LOCUS BC016057 2184 bp mRNA linear HUM 04-OCT-2003 DEFINITION Homo sapiens Usher syndrome 1C (autosomal recessive, severe), mRNA (cDNA clone MGC:23100 IMAGE:4867369), complete cds. ACCESSION BC016057 VERSION BC016057.1 KEYWORDS MGC. 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 2184) AUTHORS Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J. and Marra,M.A. TITLE Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences JOURNAL Proc. Natl. Acad. Sci. U.S.A. 99 (26), 16899-16903 (2002) PUBMED 12477932 REFERENCE 2 (bases 1 to 2184) AUTHORS Strausberg,R. TITLE Direct Submission JOURNAL Submitted (22-OCT-2001) National Institutes of Health, Mammalian Gene Collection (MGC), Cancer Genomics Office, National Cancer Institute, 31 Center Drive, Room 11A03, Bethesda, MD 20892-2590, USA REMARK NIH-MGC Project URL: http://mgc.nci.nih.gov COMMENT Contact: MGC help desk Email: cgapbs-r@mail.nih.gov Tissue Procurement: ATCC cDNA Library Preparation: Rubin Laboratory cDNA Library Arrayed by: The I.M.A.G.E. Consortium (LLNL) DNA Sequencing by: Genome Sequence Centre, BC Cancer Agency, Vancouver, BC, Canada info@bcgsc.bc.ca Steven Jones, Jennifer Asano, Ian Bosdet, Yaron Butterfield, Susanna Chan, Readman Chiu, Chris Fjell, Erin Garland, Ran Guin, Letticia Hsiao, Martin Krzywinski, Reta Kutsche, Oliver Lee, Soo Sen Lee, Victor Ling, Carrie Mathewson, Candice McLeavy, Steven Ness, Pawan Pandoh, Anna-Liisa Prabhu, Parvaneh Saeedi, Jacqueline Schein, Duane Smailus, Michael Smith, Lorraine Spence, Jeff Stott, Michael Thorne, Miranada Tsai, Natasja van den Bosch, Jill Vardy, George Yang, Scott Zuyderduyn, Marco Marra. Clone distribution: MGC clone distribution information can be found through the I.M.A.G.E. Consortium/LLNL at: http://image.llnl.gov Series: IRAL Plate: 34 Row: k Column: 2 This clone was selected for full length sequencing because it passed the following selection criteria: matched mRNA gi: 5031978. FEATURES Location/Qualifiers source 1..2184 /db_xref="H-InvDB:HIT000037469" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /clone="MGC:23100 IMAGE:4867369" /tissue_type="Colon, adenocarcinoma" /clone_lib="NIH_MGC_15" /lab_host="DH10B-R" /note="Vector: pOTB7" gene 1..2184 /gene="USH1C" /gene_synonym="AIE-75" /gene_synonym="DFNB18" /gene_synonym="HARMONIN" /gene_synonym="NY-CO-37" /gene_synonym="NY-CO-38" /gene_synonym="PDZ-45" /gene_synonym="PDZ-73" /gene_synonym="PDZ-73/NY-CO-38" /db_xref="GeneID:10083" /db_xref="MIM:605242" CDS 94..1695 /gene="USH1C" /gene_synonym="AIE-75" /gene_synonym="DFNB18" /gene_synonym="HARMONIN" /gene_synonym="NY-CO-37" /gene_synonym="NY-CO-38" /gene_synonym="PDZ-45" /gene_synonym="PDZ-73" /gene_synonym="PDZ-73/NY-CO-38" /codon_start=1 /product="USH1C protein" /protein_id="AAH16057.1" /db_xref="GeneID:10083" /db_xref="MIM:605242" /translation="MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVG DLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPRRSRKLKEVRLDRLHPEGLGLSV RGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVG SRGLGCSISSGPIQKPGIFISHVKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEGRE LFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMERQRRKEIAQKAAEEN ERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKYDQGVEPE LEPADDLDGGTEEQGEQDFRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALE GGVDSPIGKVVVSAVYERGAAERHGGIVKGDEIMAINGKIVTDYTLAEADAALQKAWN QGGDWIDLVVAVCPPKEYDDELTFF" misc_feature 343..591 /gene="USH1C" /gene_synonym="AIE-75" /gene_synonym="DFNB18" /gene_synonym="HARMONIN" /gene_synonym="NY-CO-37" /gene_synonym="NY-CO-38" /gene_synonym="PDZ-45" /gene_synonym="PDZ-73" /gene_synonym="PDZ-73/NY-CO-38" /note="PDZ; Region: Domain present in PSD-95, Dlg, and ZO-1/2. Also called DHR (Dlg homologous region) or GLGF (relatively well conserved tetrapeptide in these domains). Some PDZs have been shown to bind C-terminal polypeptides" /db_xref="CDD:smart00228" misc_feature 745..912 /gene="USH1C" /gene_synonym="AIE-75" /gene_synonym="DFNB18" /gene_synonym="HARMONIN" /gene_synonym="NY-CO-37" /gene_synonym="NY-CO-38" /gene_synonym="PDZ-45" /gene_synonym="PDZ-73" /gene_synonym="PDZ-73/NY-CO-38" /note="PDZ; Region: Domain present in PSD-95, Dlg, and ZO-1/2. Also called DHR (Dlg homologous region) or GLGF (relatively well conserved tetrapeptide in these domains). Some PDZs have been shown to bind C-terminal polypeptides" /db_xref="CDD:smart00228" misc_feature 1411..1647 /gene="USH1C" /gene_synonym="AIE-75" /gene_synonym="DFNB18" /gene_synonym="HARMONIN" /gene_synonym="NY-CO-37" /gene_synonym="NY-CO-38" /gene_synonym="PDZ-45" /gene_synonym="PDZ-73" /gene_synonym="PDZ-73/NY-CO-38" /note="PDZ; Region: Domain present in PSD-95, Dlg, and ZO-1/2. Also called DHR (Dlg homologous region) or GLGF (relatively well conserved tetrapeptide in these domains). Some PDZs have been shown to bind C-terminal polypeptides" /db_xref="CDD:smart00228" BASE COUNT 547 a 573 c 636 g 428 t ORIGIN 1 ggcccggtcg cggtcgcggc tctttccagc tcctggcagc cgggcacccg aaggaacggg 61 tcgtgcaacg acgcagctgg acctggccca gccatggacc gaaaagtggc ccgagaattc 121 cggcataagg tggattttct gattgaaaat gatgcagaga aggactatct ctatgatgtg 181 ctgcgaatgt accaccagac catggacgtg gccgtgctcg tgggagacct gaagctggtc 241 atcaatgaac ccagccgtct gcctctgttt gatgccattc ggccgctgat cccactgaag 301 caccaggtgg aatatgatca gctgaccccc cggcgctcca ggaagctgaa ggaggtgcgt 361 ctggaccgtc tgcaccccga aggcctcggc ctgagtgtgc gtggtggcct ggagtttggc 421 tgtgggctct tcatctccca cctcatcaaa ggcggtcagg cagacagcgt cgggctccag 481 gtaggggacg agatcgtccg gatcaatgga tattccatct cctcctgtac ccatgaggag 541 gtcatcaacc tcattcgaac caagaaaact gtgtccatca aagtgagaca catcggcctg 601 atccccgtga aaagctctcc tgatgagccc ctcacttggc agtatgtgga tcagtttgtg 661 tcggaatctg ggggcgtgcg aggcagcctg ggctcccctg gaaatcggga aaacaaggag 721 aagaaggtct tcatcagcct ggtaggctcc cgaggccttg gctgcagcat ttccagcggc 781 cccatccaga agcctggcat ctttatcagc catgtgaaac ctggctccct gtctgctgag 841 gtgggattgg agatagggga ccagattgtc gaagtcaatg gcgtcgactt ctctaacctg 901 gatcacaagg agggccggga gctgttcatg acagaccggg agcggctggc agaggcgcgg 961 cagcgtgagc tgcagcggca ggagcttctc atgcagaagc ggctggcgat ggagtccaac 1021 aagatcctcc aggagcagca ggagatggag cggcaaagga gaaaagaaat tgcccagaag 1081 gcagcagagg aaaatgagag ataccggaag gagatggaac agattgtaga ggaggaagag 1141 aagtttaaga agcaatggga agaagactgg ggctcaaagg aacagctact cttgcctaaa 1201 accatcactg ctgaggtaca cccggtaccc cttcgcaagc caaagtatga tcagggagtg 1261 gaacctgagc tcgagcccgc agatgacctg gatggaggca cggaggagca gggagagcag 1321 gatttccgga aatatgagga aggctttgac ccctactcta tgttcacccc agagcagatc 1381 atggggaagg atgtccggct cctacgcatc aagaaggagg gatccttaga cctggccctg 1441 gaaggcggtg tggactcccc cattgggaag gtggttgttt ctgctgtgta tgagcgggga 1501 gctgctgagc ggcatggtgg cattgtgaaa ggggacgaga tcatggcaat caacggcaag 1561 attgtgacag actacaccct ggctgaggct gacgctgccc tgcagaaggc ctggaatcag 1621 ggcggggact ggatcgacct tgtggttgcc gtctgccccc caaaggagta tgacgatgag 1681 ctgaccttct tctgaagtcc aaaaggggaa accaaattca ccgttaggaa acagtgagct 1741 ccggccccac ctcgtgaaca caaagcctcg gatcagcctt gagagaggcc acactacaca 1801 caccagatgg catccttggg acctgaatct atcacccagg aatctcaaac tccctttggc 1861 cctgaaccag ggccagataa ggaacagctc gggccactct tctgaaggcc aacgtggagg 1921 aaagggagca gccagccatt tgggagaaga tctcaaggat ccagactctc attcctttcc 1981 tctggcccag tgaatttggt ctctcccagc tctgggggac tccttccttg aaccctaata 2041 agaccccact ggagtctctc tctctccatc cctctcctct gccctctgct ctaattgctg 2101 ccaggattgt cactccaaac cttactctga gctcattaat aaaataaaca gatttatttt 2161 ccaaaaaaaa aaaaaaaaaa aaaa //