protocadherin-15 (PCDH15)

Function: - Ca⁺²-dependent cell-adhesion protein - essential for maintenance of normal retinal & cochlear function Structure: contains 11 cadherin domains Compartment: - cell membrane - single-pass type 1 membrane protein (putative) - isoform 3: secreted Alternative splicing: named isoforms=3 Expression: - expressed in brain, lung, kidney, spleen & testis - found in inner & outer synaptic layers, & the nerve fiber layer in adult & fetal retinas - found in the supporting cells, outer sulcus cells & spiral ganglion of fetal cochlea - expressed in cytotoxic tumor-derived T- & 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 Pathology: - defects in PCDH15 are the cause of a) Usher syndrome type 1F b) deafness autosomal recessive type 23 - defects in PCDH15 are a cause of Usher syndrome type 1DF

Related

cadherin PCDH15 (protocadherin 15) gene PCDH15 gene mutation

Properties

SIZE: entity length = 1955 aa MW = 216 kD COMPARTMENT: cellular membrane MOTIF: signal sequence {1-26} cadherin domain {40-147} MOTIF: N-glycosylation site {N52} N-glycosylation site {N97} cadherin domain {148-265} MOTIF: N-glycosylation site {N201} cadherin domain {278-395} cadherin domain {396-509} MOTIF: N-glycosylation site {N419} cadherin domain {510-616} MOTIF: N-glycosylation site {N559} cadherin domain {617-717} MOTIF: N-glycosylation site {N662} cadherin domain {719-819} MOTIF: N-glycosylation site {N724} N-glycosylation site {N768} cadherin domain {820-926} MOTIF: N-glycosylation site {N821} N-glycosylation site {N851} cadherin domain {927-1035} cadherin domain {1037-1144} MOTIF: N-glycosylation site {N1064} N-glycosylation site {N1084} cadherin domain {1145-1259} MOTIF: N-glycosylation site {N1175} transmembrane domain {1377-1397} proline-rich region SITE: 1435-1443 MOTIF: proline residue (SEVERAL) proline-rich region SITE: 1746-1752 MOTIF: proline residue (SEVERAL) proline-rich region SITE: 1815-1823 MOTIF: proline residue (SEVERAL) proline-rich region SITE: 1826-1831 MOTIF: proline residue (SEVERAL)

Database Correlations

OMIM correlations MORBIDMAP 605514 UniProt Q96QU1 Pfam PF00028 Entrez Gene 65217