UBE2A

UBE2A

UBE2A

Protein-coding gene in the species Homo sapiens

Ubiquitin-conjugating enzyme E2 A is a protein that in humans is encoded by the UBE2A gene.[5][6]

Quick Facts Identifiers, Aliases ...

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]

Interactions

UBE2A has been shown to interact with RAD18,[7][8] UBR4[9] and P53.[10]

Clinical

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]

References

  1. [1]
    GRCh38: Ensembl release 89: ENSG00000077721 – Ensembl, May 2017
  2. [2]
    GRCm38: Ensembl release 89: ENSMUSG00000016308 – Ensembl, May 2017
  3. [3]
    "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. [4]
    "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. [5]
    Koken MH, Smit EM, Jaspers-Dekker I, Oostra BA, Hagemeijer A, Bootsma D, Hoeijmakers JH (March 1992). "Localization of two human homologs, HHR6A and HHR6B, of the yeast DNA repair gene RAD6 to chromosomes Xq24-q25 and 5q23-q31". Genomics. 12 (3): 447–453. doi:10.1016/0888-7543(92)90433-S. hdl:1765/3036. PMID 1559696.
  6. [6]
    "Entrez Gene: UBE2A ubiquitin-conjugating enzyme E2A (RAD6 homolog)".
  7. [7]
    Xin H, Lin W, Sumanasekera W, Zhang Y, Wu X, Wang Z (July 2000). "The human RAD18 gene product interacts with HHR6A and HHR6B". Nucleic Acids Research. 28 (14): 2847–2854. doi:10.1093/nar/28.14.2847. PMC 102657. PMID 10908344.
  8. [8]
    Tateishi S, Sakuraba Y, Masuyama S, Inoue H, Yamaizumi M (July 2000). "Dysfunction of human Rad18 results in defective postreplication repair and hypersensitivity to multiple mutagens". Proceedings of the National Academy of Sciences of the United States of America. 97 (14): 7927–7932. Bibcode:2000PNAS...97.7927T. doi:10.1073/pnas.97.14.7927. PMC 16647. PMID 10884424.
  9. [9]
    Barnsby-Greer L, Mabbitt PD, Dery MA, Squair DR, Wood NT, Lamoliatte F, Lange SM, Virdee S. UBE2A and UBE2B are recruited by an atypical E3 ligase module in UBR4. Nat Struct Mol Biol| doi: 10.1038/s41594-023-01192-4/
  10. [10]
    Lyakhovich A, Shekhar MP (April 2003). "Supramolecular complex formation between Rad6 and proteins of the p53 pathway during DNA damage-induced response". Molecular and Cellular Biology. 23 (7): 2463–2475. doi:10.1128/MCB.23.7.2463-2475.2003. PMC 150718. PMID 12640129.
  11. [11]
    Czeschik JC, Bauer P, Buiting K, Dufke C, Guillén-Navarro E, Johnson DS, et al. (September 2013). "X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity". Orphanet Journal of Rare Diseases. 8: 146. doi:10.1186/1750-1172-8-146. PMC 4015352. PMID 24053514.
  12. [12]
    "Gene linked to severe learning disabilities governs cell stress response". ScienceDaily. 27 May 2022. Retrieved 9 September 2022.

Further reading

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