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
//