Disease-gene associations mined from literature

Literature on HERC1

HERC1 [ENSP00000390158]

HECT and RLD domain containing E3 ubiquitin protein ligase family member 1; Involved in membrane trafficking via some guanine nucleotide exchange factor (GEF) activity and its ability to bind clathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDP for free GTP. Binds phosphatidylinositol 4,5-bisphosphate, which is required for GEF activity. May also act as a E3 ubiquitin- protein ligase which accepts ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates; WD repeat domain containing

Synonyms:  HERC1,  HERC1p,  hHERC1,  A0A024R5W0,  B4DKS2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM