UBE2A

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 cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Description

Ubiquitin conjugating enzyme E2 A

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Vesicles, Plasma membrane, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (119574536 - 119591083)

Ensembl ID

ENSG00000077721  (ver. 103.38)

Orthologs

Mouse Ube2a: ENSMUSG00000016308

UniProt

P49459

neXtProt

NX_P49459

Human splice variants
Mouse splice variants

Protein structure