LongevityMap Gene

Gene details

HGNC symbol
PGPEP1 
Aliases
PGI; PGP; Pcp; PGPI; PAP-I; PGP-I 
Common name
pyroglutamyl-peptidase I 
Description
The gene encodes a cysteine protease and member of the peptidase C15 family of proteins. The encoded protein cleaves amino terminal pyroglutamate residues from protein substrates including thyrotropin-releasing hormone and other neuropeptides. Expression of this gene may be downregulated in colorectal cancer, while activity of the encoded protein may be negatively correlated with cancer progression in colorectal cancer patients. Activity of the encoded protease may also be altered in other disease states including in liver cirrhosis, which is associated with reduced protease activity, and in necrozoospermia, which is associated with elevated protease activity. [provided by RefSeq, Jul 2016]
Cytogenetic Location
19p13.11
UCSC Genome Browser
View 19p13.11 on the UCSC genome browser
OMIM
610694
Ensembl
ENSG00000130517
UniProt/Swiss-Prot
PGPI_HUMAN
Entrez Gene
54858
UniGene
131776
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
pgpep1
Mus musculus
Pgpep1
Rattus norvegicus
Pgpep1

Studies (1)

Significant/Non-significant: 1/0

Longevity Association
Significant
Population
American (Caucasian)
Study Design
Genome-wide association study in 801 centenarians and 914 healthy controls
Conclusions
281 SNPs were found to discriminate between cases and controls
Indentifier
rs11086106
Reference