DISEASES

Disease-gene associations mined from literature

Literature associating ERAP1 and ankylosis

ERAP1 [ENSP00000296754]

Endoplasmic reticulum aminopeptidase 1; Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I-binding peptides. Peptide trimming is essential to customize longer precursor peptides to fit them to the correct length required for presentation on MHC class I molecules. Strongly prefers substrates 9-16 residues long. Rapidly degrades 13-mer to a 9-mer and then stops. Preferentially hydrolyzes the residue Leu and peptides with a hydrophobic C-terminus, while it has weak activity toward peptides with charged C-terminus. May play a role in the inactivation of peptide hormones. May be involved in the regulation of blood pressure through the inactivation of angiotensin II and/or the generation of bradykinin in the kidney.

Synonyms:  ERAP1,  ERAP1p,  hERAP1,  A0A1D5RMR7,  D6RAL9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM