LongevityMap Gene

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]
Cytogenetic Location
17p13.1
UCSC Genome Browser
View 17p13.1 on the UCSC genome browser
OMIM
602260
Ensembl
ENSG00000179094
UniProt/Swiss-Prot
PER1_HUMAN
Entrez Gene
5187
UniGene
445534
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
per1a
Mus musculus
Per1
Rattus norvegicus
Per1

In other databases

GenDR gene expression
  • A homolog of this gene for Mus musculus is present as Per1

Studies (1)

Significant/Non-significant: 0/1

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.
Indentifier
rs2253820
Reference