Homo sapiens Protein: CDH15
Summary
InnateDB Protein IDBP-47216.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CDH15
Protein Name cadherin 15, type 1, M-cadherin (myotubule)
Synonyms CDH14; CDH3; CDHM; MCAD; MRD3;
Species Homo sapiens
Ensembl Protein ENSP00000289746
InnateDB Gene IDBG-47214 (CDH15)
Protein Structure
UniProt Annotation
Function Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. M-cadherin is part of the myogenic program and may provide a trigger for terminal muscle differentiation.
Subcellular Localization Cell membrane; Single-pass type I membrane protein.
Disease Associations Note=A chromosomal aberration involving CDH15 and KIRREL3 is found in a patient with severe mental retardation and dysmorphic facial features. Translocation t(11;16)(q24.2;q24).Mental retardation, autosomal dominant 3 (MRD3) [MIM:612580]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269PubMed:19012874}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in the brain and cerebellum. {ECO:0000269PubMed:19012874}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
GO:0005515 protein binding
Biological Process
GO:0007155 cell adhesion
GO:0007156 homophilic cell adhesion
GO:0034329 cell junction assembly
GO:0034332 adherens junction organization
GO:0042692 muscle cell differentiation
GO:0045216 cell-cell junction organization
GO:0051149 positive regulation of muscle cell differentiation
Cellular Component
GO:0005886 plasma membrane
GO:0005901 caveola
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031594 neuromuscular junction
Protein Structure and Domains
PDB ID
InterPro IPR000233 Cadherin, cytoplasmic domain
IPR002126 Cadherin
IPR015919 Cadherin-like
PFAM PF01049
PF00028
PRINTS PR00205
PIRSF
SMART SM00112
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P55291
PhosphoSite PhosphoSite-P55291
TrEMBL
UniProt Splice Variant
Entrez Gene 1013
UniGene Hs.148090
RefSeq NP_004924
HUGO HGNC:1754
OMIM 114019
CCDS CCDS10976
HPRD 00225
IMGT
EMBL BC008951 D83542
GenPept AAH08951 BAA12012