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MGP006223

UniProt Annotations

Entry Information
Gene Nameubiquitin protein ligase E3B
Protein EntryUBE3B_HUMAN
UniProt IDQ7Z3V4
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; Synonyms=UBE3B_v1; IsoId=Q7Z3V4-1; Sequence=Displayed; Note=Major isoform.; Name=2; Synonyms=UBE3B_v2; IsoId=Q7Z3V4-2; Sequence=VSP_024087, VSP_024088; Name=3; IsoId=Q7Z3V4-3; Sequence=VSP_024085, VSP_024086; Note=No experimental confirmation available.;
DiseaseBlepharophimosis-ptosis-intellectual disability syndrome (BPIDS) [MIM:615057]: A disorder characterized by blepharophimosis, ptosis, mild upslanting of the palpebral fissures, epicanthus, ectodermal anomalies, developmental delay, and severe intellectual disability with absent speech. Proportionate growth retardation with a small head circumference/microcephaly, congenital malformations, muscular hypotonia, anomalies on brain imaging with hypoplasia of the corpus callosum, and low cholesterol levels are variably present. {ECO:0000269|PubMed:23200864}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionE3 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. {ECO:0000250}.
PathwayProtein modification; protein ubiquitination.
SimilarityContains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain. {ECO:0000255|PROSITE-ProRule:PRU00104}.
SimilarityContains 1 IQ domain. {ECO:0000255|PROSITE- ProRule:PRU00116}.
Tissue SpecificityWidely expressed. {ECO:0000269|PubMed:12837265}.
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