InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PCDH15

Summary

InnateDB Protein

IDBP-74767.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PCDH15

Protein Name

protocadherin-related 15

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000322604

InnateDB Gene

IDBG-74763 (PCDH15)

Protein Structure

UniProt Annotation

Function

Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function.

Subcellular Localization

Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Efficient localization to the plasma membrane requires the presence of LHFPL5. {ECO:0000250}.Isoform 3: Secreted.

Disease Associations

Usher syndrome 1F (USH1F) [MIM:602083]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. {ECO:0000269PubMed:15660226}. Note=The disease is caused by mutations affecting the gene represented in this entry.Usher syndrome 1D/F (USH1DF) [MIM:601067]: USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern. {ECO:0000269PubMed:15537665, ECO:0000269PubMed:18719945}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.Deafness, autosomal recessive, 23 (DFNB23) [MIM:609533]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269PubMed:14570705, ECO:0000269PubMed:18719945}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in brain, lung, kidney, spleen and testis. Found also in the inner and outer synaptic layers, and the nerve fiber layer in adult and fetal retinas. Found in the supporting cells, outer sulcus cells and spiral ganglion of fetal cochlea. Expressed in cytotoxic tumor-derived T- and NK-cell lines as well as biopsies of nasal NK/T-cell lymphomas. Not detected in normal or in vitro activated peripheral blood cells, CD4 or CD8 lymphocytes or NK cells. Isoform 3 is expressed in brain, heart, cerebellum and kidney. CD1 isoforms, such as isoform 1, have a limited pattern of expression and is detected in testis, retina and cochlea. CD2 isoforms, such as isoforms 4 and 5, are expressed in heart, kidney, thymus, spleen, testis, retina and cochlea. CD3 isoforms, such as isoform 6, are widely expressed. {ECO:0000269PubMed:11487575, ECO:0000269PubMed:16369489, ECO:0000269PubMed:18719945}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding

Biological Process

GO:0007156	homophilic cell adhesion
GO:0007605	sensory perception of sound
GO:0045494	photoreceptor cell maintenance
GO:0050953	sensory perception of light stimulus
GO:0050957	equilibrioception

Cellular Component

GO:0001750	photoreceptor outer segment
GO:0005615	extracellular space
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0032420	stereocilium
GO:0045202	synapse
GO:0070062	extracellular vesicular exosome