Homo sapiens Gene: UBE2A
Summary
InnateDB Gene IDBG-83741.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol UBE2A
Gene Name ubiquitin-conjugating enzyme E2A
Synonyms HHR6A; MRXS30; MRXSN; RAD6A; UBC2
Species Homo sapiens
Ensembl Gene ENSG00000077721
Encoded Proteins
ubiquitin-conjugating enzyme E2A
ubiquitin-conjugating enzyme E2A
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair. Multiple alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms. [provided by RefSeq, Jul 2008]
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair, and may play a role in transcriptional regulation. Mutations in this gene are associated with mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome X:119574538-119584418
Strand Forward strand
Band q24
Transcripts
ENST00000371569
ENST00000346330 ENSP00000335027
ENST00000371558 ENSP00000360613
ENST00000469205
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:0001701 in utero embryonic development
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:0060135 maternal process involved in female pregnancy
GO:0070936 protein K48-linked ubiquitination
GO:0070979 protein K11-linked ubiquitination
Cellular Component
GO:0000785 chromatin
GO:0000790 nuclear chromatin
GO:0001741 XY body
GO:0005829 cytosol
GO:0033503 HULC complex
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Pathways
NETPATH
REACTOME
Antigen processing: Ubiquitination & Proteasome degradation pathway
Adaptive Immune System pathway
Immune System pathway
Class I MHC mediated antigen processing & presentation pathway
KEGG
Ubiquitin mediated proteolysis pathway
INOH
PID NCI
Cross-References
SwissProt P49459
TrEMBL
UniProt Splice Variant
Entrez Gene 7319
UniGene Hs.379466
RefSeq NM_181762 NM_001282161 NM_003336
HUGO HGNC:12472
OMIM 312180
CCDS CCDS14581 CCDS14580
HPRD 02422
IMGT
EMBL AC004913 AK297696 AK313092 BC010175 CH471161 DQ068065 M74524
GenPept AAA35981 AAH10175 AAY46159 BAG35916 BAG60054 EAW89861 EAW89862 EAW89863
RNA Seq Atlas 7319