LongevityMap Gene

Gene details

HGNC symbol: POT1
Aliases: GLM9; CMM10; HPOT1
Common name: protection of telomeres 1
Description: This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
Cytogenetic Location: 7q31.33
UCSC Genome Browser: View 7q31.33 on the UCSC genome browser
OMIM: 606478
Ensembl: ENSG00000128513
UniProt/Swiss-Prot: A0A024R739_HUMAN
Entrez Gene: 25913
UniGene: 31968
1000 Genomes: 1000 Genomes

Homologs in model organisms

Danio rerio: pot1
Mus musculus: Pot1a
Mus musculus: Pot1b
Rattus norvegicus: Pot1b
Rattus norvegicus: Pot1
Schizosaccharomyces pombe: pot1

In other databases

CellAge

This gene is present as POT1

Studies (2)

Significant/Non-significant: 1/1

Study 1

Longevity Association

Population

Study Design

Studied genetic variation in the insulin/insulin-like growth factor signaling (IIS) pathway and in the telomere maintenance pathway for associations with longevity in 403 unrelated nonagenarians and 1,670 younger controls

Conclusions

SNP sets in both pathways were associated with longevity with the association of the IIS pathway defined by several genes (AKT1, AKT3, FOXO4, IGF2, INS, PIK3CA, SGK, SGK2, and YWHAG), while the telomere maintenance pathway seemed to be mainly determined by POT1 since only these genes showed an association with longevity

Indentifier

Reference

Study 2

Longevity Association: Non-significant
Population: Danish
Study Design: 592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
Conclusions: The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
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