LOCUS AY029237 6845 bp mRNA linear HUM 08-AUG-2003 DEFINITION Homo sapiens protocadherin 15 mRNA, complete cds. ACCESSION AY029237 VERSION AY029237.1 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 6845) AUTHORS Ahmed,Z.M., Riazuddin,S., Bernstein,S.L., Ahmed,Z., Khan,S., Griffith,A.J., Morell,R.J., Friedman,T.B., Riazuddin,S. and Wilcox,E.R. TITLE Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F JOURNAL Am. J. Hum. Genet. 69 (1), 25-34 (2001) PUBMED 11398101 REFERENCE 2 (bases 1 to 6845) AUTHORS Ahmed,Z., Riazuddin,S., Bernstein,S.L., Morell,R.J., Griffith,A.J., Friedman,T.B. and Wilcox,E.R. TITLE Direct Submission JOURNAL Submitted (05-APR-2001) Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, 5 Research Court, 2A-19, Rockville, MD 20850-3227, USA FEATURES Location/Qualifiers source 1..6845 /db_xref="H-InvDB:HIT000083329" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="10" /map="10q21.1" CDS 396..6263 /note="PCDH15" /codon_start=1 /product="protocadherin 15" /protein_id="AAK31804.1" /translation="MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIV AIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRV LDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELT PVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRK RLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRD CRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDY PRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQS PYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTS VFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPT FPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLIT IAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLE ISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTD RYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVK ATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHP RHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRI RSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTV IVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQF PYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPG EIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGV IYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQK KFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLI KTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEK KIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRA IDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALL ALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPP PPPPPPPGAHLYEELGDSSILFLLYHFQQSRGNNSVSEDRKHQQVVMPFSSNTIEAHK SAHVDGSLKSNKLKSARKFTFLSDEDDLSAHNPLYKENISQVSTNSDISQRTDFVDPF SPKIQAKSKSLRGPREKIQRLWSQSVSLPRRLMRKVPNRPEIIDLQQWQGTRQKAENE NTGICTNKRGSSNPLLTTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDSSFCFPRPH FSFSTLPTVSRTVELKSEPNVISSPAECSLELSPSRPCVLHSSLSRRETPICMLPIET ERNIFENFAHPPNISPSACPLPPPPPISPPSPPPAPAPLAPPPDISPFSLFCPPPSPP SIPLPLPPPTFFPLSVSTSGPPTPPLLPPFPTPLPPPPPSIPCPPPPSASFLSTECVC ITGVKCTTNLMPAEKIKSSMTQLSTTTVCKTDPQREPKGILRHVKNLAELEKSVANMY SQIEKNYLRTNVSELQTMCPSEVTNMEITSEQNKGSLNNIVEGTEKQSHSQSTSL" BASE COUNT 2067 a 1502 c 1401 g 1875 t ORIGIN 1 caacgtgctg agctaatagc gacagataga gggcagacag attcctgcta gcagcttagt 61 gttagttgct tgtggtaact aaggcaggtg gcatacatct cagaacgtgg agaatgatgg 121 tatgctttct gagttaacat gttgaactgt tttgcttttc taaaaatttt cctagtaaca 181 ttttcttgat gatatgagag tggatatcaa tgcctcacag aaacaagagg tggaacatgt 241 gaatgaatcg tcttggaact agattatgag cactggttct ttttaaaggg atgtgcaaga 301 ggcagccttg gcaagaaaac ttgctgcata atcttacatg gactaaagat gaaactttaa 361 accgcaaatc agctttgagt gaactttgac agaagatgtt tcgacagttt tatctctgga 421 catgtttagc ttcagggatc atcctgggct ctctctttga aatctgcttg ggccagtatg 481 atgatgattg caaactagct aggggaggac caccagctac catagttgct attgatgaag 541 aaagtcggaa tggtacaatt ctggtggaca acatgctgat caaagggact gctggaggac 601 cagaccccac catagaactt tctttaaagg ataatgtgga ttactgggtg ttgatggatc 661 ctgttaagca aatgcttttc ctgaacagca ccggaagagt tctggataga gatccaccga 721 tgaacataca ctccattgtg gtgcaggtcc agtgcatcaa caaaaaagtg ggcactatta 781 tctaccatga agtgcgaata gtggtgagag acaggaatga caactcaccc actttcaagc 841 atgaaagcta ctatgccaca gtgaatgagc tcactccagt tggtaccaca atattcacag 901 gattttcagg agacaatgga gctacagata tagatgatgg accaaatgga cagatagagt 961 atgttattca gtataatcca gatgatccga catccaatga cacctttgaa attcccctaa 1021 tgttgactgg aaatatagtg ttaaggaaga ggctcaacta tgaagataag actcgctact 1081 ttgtcataat ccaagctaat gaccgtgccc aaaatctgaa tgagaggcga accaccacca 1141 ccactctcac agtggatgtt ctggatggag atgacttggg tccaatgttt cttccttgtg 1201 tccttgtgcc aaacactcgt gattgccgtc cactcactta tcaagctgcc atacctgagt 1261 tgagaactcc ggaagaactg aaccccatta ttgttacgcc accaatccaa gccattgatc 1321 aggaccggaa tattcaaccg ccatcagata ggccaggaat cctctattcc atccttgttg 1381 ggactcctga ggattaccca cgatttttcc atatgcatcc taggacagca gaacttagtc 1441 tcctggagcc agtaaacaga gactttcacc agaaatttga tttggttatt aaggctgaac 1501 aagacaatgg tcatcctctt cctgcctttg ccggtctaca cattgaaata ctggatgaaa 1561 acaatcaaag tccatatttt acaatgccca gttatcaagg ctatatcctg gaatctgccc 1621 cagtgggagc aaccatttcg gacagtctca atttgacttc acctttaaga atagtagctc 1681 tggacaagga catagaagat acaaaagacc cagagcttca cctttttctg aatgactaca 1741 cctcagtctt caccgtcaca cagactggta ttactcgcta cctcacctta cttcaaccag 1801 tggacaggga agaacagcaa acttacacct tttcgataac agcatttgat ggtgtacaag 1861 aaagtgagcc agtcatcgtc aatattcaag tgatggatgc aaatgataac acgccaacct 1921 tccctgaaat atcctatgat gtgtatgttt atacagacat gagacctggg gacagtgtca 1981 tacagctcac tgcagtcgac gcagacgaag ggtcaaatgg ggagatcaca tatgaaatcc 2041 ttgttggggc tcagggagac ttcatcatca ataaaacaac agggcttatc accatcgctc 2101 caggggtgga aatgatagtc gggcggactt acgcactcac ggtccaagca gcggataatg 2161 ctcctcctgc agagcgaagg aactccatct gcactgtgta tattgaagtg cttccaccaa 2221 ataatcaaag ccctcctcgc ttcccacagc tgatgtatag ccttgaaatt agtgaagcca 2281 tgagggttgg tgctgtttta ttaaatctac aggcaactga tcgagaggga gactcaataa 2341 catatgccat tgagaatgga gatcctcaga gagtttttaa tctttcagaa accacgggga 2401 ttctaacctt agggaaagca ctggacaggg aaagcactga tcgctacatt ctgatcatca 2461 cagcttcaga tggcaggcca gatgggacct caactgccac agtaaacata gtggtgacag 2521 atgtcaatga caatgctcca gtgtttgatc cttatctgcc aagaaattta tctgtggtgg 2581 aagaagaagc caatgccttt gtgggtcaag taaaagcaac agaccctgat gctggaataa 2641 atggtcaagt gcactacagt ttgggtaact ttaataatct ttttcgtatc acatccaatg 2701 ggagcattta cacagcagtg aagcttaaca gagaagtcag ggactactat gaacttgttg 2761 ttgtggcaac agatggagca gtacaccctc gtcattcaac tctaaccttg gccatcaagg 2821 ttttggacat tgatgataac agtcctgtgt tcaccaattc aacatacact gtccttgttg 2881 aagagaattt gccagctggg actaccatcc ttcaaataga ggccaaagat gtcgaccttg 2941 gagcaaatgt gtcttaccgg ataagaagcc cagaagtgaa gcactttttt gcactacatc 3001 catttacagg agaactatcg cttttaagga gtttagatta tgaggcattt ccagaccaag 3061 aagcaagtat cacttttctg gtagaggcct ttgatattta tggaacaatg ccacctggta 3121 ttgctactgt cacagtgatt gtaaaggata tgaatgatta tcctcctgtc tttagtaaac 3181 gaatatacaa agggatggtg gctccggatg cagtcaaggg tacacctatc acaacagttt 3241 atgctgaaga tgcagaccct cctggattac ctgcaagtcg tgtgaggtat agagtagatg 3301 atgtacagtt tccttaccct gccagtattt ttgaagtgga agaagattct ggaagagtaa 3361 taacacgagt caatcttaat gaagaaccta caacaatttt taagttggtg gtggttgctt 3421 ttgatgatgg ggagcctgtg atgtccagca gtgccacagt gaagattctt gtcttacatc 3481 ctggtgagat cccacgcttc acacaggagg aatatagacc tcctccagta agtgaacttg 3541 ccaccaaagg gaccatggtt ggtgtaattt ctgctgctgc cattaatcaa agtattgtgt 3601 actccattgt ttcaggaaat gaagaagata catttggaat taataacatc acaggtgtta 3661 tctatgtgaa tggacctctg gattatgaga ccaggacaag ctatgtactt cgagtccaag 3721 ctgattccct ggaagtggtc cttgccaatc tccgagttcc ttcaaaaagc aatacagcta 3781 aagtatacat tgagattcag gatgaaaata atcatccccc agtgtttcag aaaaaattct 3841 acatcggagg tgtatctgaa gatgcaagaa tgtttacttc tgtactcaga gtgaaggcta 3901 ctgataaaga tactggcaat tatagtgtca tggcctacag actcataata ccaccaatta 3961 aagagggaaa agaaggattt gtagtggaaa catatacagg gcttatcaaa actgctatgc 4021 tcttccataa tatgaggaga tcctacttca agtttcaagt tattgcaact gacgactatg 4081 ggaagggact gagcggcaaa gccgatgtac tcgtctccgt ggtcaatcag ctggatatgc 4141 aagtcattgt ttccaatgtg cctcctactc tagtggaaaa aaagatagaa gatcttacag 4201 agatcttgga tcgctatgtt caggaacaaa ttcctggtgc caaggtcgta gtggagtcca 4261 ttggagctcg ccggcatgga gatgcctttt ccctagaaga ttacaccaaa tgtgacttga 4321 ctgtctatgc aattgacccc caaaccaaca gagccatcga tagaaatgag ctttttaaat 4381 ttttggatgg caaactactt gatatcaata aagactttca gccgtattat ggggaaggag 4441 gacgcattct ggagatccgg actccagagg cagtgaccag cattaaaaag agaggagaaa 4501 gtctaggata cacagaaggg gccttgttgg ctctggcctt catcatcatc ctctgctgca 4561 ttcctgccat cttggtggtt ttggtcagct acagacagtt taaagtacgt caagctgagt 4621 gtacaaagac tgcacgaatt caggccgcat tacccgcggc taaaccagca gtgccggctc 4681 ctgcaccagt ggcagcgccc ccgccgccgc cgccgcctcc gccaggtgcg catctctatg 4741 aagaacttgg agacagctca attcttttcc ttctctacca ttttcaacaa agcaggggaa 4801 ataactcagt ctcagaagac aggaaacatc aacaagttgt gatgcccttt tcttccaata 4861 ctattgaggc tcacaagtca gctcatgtag acggatcact taagagcaac aaactgaagt 4921 ctgcaagaaa attcacattt ctatctgatg aggatgactt aagtgcccat aatccccttt 4981 ataaggaaaa cataagtcaa gtatcaacaa attcagacat ttcacagaga acagattttg 5041 tagacccatt ttcacccaaa atacaagcca agagtaagtc tctgaggggc ccaagagaaa 5101 agattcagag gctgtggagt cagtcagtca gcttacccag gaggctgatg aggaaagttc 5161 caaatagacc agagatcata gatctgcagc agtggcaagg caccaggcag aaagctgaaa 5221 atgaaaacac tggaatctgt acaaacaaaa gaggtagcag caatccattg cttacaactg 5281 aagaggcaaa tttgacagag aaagaggaaa taaggcaagg tgaaacactg atgatagaag 5341 gaacagaaca gttgaaatct ctctcttcag actcttcatt ttgctttccc aggcctcact 5401 tctcattctc cactttgcca actgtttcaa gaactgtgga actcaaatca gaacctaatg 5461 tcatcagttc tcctgctgag tgttccttgg aactttctcc ttcaaggcct tgtgttttac 5521 attcttcact ctctaggaga gagacaccta tttgtatgtt acctattgaa accgaaagaa 5581 atatttttga aaattttgcc catccaccaa acatctctcc ttctgcctgt ccccttcccc 5641 ctcctcctcc tatttctcct ccttctcctc ctcctgctcc tgctcctctt gctcctcctc 5701 ctgacatttc tcctttttct cttttttgtc ctcctccctc tcctccttct atccctcttc 5761 ctcttcctcc tcctacattt tttccacttt ccgtttcaac gtctggtccc ccaacaccac 5821 ctcttctacc tccatttcca actcctcttc ctccaccacc tccttctatt ccttgccctc 5881 cacctccttc agcttcattt ctgtccacag agtgtgtctg tataacaggt gttaaatgca 5941 cgaccaactt gatgcctgcc gagaaaatta agtcctctat gacacagcta tcaacaacga 6001 cagtgtgtaa aacagaccct cagagagaac caaaaggcat cctcagacac gttaaaaact 6061 tagcagaact tgaaaaatca gtagctaaca tgtacagtca aatagaaaaa aactatctac 6121 gcacaaatgt ttcagaactt caaactatgt gcccttcaga agtaacaaat atggaaatca 6181 catctgaaca aaacaagggg agtttgaaca atattgtcga gggaactgaa aaacaatctc 6241 acagtcaatc tacttcactg taatgttgct tttcttattt tagtcgggca aacctcttgt 6301 tgatcatagt cttcaagttg aacatcaaat ttgaacgtca aagaagactc tattatttta 6361 ccccaaattc aatgaaatgc agtttttttt ctcgttttta atttaaaaag atattaacct 6421 catcactact aactcactca tataatagat ttaccttact ttttaaaaac tacaaagtag 6481 cataatttgt tctacattta tttgaaaagt aagtaatttt aatctctttt ttagtgggaa 6541 tatgtgggca tgaaaattag atacccaact taaaccaaag gcatgtctat catgtggatg 6601 cagtaacatt tacatttagt ttttgatcgt agttttatat gaatgttcca agaaaaaagc 6661 agactgttac aaataagtta aaactgatat gattgatagg ttctgttttt tcttgaagcc 6721 tatgtatttg gtaagaagaa atactaccga agtaaaatat aatgtaccta gattgtagga 6781 gatgacagac ataaggtatt tcaaaataaa tctcaggtgc tataacatgt agtcatctgt 6841 tttct //