InnateDB Protein
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IDBP-362176.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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UBE3A
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Protein Name
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ubiquitin protein ligase E3A
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Synonyms
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ANCR; AS; E6-AP; EPVE6AP; HPVE6A;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000401265
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InnateDB Gene
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IDBG-4274 (UBE3A)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus {ECO:0000305}.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
194
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
3 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000569
HECT
IPR017134
Ubiquitin-protein ligase E6-AP
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PFAM |
PF00632
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PRINTS |
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PIRSF |
PIRSF037201
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SMART |
SM00119
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TIGRFAMs |
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Modification |
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SwissProt |
Q05086
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PhosphoSite |
PhosphoSite-Q05086
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TrEMBL |
Q9UBN9
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UniProt Splice Variant |
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Entrez Gene |
7337
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UniGene |
Hs.738053
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RefSeq |
XP_005268324
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HUGO |
HGNC:12496
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OMIM |
601623
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CCDS |
CCDS32177
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HPRD |
03375
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IMGT |
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EMBL |
AC100774
AC124997
AF016703
AF016704
AF016705
AF016706
AF016707
AF016708
AF273050
AH006486
AJ001107
AJ001108
AJ001109
AJ001110
AJ001111
AJ001112
AJ001113
AK291405
AK292514
BC009271
CH471151
L07557
U84404
X98021
X98022
X98023
X98024
X98025
X98026
X98027
X98028
X98029
X98030
X98031
X98032
X98033
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GenPept |
AAA35542
AAB49301
AAB69154
AAC39580
AAG34910
AAH09271
BAF84094
BAF85203
CAA04534
CAA04535
CAA04536
CAA04537
CAA04538
CAA04539
CAA04540
CAA66653
CAA66654
CAA66655
CAA66656
EAW57643
EAW57644
EAW57645
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