Version 5.4
Homo sapiens Protein: UBE3B
Summary
InnateDB Protein IDBP-598798.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol UBE3B
Protein Name ubiquitin protein ligase E3B
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000443565
InnateDB Gene IDBG-56108 (UBE3B)
Protein Structure
UniProt Annotation
Function 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. {ECO:0000250}.
Subcellular Localization
Disease Associations Blepharophimosis-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:0000269PubMed:23200864}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed. {ECO:0000269PubMed:12837265}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0016874 ligase activity
Biological Process
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR000048 IQ motif, EF-hand binding site
IPR027417 P-loop containing nucleoside triphosphate hydrolase
PFAM PF00612
PRINTS
PIRSF
SMART SM00015
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q7Z3V4
PhosphoSite PhosphoSite-Q7Z3V4
TrEMBL
UniProt Splice Variant
Entrez Gene 89910
UniGene Hs.606582
RefSeq
HUGO HGNC:13478
OMIM 608047
CCDS CCDS58277
HPRD 06993
IMGT
EMBL AC007570 AF251046 AL096740 BC032301 BC051266 BC068221 BC108705 BC141880 BX537403
GenPept AAH32301 AAH51266 AAH68221 AAI08706 AAI41881 AAK28419 CAD97645 CAH56410

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca