InnateDB Protein
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IDBP-83745.7
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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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UBE2A
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Protein Name
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ubiquitin-conjugating enzyme E2A
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Synonyms
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HHR6A; MRXS30; MRXSN; RAD6A; UBC2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000335027
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InnateDB Gene
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IDBG-83741 (UBE2A)
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Protein Structure
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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}.
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Subcellular Localization |
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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.
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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 55 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
55
[view]
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Protein-Protein |
55
[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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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 |
IPR000608
Ubiquitin-conjugating enzyme, E2
IPR016135
Ubiquitin-conjugating enzyme/RWD-like
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PFAM |
PF00179
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P49459
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PhosphoSite |
PhosphoSite-P49459
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
7319
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UniGene |
Hs.379466
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RefSeq |
NP_861427
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HUGO |
HGNC:12472
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OMIM |
312180
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CCDS |
CCDS14581
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HPRD |
02422
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IMGT |
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EMBL |
AC004913
AK297696
AK313092
BC010175
CH471161
DQ068065
M74524
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GenPept |
AAA35981
AAH10175
AAY46159
BAG35916
BAG60054
EAW89861
EAW89862
EAW89863
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