Aliases for HERC1 Gene
- HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member 1 2 3 5
- P532 2 3 4
- P619 2 3 4
- Hect (Homologous To The E6-AP (UBE3A) Carboxyl Terminus) Domain And RCC1 (CHC1)-Like Domain (RLD) 1 2 3
- HECT Domain And RCC1-Like Domain-Containing Protein 1 3 4
- Probable E3 Ubiquitin-Protein Ligase HERC1 3 4
External Ids for HERC1 Gene
Previous GeneCards Identifiers for HERC1 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]
GeneCards Summary for HERC1 Gene
HERC1 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member 1) is a Protein Coding gene. Diseases associated with HERC1 include Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation and Autoimmune Lymphoproliferative Syndrome, Type Iii. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include binding and ubiquitin-protein transferase activity. An important paralog of this gene is ALS2.
UniProtKB/Swiss-Prot Summary for HERC1 Gene
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.