Aliases for UBE3B Gene
External Ids for UBE3B Gene
Previous GeneCards Identifiers for UBE3B Gene
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: E1 ubiquitin-activating enzymes, E2 ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases. This gene encodes a member of the E3 ubiquitin-conjugating enzyme family which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and transfers the ubiquitin to the targeted substrates. A HECT (homology to E6-AP C-terminus) domain in the C-terminus of the longer isoform of this protein is the catalytic site of ubiquitin transfer and forms a complex with E2 conjugases. Shorter isoforms of this protein which lack the C-terminal HECT domain are therefore unlikely to bind E2 enzymes. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2012]
GeneCards Summary for UBE3B Gene
UBE3B (Ubiquitin Protein Ligase E3B) is a Protein Coding gene. Diseases associated with UBE3B include Kaufman Oculocerebrofacial Syndrome and Blepharophimosis-Intellectual Disability Syndrome Due To Ube3b Deficiency. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is UBE3C.
UniProtKB/Swiss-Prot for UBE3B Gene
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.