Gene: ERAP1

Alternate names for this Gene: A-LAP|ALAP|APPILS|ARTS-1|ARTS1|ERAAP|ERAAP1|PILS-AP|PILSAP

Gene Summary: The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by inactivation of angiotensin II. Three transcript variants encoding two different isoforms have been found for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5q15

Description of this Gene: endoplasmic reticulum aminopeptidase 1

Type of Gene: protein-coding

rs202110856 in ERAP1 gene and Adenocarcinoma of large intestine PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

rs10045403 in ERAP1 gene and Ankylosing spondylitis PMID 23749187 2013 Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.

PMID 21743469 2011 Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.

PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

PMID 20062062 2010 Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.

PMID 30946743 2019 Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis.

rs2013717 in ERAP1 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs202110856 in ERAP1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

rs202110856 in ERAP1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

rs202110856 in ERAP1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

rs202110856 in ERAP1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

rs35134 in ERAP1 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2549803 in ERAP1 gene and Cholangitis, Sclerosing PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs202110856 in ERAP1 gene and Colorectal Carcinoma PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

rs202110856 in ERAP1 gene and Colorectal Neoplasms PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

rs2549803 in ERAP1 gene and Crohn Disease PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs10045403 in ERAP1 gene and Frontal fibrosing alopecia PMID 30850646 2019 Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02.

rs202110856 in ERAP1 gene and Malignant neoplasm of large intestine PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

rs202110856 in ERAP1 gene and Malignant tumor of colon PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

rs10045403 in ERAP1 gene and Postmenopausal frontal fibrosing alopecia PMID 30850646 2019 Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02.

rs151823 in ERAP1 gene and Psoriasis PMID 20953187 2010 Association analyses identify six new psoriasis susceptibility loci in the Chinese population.

PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs709668 in ERAP1 gene and Systolic Pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2549803 in ERAP1 gene and Ulcerative Colitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.