Human Gene UBE2E3 (uc010fri.1) Description and Page Index
Description: Homo sapiens ubiquitin-conjugating enzyme E2E 3 (UBE2E3), transcript variant 2, mRNA. RefSeq Summary (NM_182678): 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. The encoded protein shares 100% sequence identity with the mouse and rat counterparts, which indicates that this enzyme is highly conserved in eukaryotes. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2013]. Transcript (Including UTRs) Position: hg19 chr2:181,845,851-181,928,150 Size: 82,300 Total Exon Count: 6 Strand: + Coding Region Position: hg19 chr2:181,846,770-181,927,615 Size: 80,846 Coding Exon Count: 5
ID:UB2E3_HUMAN DESCRIPTION: RecName: Full=Ubiquitin-conjugating enzyme E2 E3; EC=18.104.22.168; AltName: Full=UbcH9; AltName: Full=Ubiquitin carrier protein E3; AltName: Full=Ubiquitin-conjugating enzyme E2-23 kDa; AltName: Full=Ubiquitin-protein ligase E3; FUNCTION: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys- 11'- and 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. Participates in the regulation of transepithelial sodium transport in renal cells. May be involved in cell growth arrest. CATALYTIC ACTIVITY: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine. PATHWAY: Protein modification; protein ubiquitination. SUBUNIT: The ubiquitin-loaded form interacts specifically with importin-11 (IPO11), leading to its import into the nucleus (By similarity). Interacts with NEDD4L. SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Shuttles between the nucleus and cytoplasm in a IPO11-dependent manner. TISSUE SPECIFICITY: Ubiquitously expressed at low levels. Highly expressed in skeletal muscle. SIMILARITY: Belongs to the ubiquitin-conjugating enzyme family.
Genetic Association Studies of Complex Diseases and Disorders
Celiac Disease Patrick C A Dubois et al. Nature genetics 2010, Multiple common variants for celiac disease influencing immune gene expression., Nature genetics.
Heart Function Tests Joshua C Denny et al. Circulation 2010, Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science., Circulation.
This genome-wide association study confirms a gene heretofore not implicated in cardiac pathophysiology as a modulator of PR interval in humans. This study is one of the first replication genome-wide association studies performed with the use of an electronic medical records-derived cohort, supporting their further use for genotype-phenotype analyses.
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 Q969T4
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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.