InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: UBE3A

Summary

InnateDB Protein

IDBP-744689.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

UBE3A

Protein Name

Synonyms

ANCR; AS; E6-AP; EPVE6AP; HPVE6A;

Species

Homo sapiens

Ensembl Protein

ENSP00000457771

InnateDB Gene

IDBG-4274 (UBE3A)

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 transfers it to its substrates. Several substrates have been identified including the RAD23A and RAD23B, MCM7 (which is involved in DNA replication), annexin A1, the PML tumor suppressor, and the cell cycle regulator CDKN1B. Catalyzes the high-risk human papilloma virus E6-mediated ubiquitination of p53/TP53, contributing to the neoplastic progression of cells infected by these viruses. Additionally, may function as a cellular quality control ubiquitin ligase by helping the degradation of the cytoplasmic misfolded proteins. Finally, UBE3A also promotes its own degradation in vivo. {ECO:0000269PubMed:10373495, ECO:0000269PubMed:19204938, ECO:0000269PubMed:19233847, ECO:0000269PubMed:19325566, ECO:0000269PubMed:19591933, ECO:0000269PubMed:22645313}.

Subcellular Localization

Nucleus {ECO:0000305}.

Disease Associations

Angelman syndrome (AS) [MIM:105830]: A neurodevelopmental disorder characterized by severe motor and intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open-mouthed expression revealing the tongue. {ECO:0000269PubMed:9585605}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 194 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	194 [view]
Protein-Protein	194 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004842	ubiquitin-protein transferase activity
GO:0005515	protein binding
GO:0016874	ligase activity

Biological Process

GO:0006508	proteolysis
GO:0006511	ubiquitin-dependent protein catabolic process
GO:0007420	brain development
GO:0016032	viral process
GO:0030521	androgen receptor signaling pathway
GO:0042787	protein ubiquitination involved in ubiquitin-dependent protein catabolic process
GO:0051865	protein autoubiquitination
GO:0070936	protein K48-linked ubiquitination