Gene: LOC102724748

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs469758 in LOC102724748;ERAP1 gene and Ankylosing spondylitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs17482078 in LOC102724748;ERAP1 gene and Behcet Syndrome PMID 23291587 2013 Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1.

rs17482078 in LOC102724748;ERAP1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs469758 in LOC102724748;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.

rs469758 in LOC102724748;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.

rs39841 in LOC102724748;ERAP1 gene and Psoriasis PMID 25574825 2015 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.

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

rs42398 in LOC102724748;ERAP1 gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs469758 in LOC102724748;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.