UBE2A

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

UBE2A
Identifiers
AliasesUBE2A, HHR6A, MRXS30, MRXSN, RAD6A, UBC2, ubiquitin conjugating enzyme E2 A
External IDsOMIM: 312180 MGI: 102959 HomoloGene: 68308 GeneCards: UBE2A
Orthologs
SpeciesHumanMouse
Entrez

7319

22209

Ensembl

ENSG00000077721

ENSMUSG00000016308

UniProt

P49459

Q9Z255

RefSeq (mRNA)

NM_181777
NM_001282161
NM_003336
NM_181762

NM_019668
NM_001313696

RefSeq (protein)

NP_001269090
NP_003327
NP_861427

NP_001300625
NP_062642

Location (UCSC)Chr X: 119.47 – 119.59 MbChr X: 36.14 – 36.15 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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] and P53.[9]

Clinical

Mutations in this gene have been associated with X-linked intellectual disability type Nascimento,[10] also known as Nascimento syndrome.[11] This syndrome is characterized by moderate to severe intellectual disability, dysmorphic facial features, seizures, speech impairment, motor delay, micropenis, and skin abnormalities.[10]

References

  1. GRCh38: Ensembl release 89: ENSG00000077721 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000016308 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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. "Entrez Gene: UBE2A ubiquitin-conjugating enzyme E2A (RAD6 homolog)".
  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. 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. 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.
  10. 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.
  11. "Gene linked to severe learning disabilities governs cell stress response". ScienceDaily. 27 May 2022. Retrieved 9 September 2022.

Further reading

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