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

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

rs27033 in CAST;ERAP1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.