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
Pot1
Rattus norvegicus
Pot1b
Schizosaccharomyces pombe
pot1

In other databases

CellAge
  • This gene is present as POT1

Studies (2)

Significant/Non-significant: 1/1

Study 1

Longevity Association
Significant
Population
Dutch
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
POT1
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.
    Indentifier
    rs929365
    Reference