Gene: PGPEP1

Alternate names for this Gene: PAP-I|PGI|PGP|PGP-I|PGPI|Pcp

Gene Summary: 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.11

Description of this Gene: pyroglutamyl-peptidase I

Type of Gene: protein-coding

rs113230003 in PGPEP1 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 26426971 2015 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.

PMID 26961502 2016 Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively.

PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.

PMID 25673413 2015 Genetic studies of body mass index yield new insights for obesity biology.

rs113230003 in PGPEP1 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs66978877 in PGPEP1 gene and Hypertensive disease PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs7248363 in PGPEP1 gene and Mental disorders PMID 20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.

rs3746181 in PGPEP1 gene and Oral Ulcer PMID 30837455 2019 Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.

rs7248363 in PGPEP1 gene and Psychotic Disorders PMID 20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.

rs12459965 in PGPEP1 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12986231 in PGPEP1 gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.