UBE2A

UBE2A
Identifiers
Aliases	UBE2A, HHR6A, MRXS30, MRXSN, RAD6A, UBC2, ubiquitin conjugating enzyme E2 A
External IDs	OMIM: 312180 MGI: 102959 HomoloGene: 68308 GeneCards: UBE2A
Gene location (Human)
Chr.	X chromosome (human)[1]
End	119,591,083 bp[1]
Gene location (Mouse)
Chr.	X chromosome (mouse)[2]
End	36,884,222 bp[2]
RNA expression pattern
	; ;
	More reference expression data
Gene ontology
Molecular function	• transferase activity; • nucleotide binding; • GO:1904264, GO:1904822 ubiquitin protein ligase activity; • ubiquitin-protein transferase activity; • GO:0001948 protein binding; • ATP binding; • ubiquitin binding; • ubiquitin protein ligase binding; • ubiquitin conjugating enzyme activity;
Cellular component	• cytoplasm; • cytosol; • HULC complex; • nucleoplasm; • chromatin; • nuclear chromatin; • XY body;
Biological process	• histone H2A ubiquitination; • postreplication repair; • ubiquitin-dependent protein catabolic process; • protein polyubiquitination; • cellular response to DNA damage stimulus; • protein K11-linked ubiquitination; • protein K48-linked ubiquitination; • positive regulation of cell proliferation; • response to UV; • DNA repair; • proteasome-mediated ubiquitin-dependent protein catabolic process; • protein autoubiquitination; • protein ubiquitination; • in utero embryonic development; • maternal process involved in female pregnancy; • chromatin organization; • blastocyst hatching;
	Sources:Amigo / QuickGO
Orthologs
	7319
	22209
	ENSG00000077721
	ENSMUSG00000016308
	P49459
	Q9Z255
	NM_181777; NM_001282161; NM_003336; NM_181762
	NM_019668; NM_001313696
	NP_001269090; NP_003327; NP_861427
	NP_001300625; NP_062642
	Wikidata
View/Edit Human	View/Edit Mouse

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]

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. This syndrome is characterized by moderate to severe intellectual disability, dysmorphic facial features, speech impairment, genital anomalies and skin abnormalities.

References

GRCh38: Ensembl release 89: ENSG00000077721 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000016308 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Koken MH, Smit EM, Jaspers-Dekker I, Oostra BA, Hagemeijer A, Bootsma D, Hoeijmakers JH (May 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): 447–53. doi:10.1016/0888-7543(92)90433-S. hdl:1765/3036. PMID 1559696.
"Entrez Gene: UBE2A ubiquitin-conjugating enzyme E2A (RAD6 homolog)".
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 Res. 28 (14): 2847–54. doi:10.1093/nar/28.14.2847. PMC 102657. PMID 10908344.
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". Proc. Natl. Acad. Sci. U.S.A. 97 (14): 7927–32. Bibcode:2000PNAS...97.7927T. doi:10.1073/pnas.97.14.7927. ISSN 0027-8424. PMC 16647. PMID 10884424.
Lyakhovich, Alex; Shekhar Malathy P V (April 2003). "Supramolecular complex formation between Rad6 and proteins of the p53 pathway during DNA damage-induced response". Mol. Cell. Biol. 23 (7): 2463–75. doi:10.1128/MCB.23.7.2463-2475.2003. ISSN 0270-7306. PMC 150718. PMID 12640129.

Koken MH, Reynolds P, Jaspers-Dekker I, et al. (1991). "Structural and functional conservation of two human homologs of the yeast DNA repair gene RAD6". Proc. Natl. Acad. Sci. U.S.A. 88 (20): 8865–9. Bibcode:1991PNAS...88.8865K. doi:10.1073/pnas.88.20.8865. PMC 52611. PMID 1717990.
Kato S, Sekine S, Oh SW, et al. (1995). "Construction of a human full-length cDNA bank". Gene. 150 (2): 243–50. doi:10.1016/0378-1119(94)90433-2. PMID 7821789.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Tateishi S, Sakuraba Y, Masuyama S, et al. (2000). "Dysfunction of human Rad18 results in defective postreplication repair and hypersensitivity to multiple mutagens". Proc. Natl. Acad. Sci. U.S.A. 97 (14): 7927–32. Bibcode:2000PNAS...97.7927T. doi:10.1073/pnas.97.14.7927. PMC 16647. PMID 10884424.
Xin H, Lin W, Sumanasekera W, et al. (2000). "The human RAD18 gene product interacts with HHR6A and HHR6B". Nucleic Acids Res. 28 (14): 2847–54. doi:10.1093/nar/28.14.2847. PMC 102657. PMID 10908344.
Miura T, Klaus W, Ross A, et al. (2003). "The NMR structure of the class I human ubiquitin-conjugating enzyme 2b". J. Biomol. NMR. 22 (1): 89–92. doi:10.1023/A:1013807519703. PMID 11885984.
Shekhar MP, Lyakhovich A, Visscher DW, et al. (2002). "Rad6 overexpression induces multinucleation, centrosome amplification, abnormal mitosis, aneuploidy, and transformation". Cancer Res. 62 (7): 2115–24. PMID 11929833.
Sarcevic B, Mawson A, Baker RT, Sutherland RL (2002). "Regulation of the ubiquitin-conjugating enzyme hHR6A by CDK-mediated phosphorylation". EMBO J. 21 (8): 2009–18. doi:10.1093/emboj/21.8.2009. PMC 125963. PMID 11953320.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Suzumori N, Burns KH, Yan W, Matzuk MM (2003). "RFPL4 interacts with oocyte proteins of the ubiquitin-proteasome degradation pathway". Proc. Natl. Acad. Sci. U.S.A. 100 (2): 550–5. Bibcode:2003PNAS..100..550S. doi:10.1073/pnas.0234474100. PMC 141033. PMID 12525704.
Lyakhovich A, Shekhar MP (2003). "Supramolecular complex formation between Rad6 and proteins of the p53 pathway during DNA damage-induced response". Mol. Cell. Biol. 23 (7): 2463–75. doi:10.1128/MCB.23.7.2463-2475.2003. PMC 150718. PMID 12640129.
Kunapuli P, Somerville R, Still IH, Cowell JK (2003). "ZNF198 protein, involved in rearrangement in myeloproliferative disease, forms complexes with the DNA repair-associated HHR6A/6B and RAD18 proteins". Oncogene. 22 (22): 3417–23. doi:10.1038/sj.onc.1206408. PMID 12776193.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514.
Nascimento RM, Otto PA, de Brouwer AP, Vianna-Morgante AM (2006). "UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome". Am. J. Hum. Genet. 79 (3): 549–55. doi:10.1086/507047. PMC 1559544. PMID 16909393.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000077721 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid1559696-5] Koken MH, Smit EM, Jaspers-Dekker I, Oostra BA, Hagemeijer A, Bootsma D, Hoeijmakers JH (May 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): 447–53. doi:10.1016/0888-7543(92)90433-S. hdl:1765/3036. PMID 1559696.

[entrez-6] "Entrez Gene: UBE2A ubiquitin-conjugating enzyme E2A (RAD6 homolog)".

[pmid10908344-7] 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 Res. 28 (14): 2847–54. doi:10.1093/nar/28.14.2847. PMC 102657. PMID 10908344.

[pmid10884424-8] 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". Proc. Natl. Acad. Sci. U.S.A. 97 (14): 7927–32. Bibcode:2000PNAS...97.7927T. doi:10.1073/pnas.97.14.7927. ISSN 0027-8424. PMC 16647. PMID 10884424.

[pmid12640129-9] Lyakhovich, Alex; Shekhar Malathy P V (April 2003). "Supramolecular complex formation between Rad6 and proteins of the p53 pathway during DNA damage-induced response". Mol. Cell. Biol. 23 (7): 2463–75. doi:10.1128/MCB.23.7.2463-2475.2003. ISSN 0270-7306. PMC 150718. PMID 12640129.

UBE2A

Interactions

Clinical

References

Further reading