Ubiquitin-conjugating enzyme E2 A is a protein that in humans is encoded by the UBE2A gene.[5][6]
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.[6]
UBE2A has been shown to interact with RAD18,[7][8] UBR4[9] and P53.[10]
Mutations in this gene have been associated with X-linked intellectual disability type Nascimento,[11] also known as Nascimento syndrome.[12] This syndrome is characterized by moderate to severe intellectual disability, dysmorphic facial features, seizures, speech impairment, motor delay, micropenis, and skin abnormalities.[11]
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PDB gallery
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1jas: HsUbc2b
1q34: Crystal structures of two UBC (E2) enzymes of the ubiquitin-conjugating system in Caenorhabditis elegans
1z3d: Protein crystal growth improvement leading to the 2.5A crystallographic structure of ubiquitin-conjugating enzyme (ubc-1) from Caenorhabditis elegans
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| Chaperones/ protein folding |
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| Protein targeting |
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| Ubiquitin (ubiquitylation) |
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| Ubiquitin-like proteins (UBL) |
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 | This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it. |
