Version 5.4
Homo sapiens Gene: UBE3A
Summary
InnateDB Gene IDBG-4274.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol UBE3A
Gene Name ubiquitin protein ligase E3A
Synonyms ANCR; AS; E6-AP; EPVE6AP; HPVE6A
Species Homo sapiens
Ensembl Gene ENSG00000114062
Encoded Proteins
IDBP-4276
ubiquitin protein ligase E3A
IDBP-234208
ubiquitin protein ligase E3A
IDBP-362175
ubiquitin protein ligase E3A
IDBP-362176
ubiquitin protein ligase E3A
IDBP-744689
IDBP-812077
ubiquitin protein ligase E3A
IDBP-812081
ubiquitin protein ligase E3A
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:25333729-25439028
Strand Reverse strand
Band q11.2
Transcripts
ENST00000232165 ENSP00000232165
ENST00000397954 ENSP00000381045
ENST00000438097 ENSP00000411258
ENST00000428984 ENSP00000401265
ENST00000566215 ENSP00000457771
ENST00000614096 ENSP00000481796
ENST00000604860 ENSP00000473822
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:0003713 transcription coactivator activity
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0016874 ligase activity
Biological Process
GO:0001541 ovarian follicle development
GO:0006508 proteolysis
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0007420 brain development
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling
GO:0016032 viral process
GO:0016567 protein ubiquitination
GO:0030521 androgen receptor signaling pathway
GO:0035037 sperm entry
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051865 protein autoubiquitination
GO:0060736 prostate gland growth
GO:0070936 protein K48-linked ubiquitination
Cellular Component
GO:0000502 proteasome complex
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000025326
View Gene Order
ENSBTAG00000002487
Not yet available
Pathways
NETPATH
NetPath_2
AndrogenReceptor pathway
REACTOME
REACT_75842
Antigen processing: Ubiquitination & Proteasome degradation pathway
REACT_75774
Adaptive Immune System pathway
REACT_6900
Immune System pathway
REACT_75820
Class I MHC mediated antigen processing & presentation pathway
KEGG
hsa04120
Ubiquitin mediated proteolysis pathway
INOH
INOH website
Tryptophan degradation pathway
PID NCI
ar_pathway
Coregulation of Androgen receptor activity
telomerasepathway
Regulation of Telomerase
Cross-References
SwissProt
TrEMBL Q96GR7 Q9H2G0 Q9UBN9
UniProt Splice Variant
Entrez Gene 7337
UniGene
RefSeq NM_130839 XM_006720673 XM_006720674 NM_000462 NM_130838
HUGO HGNC:12496
OMIM 601623
CCDS CCDS45191 CCDS32177 CCDS45192
HPRD
IMGT
EMBL AF273050 AH006486 AJ001113 AK291405 BC009271 CH471151
GenPept AAC39580 AAG34910 AAH09271 BAF84094 CAA04540 EAW57643 EAW57644
RNA Seq Atlas 7337

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