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
Gene: CAST
Alternate names for this Gene: BS-17|PLACK
Gene Summary: The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described.
Gene is located in Chromosome: 5
Location in Chromosome : 5q15
Description of this Gene: calpastatin
Type of Gene: protein-coding
rs27524 in
ERAP1;CAST gene and
Psoriasis
PMID 25574825 2015 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.
PMID 20953190 2010 A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.