Version 5.4
Homo sapiens Protein: CDHR1
Summary
InnateDB Protein IDBP-80766.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CDHR1
Protein Name cadherin-related family member 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000331063
InnateDB Gene IDBG-80764 (CDHR1)
Protein Structure
UniProt Annotation
Function Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells (By similarity). {ECO:0000250}.
Subcellular Localization Cell membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Note=Localized at the junction between the inner and outer segments of rod and cone photoreceptors cells. Confined to the base of the OS. Localized on the edges of nascent evaginating disks on the side of the OS opposite the connecting cilium. Expressed at postnatal day 2 at the apical tip of the rod photoreceptor cells, the site of the developing OS. Colocalized with rhodopsin between postnatal days 2 and 9 at the base of the growing OS region (By similarity). {ECO:0000250}.
Disease Associations Cone-rod dystrophy 15 (CORD15) [MIM:613660]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269PubMed:20805371}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 2 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
Biological Process
GO:0007156 homophilic cell adhesion
Cellular Component
GO:0016020 membrane
Protein Structure and Domains
PDB ID
InterPro IPR002126 Cadherin
IPR015919 Cadherin-like
PFAM PF00028
PRINTS PR00205
PIRSF
SMART SM00112
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96JP9
PhosphoSite PhosphoSite-Q96JP9
TrEMBL
UniProt Splice Variant
Entrez Gene 92211
UniGene Hs.137556
RefSeq NP_001165442
HUGO HGNC:14550
OMIM 609502
CCDS CCDS53548
HPRD 15106
IMGT
EMBL AB053448 AC022389 AL080188 BC038799
GenPept AAH38799 BAB61905 CAH10732

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca