LOCUS AY633572 3192 bp mRNA linear HUM 27-OCT-2004 DEFINITION Homo sapiens transmembrane protease serine 3 isoform 5 (TMPRSS3) mRNA, complete cds. ACCESSION AY633572 VERSION AY633572.1 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 3192) AUTHORS Ahmed,Z.M., Li,X.C., Powell,S.D., Riazuddin,S., Young,T.L., Ramzan,K., Ahmad,Z., Luscombe,S., Dhillon,K., MacLaren,L., Ploplis,B., Shotland,L.I., Ives,E., Riazuddin,S., Friedman,T.B., Morell,R.J. and Wilcox,E.R. TITLE Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan JOURNAL BMC Med. Genet. 5, 24 (2004) PUBMED 15447792 REMARK Publication Status: Online-Only REFERENCE 2 (bases 1 to 3192) AUTHORS Ahmed,Z.M., Wilcox,E.R. and Friedman,T.B. TITLE Direct Submission JOURNAL Submitted (23-MAY-2004) Laboratory of Molecular Genetics, NIDCD/NIH, 5 Research Court, Rockville, MD 20850, USA FEATURES Location/Qualifiers source 1..3192 /db_xref="H-InvDB:HIT000255789" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /tissue_type="retina" gene 1..3192 /gene="TMPRSS3" /note="transcript variant E" CDS 705..2321 /gene="TMPRSS3" /note="serine protease TADG12" /codon_start=1 /product="transmembrane protease serine 3 isoform 5" /protein_id="AAT66641.1" /translation="MQAVGPKPLPTLLCGGRTGHRTARVLSFLIRSCPCEPGKGCVYG KPVTLWPTISSVVPSTFLGLGNYEVEVEAEPDVRGPEIVTMGENDPPAVEAPFSFRSL FGLDDLKISPVAPDADAVAAQILSLLPLKFFPIIVIGIIALILALAIGLGIHFDCSGK YRCRSSFKCIELIARCDGVSDCKDGEDEYRCVRVGGQNAVLQVFTAASWKTMCSDDWK GHYANVACAQLGFPSYVSSDNLRVSSLEGQFREEFVSIDHLLPDDKVTALHHSVYVRE GCASGHVVTLQCTACGHRRGYSSRIVGGNMSLLSQWPWQASLQFQGYHLCGGSVITPL WIITAAHCVYDLYLPKSWTIQVGLVSLLDNPAPSHLVEKIVYHSKYKPKRLGNDIALM KLAGPLTFNEMIQPVCLPNSEENFPDGKVCWTSGWGATEDGAGDASPVLNHAAVPLIS NKICNHRDVYGGIISPSMLCAGYLTGGVDSCQGDSGGPLVCQERRLWKLVGATSFGIG CAEVNKPGVYTRVTSFLDWIHEQMERDLKT" BASE COUNT 724 a 811 c 837 g 820 t ORIGIN 1 ttctgctttt aatgatggca gctccagaaa tggtgagtaa aatgggtgtg aggagagaag 61 atgcttctca acacttctca gtgttgtaca gcttgccaac cacagcctgt ttgggagggg 121 atgttctcac ccaggttcca tctttcagaa gccatttgcc cacttattct ttttatatgg 181 ataaacgatg taatttgcta catgctgata ataaacagag gtatcagcaa gaatgaaagc 241 cagaaaatgg cccaacatga acttcttgct tttctaagtt actctttcaa gctcttcttg 301 cgatagaaat gaaatgaaca tttttggcac agaactcttg tttagatttt actatgatct 361 tgggaaacac gggttgcttc aaatggctta ctagatccct ttggaatttc aaacgttaca 421 acaggtagtc acaaagggaa tgaaagcgga tgatctgagt gtctgtgctg atgtgcctgc 481 tggagcccct gtggatttta gcccttggag gaagcaggtt cccagagcag ccatgcctga 541 tatctgggag agggaactag aatttaattg ggaatcttct gctatttccc tgcttcctcc 601 gccctctcag agttacaggg aatgacttag aaaggtctct ggtctccttg gcattgtgat 661 aggtggaatt ctttcgtagg aaacacagcc ccggggttat tttgatgcaa gccgttggtc 721 caaagccact ccccactttg ctatgtgggg gaaggaccgg gcaccggacg gctcgggtac 781 tttcgttctt aattaggtca tgcccgtgtg agccaggaaa gggctgtgtt tatgggaagc 841 cagtaacact gtggcctact atctcttccg tggtgccatc tacatttttg ggactcggga 901 attatgaggt agaggtggag gcggagccgg atgtcagagg tcctgaaata gtcaccatgg 961 gggaaaatga tccgcctgct gttgaagccc ccttctcatt ccgatcgctt tttggccttg 1021 atgatttgaa aataagtcct gttgcaccag atgcagatgc tgttgctgca cagatcctgt 1081 cactgctgcc attgaagttt tttccaatca tcgtcattgg gatcattgca ttgatattag 1141 cactggccat tggtctgggc atccacttcg actgctcagg gaagtacaga tgtcgctcat 1201 cctttaagtg tatcgagctg atagctcgat gtgacggagt ctcggattgc aaagacgggg 1261 aggacgagta ccgctgtgtc cgggtgggtg gtcagaatgc cgtgctccag gtgttcacag 1321 ctgcttcgtg gaagaccatg tgctccgatg actggaaggg tcactacgca aatgttgcct 1381 gtgcccaact gggtttccca agctatgtga gttcagataa cctcagagtg agctcgctgg 1441 aggggcagtt ccgggaggag tttgtgtcca tcgatcacct cttgccagat gacaaggtga 1501 ctgcattaca ccactcagta tatgtgaggg agggatgtgc ctctggccac gtggttacct 1561 tgcagtgcac agcctgtggt catagaaggg gctacagctc acgcatcgtg ggtggaaaca 1621 tgtccttgct ctcgcagtgg ccctggcagg ccagccttca gttccagggc taccacctgt 1681 gcgggggctc tgtcatcacg cccctgtgga tcatcactgc tgcacactgt gtttatgact 1741 tgtacctccc caagtcatgg accatccagg tgggtctagt ttccctgttg gacaatccag 1801 ccccatccca cttggtggag aagattgtct accacagcaa gtacaagcca aagaggctgg 1861 gcaatgacat cgcccttatg aagctggccg ggccactcac gttcaatgaa atgatccagc 1921 ctgtgtgcct gcccaactct gaagagaact tccccgatgg aaaagtgtgc tggacgtcag 1981 gatggggggc cacagaggat ggagcaggtg acgcctcccc tgtcctgaac cacgcggccg 2041 tccctttgat ttccaacaag atctgcaacc acagggacgt gtacggtggc atcatctccc 2101 cctccatgct ctgcgcgggc tacctgacgg gtggcgtgga cagctgccag ggggacagcg 2161 gggggcccct ggtgtgtcaa gagaggaggc tgtggaagtt agtgggagcg accagctttg 2221 gcatcggctg cgcagaggtg aacaagcctg gggtgtacac ccgtgtcacc tccttcctgg 2281 actggatcca cgagcagatg gagagagacc taaaaacctg aagaggaagg ggacaagtag 2341 ccacctgagt tcctgaggtg atgaagacag cccgatcctc ccctggactc ccgtgtagga 2401 acctgcacac gagcagacac ccttggagct ctgagttccg gcaccagtag caggcccgaa 2461 agaggcaccc ttccatctga ttccagcaca accttcaagc tgctttttgt tttttgtttt 2521 tttgaggtgg agtctcgctc tgttgcccag gctggagtgc agtggcgaaa tccctgctca 2581 ctgcagcctc cgcttccctg gttcaagcga ttctcttgcc tcagcttccc cagtagctgg 2641 gaccacaggt gcccgccacc acacccaact aatttttgta tttttagtag agacagggtt 2701 tcaccatgtt ggccaggctg ctctcaaacc cctgacctca aatgatgtgc ctgcttcagc 2761 ctcccacagt gctgggatta caggcatggg ccaccacgcc tagcctcacg ctcctttctg 2821 atcttcacta agaacaaaag aagcagcaac ttgcaagggc ggcctttccc actggtccat 2881 ctggttttct ctccaggggt cttgcaaaat tcctgacgag ataagcagtt atgtgacctc 2941 acgtgcaaag ccaccaacag ccactcagaa aagacgcacc agcccagaag tgcagaactg 3001 cagtcactgc acgttttcat ctctagggac cagaaccaaa cccacccttt ctacttccaa 3061 gacttatttt cacatgtggg gaggttaatc taggaatgac tcgtttaagg cctattttca 3121 tgatttcttt gtagcatttg gtgcttgacg tattattgtc ctttgattcc aaataatatg 3181 tttccttccc tc //