PCDH15
entrez
65217
canonical
uniprot
Q96QU1
canonical
ensembl
ENSG00000150275
resolver
ensp
ENSP00000322604
resolver
ensp
ENSP00000354950
resolver
ensp
ENSP00000363066
resolver
ensp
ENSP00000363068
resolver
ensp
ENSP00000363076
resolver
ensp
ENSP00000378818
resolver
ensp
ENSP00000378821
resolver
ensp
ENSP00000378832
resolver
ensp
ENSP00000412628
resolver
ensp
ENSP00000478076
resolver
ensp
ENSP00000482794
resolver
ensp
ENSP00000483745
resolver
ensp
ENSP00000484454
resolver
ensp
ENSP00000495195
resolver
enst
ENST00000361849
resolver
enst
ENST00000373957
resolver
enst
ENST00000373965
resolver
enst
ENST00000395430
resolver
enst
ENST00000395433
resolver
enst
ENST00000437009
resolver
enst
ENST00000613657
resolver
enst
ENST00000617271
resolver
enst
ENST00000621708
resolver
genesymbol
PCDH15
resolver
genesymbol_syn
USH1F
resolver
hgnc
HGNC:14674
resolver
uniprot
A0A087WTR6
resolver
uniprot
A0A087WZN9
resolver
uniprot
A0A087X1T6
resolver
uniprot
A0A2R8Y6C0
resolver
uniprot
A2A3D8
resolver
uniprot
A2A3E6
resolver
uniprot
A2A3E7
resolver
uniprot
A2A3E8
resolver
uniprot
A6NL19
resolver
uniprot
A9Z1W1
resolver
uniprot
C6ZEF5
resolver
uniprot
C6ZEF6
resolver
uniprot
C6ZEF7
resolver
uniprot
E7EM53
resolver
uniprot
Q5VY38
resolver
uniprot
Q5VY39
resolver
uniprot
Q6TRH8
resolver
uniprot
Q8NDB9
resolver
uniprot
Q96QT8
resolver
uniprot_entry
A0A087WTR6_HUMAN
resolver
uniprot_entry
A0A087WZN9_HUMAN
resolver
uniprot_entry
A0A087X1T6_HUMAN
resolver
uniprot_entry
A2A3D8_HUMAN
resolver
uniprot_entry
A2A3E6_HUMAN
resolver
uniprot_entry
A2A3E7_HUMAN
resolver
uniprot_entry
A2A3E8_HUMAN
resolver
uniprot_entry
A9Z1W1_HUMAN
resolver
uniprot_entry
E7EM53_HUMAN
resolver
uniprot_entry
PCD15_HUMAN
resolver
uniprot_sec
A0A2R8Y6C0
resolver
uniprot_sec
A6NL19
resolver
uniprot_sec
C6ZEF5
resolver
uniprot_sec
C6ZEF6
resolver
uniprot_sec
C6ZEF7
resolver
uniprot_sec
Q5VY38
resolver
uniprot_sec
Q5VY39
resolver
uniprot_sec
Q6TRH8
resolver
uniprot_sec
Q8NDB9
resolver
uniprot_sec
Q96QT8
resolver
amino_acid_sequence
MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSILFLLYHFQQSRGNNSVSEDRKHQQVVMPFSSNTIEAHKSAHVDGSLKSNKLKSARKFTFLSDEDDLSAHNPLYKENISQVSTNSDISQRTDFVDPFSPKIQAKSKSLRGPREKIQRLWSQSVSLPRRLMRKVPNRPEIIDLQQWQGTRQKAENENTGICTNKRGSSNPLLTTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDSSFCFPRPHFSFSTLPTVSRTVELKSEPNVISSPAECSLELSPSRPCVLHSSLSRRETPICMLPIETERNIFENFAHPPNISPSACPLPPPPPISPPSPPPAPAPLAPPPDISPFSLFCPPPSPPSIPLPLPPPTFFPLSVSTSGPPTPPLLPPFPTPLPPPPPSIPCPPPPSASFLSTECVCITGVKCTTNLMPAEKIKSSMTQLSTTTVCKTDPQREPKGILRHVKNLAELEKSVANMYSQIEKNYLRTNVSELQTMCPSEVTNMEITSEQNKGSLNNIVEGTEKQSHSQSTSL
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:15660226, ECO:0000269|PubMed:22815625}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Usher syndrome 1D/F (USH1DF) [MIM:601067]: A digenic recessive form of Usher syndrome, 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:0000269|PubMed:15537665, ECO:0000269|PubMed:18719945}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.; DISEASE: 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:0000269|PubMed:14570705, ECO:0000269|PubMed:18719945, ECO:0000269|PubMed:28281779}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function.
uniprot
proteins
mass_dalton
216069
uniprot
proteins
pubmed
11398101
uniprot
proteins
pubmed
11487575
uniprot
proteins
pubmed
14570705
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15537665
uniprot
proteins
pubmed
15660226
uniprot
proteins
pubmed
16369489
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18719945
uniprot
proteins
pubmed
22815625
uniprot
proteins
pubmed
28281779
uniprot
proteins
sequence_length
1955
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: 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}.; SUBCELLULAR LOCATION: [Isoform 3]: Secreted.
uniprot
proteins
transmembrane_region
TRANSMEM 1377..1397; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins