, rs1801270 and rs1059234, were significantly under-represented among the centenarians; no significant differences were found for 39 non-exonic SNPs
Variants (31)
- Gene summary:
- No gene (10)
- CDKN1A (19)
- PANDAR (1)
- RAB44 (1)
No gene
CDKN1A
Gene details
- HGNC symbol
- CDKN1A
- Aliases
- P21; CIP1; SDI1; WAF1; CAP20; CDKN1; MDA-6; p21CIP1
- Common name
- cyclin dependent kinase inhibitor 1A
- Description
- This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen, a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of cyclin-dependent kinase2, and may be instrumental in the execution of apoptosis following caspase activation. Mice that lack this gene have the ability to regenerate damaged or missing tissue. Multiple alternatively spliced variants have been found for this gene. [provided by RefSeq, Sep 2015]
- Other longevity studies of this gene
- 20
- OMIM
- 116899
- Ensembl
- ENSG00000124762
- UniProt/Swiss-Prot
- A0A024RCX5_HUMAN
- Entrez Gene
- 1026
- UniGene
- 370771
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
PANDAR
Gene details
- HGNC symbol
- PANDAR
- Aliases
- PANDA
- Common name
- promoter of CDKN1A antisense DNA damage activated RNA
- Description
- OMIM
- 617179
- Ensembl
- ENSG00000281450
- UniProt/Swiss-Prot
- Entrez Gene
- 101154753
- UniGene
- 741557
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
RAB44
Gene details
- HGNC symbol
- RAB44
- Aliases
- RASD3; RASL13; dJ431A14.3
- Common name
- RAB44, member RAS oncogene family
- Description
- OMIM
- Ensembl
- ENSG00000255587
- UniProt/Swiss-Prot
- A0A087WXI0_HUMAN
- Entrez Gene
- 401258
- UniGene
- 485258
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found