Homo sapiens Protein: UBE2A
Summary
InnateDB Protein IDBP-83745.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol UBE2A
Protein Name ubiquitin-conjugating enzyme E2A
Synonyms HHR6A; MRXS30; MRXSN; RAD6A; UBC2;
Species Homo sapiens
Ensembl Protein ENSP00000335027
InnateDB Gene IDBG-83741 (UBE2A)
Protein Structure
UniProt Annotation
Function Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In association with the E3 enzyme BRE1 (RNF20 and/or RNF40), it plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at 'Lys-120' to form H2BK120ub1. H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation. In vitro catalyzes 'Lys-11', as well as 'Lys-48'-linked polyubiquitination. Required for postreplication repair of UV-damaged DNA. {ECO:0000269PubMed:16337599, ECO:0000269PubMed:20061386}.
Subcellular Localization
Disease Associations Mental retardation, X-linked, syndromic, Nascimento-type (MRXSN) [MIM:300860]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSN features include dysmorphic facies, hirsutism, skin and nails abnormalities, obesity, speech anomalies and seizures. {ECO:0000269PubMed:16909393, ECO:0000269PubMed:20412111}. 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 55 experimentally validated interaction(s) in this database.
Experimentally validated
Total 55 [view]
Protein-Protein 55 [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:0005524 ATP binding
GO:0016881 acid-amino acid ligase activity
GO:0031625 ubiquitin protein ligase binding
Biological Process
GO:0000209 protein polyubiquitination
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I
GO:0006281 DNA repair
GO:0006301 postreplication repair
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0008284 positive regulation of cell proliferation
GO:0009411 response to UV
GO:0033522 histone H2A ubiquitination
GO:0051865 protein autoubiquitination
GO:0070936 protein K48-linked ubiquitination
GO:0070979 protein K11-linked ubiquitination
Cellular Component
GO:0000785 chromatin
GO:0005829 cytosol
GO:0033503 HULC complex
Protein Structure and Domains
PDB ID
InterPro IPR000608 Ubiquitin-conjugating enzyme, E2
IPR016135 Ubiquitin-conjugating enzyme/RWD-like
PFAM PF00179
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P49459
PhosphoSite PhosphoSite-P49459
TrEMBL
UniProt Splice Variant
Entrez Gene 7319
UniGene Hs.379466
RefSeq NP_861427
HUGO HGNC:12472
OMIM 312180
CCDS CCDS14581
HPRD 02422
IMGT
EMBL AC004913 AK297696 AK313092 BC010175 CH471161 DQ068065 M74524
GenPept AAA35981 AAH10175 AAY46159 BAG35916 BAG60054 EAW89861 EAW89862 EAW89863