Mus musculus Protein: Evc
Summary
InnateDB Protein IDBP-158982.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Evc
Protein Name Ellis van Creveld gene homolog (human)
Synonyms
Species Mus musculus
Ensembl Protein ENSMUSP00000031005
InnateDB Gene IDBG-158980 (Evc)
Protein Structure
UniProt Annotation
Function Acts as a positive mediator of Hedgehog signaling indispensable for normal endochondral growth and skeletal development. {ECO:0000269PubMed:17660199}.
Subcellular Localization Cell membrane; Single-pass membrane protein. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Cell projection, cilium membrane. Note=EVC2 is required for the localization of EVC at the base of primary cilia.
Disease Associations
Tissue Specificity Expressed in the developing skeleton and the orofacial region. Expression is general to all the cartilaginous components of the skeleton, including the chondrocranium, the vertebrae, the rib cage, and the axial skeleton by day E15.5. {ECO:0000269PubMed:17660199}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0003416 endochondral bone growth
GO:0007224 smoothened signaling pathway
GO:0045880 positive regulation of smoothened signaling pathway
GO:0051216 cartilage development
Cellular Component
GO:0005737 cytoplasm
GO:0005929 cilium
GO:0016021 integral component of membrane
GO:0036064 ciliary basal body
GO:0060170 ciliary membrane
Protein Structure and Domains
PDB ID MGI:1890596
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P57680
PhosphoSite PhosphoSite-
TrEMBL L7P9J5
UniProt Splice Variant
Entrez Gene 59056
UniGene Mm.479678
RefSeq NP_067267
MGI ID
MGI Symbol Evc
OMIM
CCDS CCDS19247
HPRD
IMGT
EMBL AC111129 AJ250841 JQ599253
GenPept AFQ98281 CAB76567 CAB76568