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
ubiquitin protein ligase E3A
ubiquitin protein ligase E3A
ubiquitin protein ligase E3A
ubiquitin protein ligase E3A
ubiquitin protein ligase E3A
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
AndrogenReceptor pathway
REACTOME
Adaptive Immune System pathway
Immune System pathway
Antigen processing: Ubiquitination & Proteasome degradation pathway
Class I MHC mediated antigen processing & presentation pathway
KEGG
Ubiquitin mediated proteolysis pathway
INOH
Tryptophan degradation pathway
PID BIOCARTA
Gamma-aminobutyric acid receptor life cycle pathway [Biocarta view]
Proteasome complex [Biocarta view]
Sumoylation as a mechanism to modulate ctbp-dependent gene responses [Biocarta view]
PID NCI
Coregulation of Androgen receptor activity
Regulation of Telomerase
Cross-References
SwissProt Q05086
TrEMBL Q96GR7 Q9H2G0 Q9UBN9
UniProt Splice Variant
Entrez Gene 7337
UniGene Hs.598862 Hs.600377 Hs.738053
RefSeq NM_130838 NM_000462 NM_130839 XM_006720673 XM_006720674
HUGO HGNC:12496
OMIM 601623
CCDS CCDS32177 CCDS45191 CCDS45192
HPRD 03375
IMGT
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
GenPept AAA35542 AAB49301 AAB69154 AAC39580 AAG34910 AAH09271 BAF84094 BAF85203 CAA04534 CAA04535 CAA04536 CAA04537 CAA04538 CAA04539 CAA04540 CAA66653 CAA66654 CAA66655 CAA66656 EAW57643 EAW57644 EAW57645
RNA Seq Atlas 7337