DISEASES

Disease-gene associations mined from literature

Literature associating HM13 and hepatitis C

HM13 [ENSP00000381237]

Minor histocompatibility antigen H13; Catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein, resulting in the release of the fragment from the ER membrane into the cytoplasm. Required to generate lymphocyte cell surface (HLA-E) epitopes derived from MHC class I signal peptides . May be necessary for the removal of the signal peptide that remains attached to the hepatitis C virus core protein after the initial proteolytic processing of the polyprotein . Involved in the intramembrane cleavage of the integral membrane protein PSEN1 (PubMed:12077416, PubMed:11714810, PubMed:14741365). Cleaves the integral membrane protein XBP1 isoform 1 in a DERL1/RNF139-dependent manner . May play a role in graft rejection (By similarity). ECO:0000269|PubMed:12077416, ECO:0000269|PubMed:12145199,

Synonyms:  HM13,  HM13p,  hHM13,  A0A075B6F6,  A0A087WVH6 ...

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