ID:G2E3_HUMAN DESCRIPTION: RecName: Full=G2/M phase-specific E3 ubiquitin-protein ligase; EC=6.3.2.-; FUNCTION: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Essential in early embryonic development to prevent apoptotic death. PATHWAY: Protein modification; protein ubiquitination. SUBCELLULAR LOCATION: Nucleus, nucleolus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm. In the nucleus, delocalizes from the nucleolus to the nucleoplasm in response to DNA damage. TISSUE SPECIFICITY: Predominantly expressed in brain, liver, kidney, testes and ovary. INDUCTION: Up-regulated approximately 4-fold in G2 when compared to S phase. Down-regulated approximately 3-fold by gamma- irradiation. DOMAIN: Ubiquitin ligase activity is mediated by two distinct domains, PHD-type zinc fingers 2 and 3. The use of these distinct domains may allow ubiquitination of different targets by each domain. The HECT domain is catalytically inactive and does not contribute to this activity. SIMILARITY: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain. SIMILARITY: Contains 3 PHD-type zinc fingers. SEQUENCE CAUTION: Sequence=BAA92571.1; Type=Erroneous initiation; Sequence=BAB14280.1; Type=Erroneous initiation;
Echocardiography Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903301]
In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
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 Q7L622
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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.