ID:EVC_HUMAN DESCRIPTION: RecName: Full=Ellis-van Creveld syndrome protein; AltName: Full=DWF-1; FUNCTION: Acts as a positive mediator of Hedgehog signaling indispensable for normal endochondral growth and skeletal development (By similarity). SUBUNIT: Interacts with EVC2 (By similarity). SUBCELLULAR LOCATION: Cell membrane; Single-pass membrane protein (By similarity). Cytoplasm, cytoskeleton, cilium basal body (By similarity). Cell projection, cilium (By similarity). Cell projection, cilium membrane (By similarity). Note=EVC2 is required for the localization of EVC at the base of primary cilia (By similarity). TISSUE SPECIFICITY: Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung. DISEASE: Defects in EVC are a cause of Ellis-van Creveld syndrome (EVC) [MIM:225500]; also known as chondroectodermal dysplasia. EVC is an autosomal recessive disorder characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals. DISEASE: Defects in EVC are a cause of acrofacial dysostosis Weyers type (WAD) [MIM:193530]; also known as Curry-Hall syndrome. Acrofacial dysostoses are a heterogeneous group of disorders combining limb defects with facial abnormalities. WAD is an autosomal dominant disorder characterized by dysplastic nails, postaxial polydactyly, acrofacial dysostosis, short limbs and short stature. The phenotype is milder than Ellis-van Creveld syndrome. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EVC";
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 P57679
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Biological Process: GO:0001501 skeletal system development GO:0003416 endochondral bone growth GO:0007224 smoothened signaling pathway GO:0007517 muscle organ development GO:0045880 positive regulation of smoothened signaling pathway GO:0051216 cartilage development
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