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] Band Xq24 Start 119,474,802 bp[1] End 119,591,083 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X A3.3 Start 36,137,553 bp[2] End 36,147,875 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell placenta rectum gastrocnemius muscle right ventricle optic nerve left ventricle monocyte palpebral conjunctiva smooth muscle tissue Top expressed in endocardial cushion atrium atrioventricular valve medial ganglionic eminence parotid gland dermis triceps brachii muscle epithelium of stomach abdominal wall left lung lobe More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity nucleotide binding ubiquitin protein ligase activity ubiquitin-protein transferase activity protein binding ATP binding ubiquitin binding ubiquitin protein ligase binding ubiquitin conjugating enzyme activity Cellular component cytoplasm cytosol HULC complex nucleoplasm 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 population 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 Species Human Mouse 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 Mb Chr X: 36.14 – 36.15 Mb PubMed search [3] [4]
Wikidata
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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] 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

Further reading

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