HERC1 gene

HECT and RLD domain containing E3 ubiquitin protein ligase family member 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]

From UniProt:

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.

From NCBI Gene:

  • Macrocephaly, dysmorphic facies, and psychomotor retardation

Cytogenetic Location: 15q22.31, which is the long (q) arm of chromosome 15 at position 22.31

Molecular Location: base pairs 63,608,618 to 63,833,964 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q22.31, which is the long (q) arm of chromosome 15 at position 22.31
  • MDFPMR
  • p532
  • p619