Human Gene UBE2A (ENST00000371558.7) from GENCODE V44
Description: Homo sapiens ubiquitin conjugating enzyme E2 A (UBE2A), transcript variant 1, mRNA. (from RefSeq NM_003336) 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]. Gencode Transcript: ENST00000371558.7 Gencode Gene: ENSG00000077721.17 Transcript (Including UTRs) Position: hg38 chrX:119,574,563-119,584,423 Size: 9,861 Total Exon Count: 6 Strand: + Coding Region Position: hg38 chrX:119,574,712-119,583,255 Size: 8,544 Coding Exon Count: 6
ID:UBE2A_HUMAN DESCRIPTION: RecName: Full=Ubiquitin-conjugating enzyme E2 A; EC=6.3.2.19; 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.
Biological Process: GO:0000209 protein polyubiquitination GO:0001701 in utero embryonic development GO:0006281 DNA repair GO:0006301 postreplication repair GO:0006325 chromatin organization GO:0006511 ubiquitin-dependent protein catabolic process GO:0006974 cellular response to DNA damage stimulus GO:0008284 positive regulation of cell proliferation GO:0009411 response to UV GO:0016567 protein ubiquitination GO:0033522 histone H2A ubiquitination GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0051865 protein autoubiquitination GO:0060135 maternal process involved in female pregnancy GO:0070936 protein K48-linked ubiquitination GO:0070979 protein K11-linked ubiquitination
AK301675 - Homo sapiens cDNA FLJ51703 complete cds, highly similar to Ubiquitin-conjugating enzyme E2 A (EC 6.3.2.19). D28459 - Homo sapiens mRNA for ubiquitin-conjugating enzyme E2-17kDa, 5'UTR region. AK313092 - Homo sapiens cDNA, FLJ93575, highly similar to Homo sapiens ubiquitin-conjugating enzyme E2A (RAD6 homolog) (UBE2A), mRNA. AK297696 - Homo sapiens cDNA FLJ50812 complete cds, highly similar to Homo sapiens ubiquitin-conjugating enzyme E2A (UBE2A), transcript variant 2, mRNA. AK223045 - Homo sapiens mRNA for ubiquitin-conjugating enzyme E2A isoform 1 variant, clone: JTH14565. AK223064 - Homo sapiens mRNA for ubiquitin-conjugating enzyme E2A isoform 1 variant, clone: KAT01535. BC010175 - Homo sapiens ubiquitin-conjugating enzyme E2A (RAD6 homolog), mRNA (cDNA clone MGC:20175 IMAGE:3051041), complete cds. M74524 - Human HHR6A (yeast RAD 6 homologue) mRNA, complete cds. JD253741 - Sequence 234765 from Patent EP1572962. JD273533 - Sequence 254557 from Patent EP1572962. JD273534 - Sequence 254558 from Patent EP1572962. JD193479 - Sequence 174503 from Patent EP1572962. JD190586 - Sequence 171610 from Patent EP1572962. JD460599 - Sequence 441623 from Patent EP1572962. AB590387 - Synthetic construct DNA, clone: pFN21AE1357, Homo sapiens UBE2A gene for ubiquitin-conjugating enzyme E2A, without stop codon, in Flexi system. DQ893386 - Synthetic construct clone IMAGE:100006016; FLH199458.01X; RZPDo839B0282D ubiquitin-conjugating enzyme E2A (RAD6 homolog) (UBE2A) gene, encodes complete protein. DQ896706 - Synthetic construct Homo sapiens clone IMAGE:100011166; FLH199364.01L; RZPDo839B0281D ubiquitin-conjugating enzyme E2A (RAD6 homolog) (UBE2A) gene, encodes complete protein. KJ904582 - Synthetic construct Homo sapiens clone ccsbBroadEn_13976 UBE2A gene, encodes complete protein. BC042021 - Homo sapiens cDNA clone IMAGE:5312200. JD235183 - Sequence 216207 from Patent EP1572962. JD551154 - Sequence 532178 from Patent EP1572962. JD246457 - Sequence 227481 from Patent EP1572962. JD297789 - Sequence 278813 from Patent EP1572962. JD530430 - Sequence 511454 from Patent EP1572962. JD475776 - Sequence 456800 from Patent EP1572962. JD208350 - Sequence 189374 from Patent EP1572962. JD514361 - Sequence 495385 from Patent EP1572962. JD272299 - Sequence 253323 from Patent EP1572962. JD314784 - Sequence 295808 from Patent EP1572962. JD502069 - Sequence 483093 from Patent EP1572962. JD412217 - Sequence 393241 from Patent EP1572962. JD156607 - Sequence 137631 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04120 - Ubiquitin mediated proteolysis
BioCyc Knowledge Library PWY-7511 - protein ubiquitination
Reactome (by CSHL, EBI, and GO)
Protein P49459 (Reactome details) participates in the following event(s):
R-HSA-983152 Transfer of ubiquitin from E1 to E2 R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2 R-HSA-8852130 UBA1 conjugates ubiquitin to nuclear E2 enzymes R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex R-HSA-8942099 RNF20:RNF40 binds PAF complex, Ubiquitin:UBE2A,B (Ubiquitin:RAD6), WAC and Histone H2B R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation R-HSA-8866652 Synthesis of active ubiquitin: roles of E1 and E2 enzymes R-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins R-HSA-983169 Class I MHC mediated antigen processing & presentation R-HSA-8852135 Protein ubiquitination R-HSA-1280218 Adaptive Immune System R-HSA-597592 Post-translational protein modification R-HSA-168256 Immune System R-HSA-392499 Metabolism of proteins
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