KEGG   Homo sapiens (human): 65217
Entry
65217             CDS       T01001                                 
Symbol
PCDH15, CDHR15, DFNB23, USH1F
Name
(RefSeq) protocadherin related 15
  KO
K16500  protocadherin-15
Organism
hsa  Homo sapiens (human)
Disease
H00605  Deafness, autosomal recessive
H00779  Usher syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    65217 (PCDH15)
   04515 Cell adhesion molecules [BR:hsa04515]
    65217 (PCDH15)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  USH complex and associated proteins
   65217 (PCDH15)
Cell adhesion molecules [BR:hsa04515]
 Cadherins
  Protocadherins
   65217 (PCDH15)
SSDB
Motif
Pfam: Cadherin ECD Cadherin_3 CshA_repeat
Other DBs
NCBI-GeneID: 65217
NCBI-ProteinID: NP_149045
OMIM: 605514
HGNC: 14674
Ensembl: ENSG00000150275
UniProt: Q96QU1
Structure
Position
10:complement(53802771..55627942)
AA seq 1955 aa
MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNM
LIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQC
INKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDID
DGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQN
LNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIV
TPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQK
FDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNL
TSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFS
ITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGS
NGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICT
VYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRV
FNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPY
LPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNRE
VRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQ
IEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFD
IYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPA
SRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSA
TVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTF
GINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNH
PPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETY
TGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLV
EKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRA
IDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLAL
AFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPP
PPPGAHLYEELGDSSILFLLYHFQQSRGNNSVSEDRKHQQVVMPFSSNTIEAHKSAHVDG
SLKSNKLKSARKFTFLSDEDDLSAHNPLYKENISQVSTNSDISQRTDFVDPFSPKIQAKS
KSLRGPREKIQRLWSQSVSLPRRLMRKVPNRPEIIDLQQWQGTRQKAENENTGICTNKRG
SSNPLLTTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDSSFCFPRPHFSFSTLPTVSRT
VELKSEPNVISSPAECSLELSPSRPCVLHSSLSRRETPICMLPIETERNIFENFAHPPNI
SPSACPLPPPPPISPPSPPPAPAPLAPPPDISPFSLFCPPPSPPSIPLPLPPPTFFPLSV
STSGPPTPPLLPPFPTPLPPPPPSIPCPPPPSASFLSTECVCITGVKCTTNLMPAEKIKS
SMTQLSTTTVCKTDPQREPKGILRHVKNLAELEKSVANMYSQIEKNYLRTNVSELQTMCP
SEVTNMEITSEQNKGSLNNIVEGTEKQSHSQSTSL
NT seq 5868 nt   +upstreamnt  +downstreamnt
atgtttcgacagttttatctctggacatgtttagcttcagggatcatcctgggctctctc
tttgaaatctgcttgggccagtatgatgatgattgcaaactagctaggggaggaccacca
gctaccatagttgctattgatgaagaaagtcggaatggtacaattctggtggacaacatg
ctgatcaaagggactgctggaggaccagaccccaccatagaactttctttaaaggataat
gtggattactgggtgttgatggatcctgttaagcaaatgcttttcctgaacagcaccgga
agagttctggatagagatccaccgatgaacatacactccattgtggtgcaggtccagtgc
atcaacaaaaaagtgggcactattatctaccatgaagtgcgaatagtggtgagagacagg
aatgacaactcacccactttcaagcatgaaagctactatgccacagtgaatgagctcact
ccagttggtaccacaatattcacaggattttcaggagacaatggagctacagatatagat
gatggaccaaatggacagatagagtatgttattcagtataatccagatgatccgacatcc
aatgacacctttgaaattcccctaatgttgactggaaatatagtgttaaggaagaggctc
aactatgaagataagactcgctactttgtcataatccaagctaatgaccgtgcccaaaat
ctgaatgagaggcgaaccaccaccaccactctcacagtggatgttctggatggagatgac
ttgggtccaatgtttcttccttgtgtccttgtgccaaacactcgtgattgccgtccactc
acttatcaagctgccatacctgagttgagaactccggaagaactgaaccccattattgtt
acgccaccaatccaagccattgatcaggaccggaatattcaaccgccatcagataggcca
ggaatcctctattccatccttgttgggactcctgaggattacccacgatttttccatatg
catcctaggacagcagaacttagtctcctggagccagtaaacagagactttcaccagaaa
tttgatttggttattaaggctgaacaagacaatggtcatcctcttcctgcctttgccggt
ctacacattgaaatactggatgaaaacaatcaaagtccatattttacaatgcccagttat
caaggctatatcctggaatctgccccagtgggagcaaccatttcggacagtctcaatttg
acttcacctttaagaatagtagctctggacaaggacatagaagatacaaaagacccagag
cttcacctttttctgaatgactacacctcagtcttcaccgtcacacagactggtattact
cgctacctcaccttacttcaaccagtggacagggaagaacagcaaacttacaccttttcg
ataacagcatttgatggtgtacaagaaagtgagccagtcatcgtcaatattcaagtgatg
gatgcaaatgataacacgccaaccttccctgaaatatcctatgatgtgtatgtttataca
gacatgagacctggggacagtgtcatacagctcactgcagtcgacgcagacgaagggtca
aatggggagatcacatatgaaatccttgttggggctcagggagacttcatcatcaataaa
acaacagggcttatcaccatcgctccaggggtggaaatgatagtcgggcggacttacgca
ctcacggtccaagcagcggataatgctcctcctgcagagcgaaggaactccatctgcact
gtgtatattgaagtgcttccaccaaataatcaaagccctcctcgcttcccacagctgatg
tatagccttgaaattagtgaagccatgagggttggtgctgttttattaaatctacaggca
actgatcgagagggagactcaataacatatgccattgagaatggagatcctcagagagtt
tttaatctttcagaaaccacggggattctaaccttagggaaagcactggacagggaaagc
actgatcgctacattctgatcatcacagcttcagatggcaggccagatgggacctcaact
gccacagtaaacatagtggtgacagatgtcaatgacaatgctccagtgtttgatccttat
ctgccaagaaatttatctgtggtggaagaagaagccaatgcctttgtgggtcaagtaaaa
gcaacagaccctgatgctggaataaatggtcaagtgcactacagtttgggtaactttaat
aatctttttcgtatcacatccaatgggagcatttacacagcagtgaagcttaacagagaa
gtcagggactactatgaacttgttgttgtggcaacagatggagcagtacaccctcgtcat
tcaactctaaccttggccatcaaggttttggacattgatgataacagtcctgtgttcacc
aattcaacatacactgtccttgttgaagagaatttgccagctgggactaccatccttcaa
atagaggccaaagatgtcgaccttggagcaaatgtgtcttaccggataagaagcccagaa
gtgaagcacttttttgcactacatccatttacaggagaactatcgcttttaaggagttta
gattatgaggcatttccagaccaagaagcaagtatcacttttctggtagaggcctttgat
atttatggaacaatgccacctggtattgctactgtcacagtgattgtaaaggatatgaat
gattatcctcctgtctttagtaaacgaatatacaaagggatggtggctccggatgcagtc
aagggtacacctatcacaacagtttatgctgaagatgcagaccctcctggattacctgca
agtcgtgtgaggtatagagtagatgatgtacagtttccttaccctgccagtatttttgaa
gtggaagaagattctggaagagtaataacacgagtcaatcttaatgaagaacctacaaca
atttttaagttggtggtggttgcttttgatgatggggagcctgtgatgtccagcagtgcc
acagtgaagattcttgtcttacatcctggtgagatcccacgcttcacacaggaggaatat
agacctcctccagtaagtgaacttgccaccaaagggaccatggttggtgtaatttctgct
gctgccattaatcaaagtattgtgtactccattgtttcaggaaatgaagaagatacattt
ggaattaataacatcacaggtgttatctatgtgaatggacctctggattatgagaccagg
acaagctatgtacttcgagtccaagctgattccctggaagtggtccttgccaatctccga
gttccttcaaaaagcaatacagctaaagtatacattgagattcaggatgaaaataatcat
cccccagtgtttcagaaaaaattctacatcggaggtgtatctgaagatgcaagaatgttt
acttctgtactcagagtgaaggctactgataaagatactggcaattatagtgtcatggcc
tacagactcataataccaccaattaaagagggaaaagaaggatttgtagtggaaacatat
acagggcttatcaaaactgctatgctcttccataatatgaggagatcctacttcaagttt
caagttattgcaactgacgactatgggaagggactgagcggcaaagccgatgtactcgtc
tccgtggtcaatcagctggatatgcaagtcattgtttccaatgtgcctcctactctagtg
gaaaaaaagatagaagatcttacagagatcttggatcgctatgttcaggaacaaattcct
ggtgccaaggtcgtagtggagtccattggagctcgccggcatggagatgccttttcccta
gaagattacaccaaatgtgacttgactgtctatgcaattgacccccaaaccaacagagcc
atcgatagaaatgagctttttaaatttttggatggcaaactacttgatatcaataaagac
tttcagccgtattatggggaaggaggacgcattctggagatccggactccagaggcagtg
accagcattaaaaagagaggagaaagtctaggatacacagaaggggccttgttggctctg
gccttcatcatcatcctctgctgcattcctgccatcttggtggttttggtcagctacaga
cagtttaaagtacgtcaagctgagtgtacaaagactgcacgaattcaggccgcattaccc
gcggctaaaccagcagtgccggctcctgcaccagtggcagcgcccccgccgccgccgccg
cctccgccaggtgcgcatctctatgaagaacttggagacagctcaattcttttccttctc
taccattttcaacaaagcaggggaaataactcagtctcagaagacaggaaacatcaacaa
gttgtgatgcccttttcttccaatactattgaggctcacaagtcagctcatgtagacgga
tcacttaagagcaacaaactgaagtctgcaagaaaattcacatttctatctgatgaggat
gacttaagtgcccataatcccctttataaggaaaacataagtcaagtatcaacaaattca
gacatttcacagagaacagattttgtagacccattttcacccaaaatacaagccaagagt
aagtctctgaggggcccaagagaaaagattcagaggctgtggagtcagtcagtcagctta
cccaggaggctgatgaggaaagttccaaatagaccagagatcatagatctgcagcagtgg
caaggcaccaggcagaaagctgaaaatgaaaacactggaatctgtacaaacaaaagaggt
agcagcaatccattgcttacaactgaagaggcaaatttgacagagaaagaggaaataagg
caaggtgaaacactgatgatagaaggaacagaacagttgaaatctctctcttcagactct
tcattttgctttcccaggcctcacttctcattctccactttgccaactgtttcaagaact
gtggaactcaaatcagaacctaatgtcatcagttctcctgctgagtgttccttggaactt
tctccttcaaggccttgtgttttacattcttcactctctaggagagagacacctatttgt
atgttacctattgaaaccgaaagaaatatttttgaaaattttgcccatccaccaaacatc
tctccttctgcctgtccccttccccctcctcctcctatttctcctccttctcctcctcct
gctcctgctcctcttgctcctcctcctgacatttctcctttttctcttttttgtcctcct
ccctctcctccttctatccctcttcctcttcctcctcctacattttttccactttccgtt
tcaacgtctggtcccccaacaccacctcttctacctccatttccaactcctcttcctcca
ccacctccttctattccttgccctccacctccttcagcttcatttctgtccacagagtgt
gtctgtataacaggtgttaaatgcacgaccaacttgatgcctgccgagaaaattaagtcc
tctatgacacagctatcaacaacgacagtgtgtaaaacagaccctcagagagaaccaaaa
ggcatcctcagacacgttaaaaacttagcagaacttgaaaaatcagtagctaacatgtac
agtcaaatagaaaaaaactatctacgcacaaatgtttcagaacttcaaactatgtgccct
tcagaagtaacaaatatggaaatcacatctgaacaaaacaaggggagtttgaacaatatt
gtcgagggaactgaaaaacaatctcacagtcaatctacttcactgtaa

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