Aliases for HERC4 Gene
External Ids for HERC4 Gene
Previous GeneCards Identifiers for HERC4 Gene
HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]
GeneCards Summary for HERC4 Gene
HERC4 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 4) is a Protein Coding gene. Diseases associated with HERC4 include Osteonecrosis Of The Jaw and Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is ENSG00000287542.
UniProtKB/Swiss-Prot Summary for HERC4 Gene
Probable E3 ubiquitin-protein ligase involved in either protein trafficking or in the distribution of cellular structures. Required for spermatozoon maturation and fertility, and for the removal of the cytoplasmic droplet of the spermatozoon. E3 ubiquitin-protein ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer it to targeted substrates.