Human Gene UBE2A (uc004erl.3) Description and Page Index
Description: Homo sapiens ubiquitin-conjugating enzyme E2A (UBE2A), transcript variant 1, mRNA. RefSeq Summary (NM_003336): 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, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair, and may play a role in transcriptional regulation. Mutations in this gene are associated with cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. Transcript (Including UTRs) Position: hg19 chrX:118,708,499-118,718,379 Size: 9,881 Total Exon Count: 6 Strand: + Coding Region Position: hg19 chrX:118,708,675-118,717,218 Size: 8,544 Coding Exon Count: 6
ID:UBE2A_HUMAN DESCRIPTION: RecName: Full=Ubiquitin-conjugating enzyme E2 A; EC=184.108.40.206; AltName: Full=RAD6 homolog A; Short=HR6A; Short=hHR6A; AltName: Full=Ubiquitin carrier protein A; AltName: Full=Ubiquitin-protein ligase A; FUNCTION: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In association with the E3 enzyme BRE1 (RNF20 and/or RNF40), it plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at 'Lys-120' to form H2BK120ub1. H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation. In vitro catalyzes 'Lys-11', as well as 'Lys-48'-linked polyubiquitination. Required for postreplication repair of UV-damaged DNA. CATALYTIC ACTIVITY: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine. PATHWAY: Protein modification; protein ubiquitination. SUBUNIT: Interacts with RAD18 and WAC. DISEASE: Defects in UBE2A are the cause of mental retardation syndromic X-linked Nascimento-type (MRXSN) [MIM:300860]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXSN features include dysmorphic facies, hirsutism, skin and nails abnormalities, obesity, speech anomalies and seizures. SIMILARITY: Belongs to the ubiquitin-conjugating enzyme family. WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ube2a/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P49459
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.