ID:HECW1_HUMAN DESCRIPTION: RecName: Full=E3 ubiquitin-protein ligase HECW1; EC=6.3.2.-; AltName: Full=HECT, C2 and WW domain-containing protein 1; AltName: Full=NEDD4-like E3 ubiquitin-protein ligase 1; Short=hNEDL1; FUNCTION: E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent degradation of DVL1. Also targets the mutant SOD1 protein involved in familial amyotrophic lateral sclerosis (FALS). Forms cytotoxic aggregates with DVL1, SSR3 and mutant SOD1 that lead to motor neuron death in FALS. PATHWAY: Protein modification; protein ubiquitination. SUBUNIT: Interacts with DVL1 and SSR3. Also interacts with mutant SOD1. SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Predominantly expressed in neurons of adult and fetal brain. Weakly expressed in the kidney. SIMILARITY: Contains 1 C2 domain. SIMILARITY: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain. SIMILARITY: Contains 2 WW domains. SEQUENCE CAUTION: Sequence=BAA20780.2; Type=Erroneous initiation;
Blood Pressure Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics.
[PubMed 17903302]
These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these 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 Q76N89
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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:0016567 protein ubiquitination GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0090090 negative regulation of canonical Wnt signaling pathway
US Server
