LOCUS BC103898 1338 bp mRNA linear HUM 04-OCT-2006 DEFINITION Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin), mRNA (cDNA clone MGC:119283 IMAGE:40005137), complete cds. ACCESSION BC103898 VERSION BC103898.1 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 1338) 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. CONSRTM Mammalian Gene Collection Program Team 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 1338) CONSRTM NIH MGC Project TITLE Direct Submission JOURNAL Submitted (07-SEP-2005) National Institutes of Health, Mammalian Gene Collection (MGC), 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: Baylor Human Genome Sequencing Center cDNA Library Preparation: Baylor Human Genome Sequencing Center cDNA Library Arrayed by: The I.M.A.G.E. Consortium (LLNL) DNA Sequencing by: Sequencing Group at the Stanford Human Genome Center, Stanford University School of Medicine, Stanford, CA 94305 Web site: http://www-shgc.stanford.edu Contact: (Dickson, Mark) mcd@paxil.stanford.edu Dickson, M., Schmutz, J., Grimwood, J., Rodriquez, A., and Myers, R. M. Clone distribution: MGC clone distribution information can be found through the I.M.A.G.E. Consortium/LLNL at: http://image.llnl.gov Series: IRAM Plate: 5 Row: g Column: 4. FEATURES Location/Qualifiers source 1..1338 /db_xref="H-InvDB:HIT000337450" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /clone="MGC:119283 IMAGE:40005137" /tissue_type="PCR rescued clones" /clone_lib="NIH_MGC_283" /note="Vector: pCR-Blunt II-TOPO with reversed insert; Clone identification sequence tag: GGTCTATA sequenced from the forward primer" gene 1..1338 /gene="BSND" /gene_synonym="BART" /db_xref="GeneID:7809" /db_xref="HGNC:HGNC:16512" /db_xref="MIM:606412" CDS 223..1185 /gene="BSND" /gene_synonym="BART" /codon_start=1 /product="Bartter syndrome, infantile, with sensorineural deafness (Barttin)" /protein_id="AAI03899.1" /db_xref="GeneID:7809" /db_xref="HGNC:HGNC:16512" /db_xref="MIM:606412" /translation="MADEKTFRIGFIVLGLFLLALGTFLMSHDRPQVYGTFYAMGSVM VIGGIIWSMCQCYPKITFVPADSDFQGILSPKAMGLLENGLAAEMKSPSPQPPYVRLW EEAAYDQSLPDFSHIQMKVMSYSEDHRSLLAPEMGQPKLGTSDGGEGGPGDVQAWMEA AVVIHKGSDESEGERRLTQSWPGPLACPQGPAPLASFQDDLDMDSSEGSSPNASPHDR EEACSPQQEPQGCRCPLDRFQDFALIDAPTLEDEPQEGQQWEIALPNNWQRYPRTKVE EKEASDTGGEEPEKEEEDLYYGLPDGAGDLLPDKELGFEPDTQG" BASE COUNT 281 a 373 c 420 g 264 t ORIGIN 1 ggctgggtgt gggtccgttg aagcgagccg cctccagccc tgttgaactg gtgggcccag 61 ggactggagc gggattgaaa gggatcttgc tctcccttga agcctcgagt tgcagcgatt 121 tcagtgtctt ctctccctgt gtaagcctgt ctgggtgttt aggctgaact acagccaccc 181 cctctcccgg gggtgtgcag gccagggact ggccaggcag ccatggctga cgagaagacc 241 ttccggatcg gcttcattgt gctggggctt ttcctgctgg ccctcggtac gttcctcatg 301 agccatgatc ggccccaggt ctacggcacc ttctatgcca tgggcagcgt catggtgatc 361 gggggcatca tctggagcat gtgccagtgc taccccaaga tcaccttcgt ccctgctgac 421 tctgactttc aaggcatcct ctccccaaag gccatgggcc tgctggagaa tgggcttgct 481 gccgagatga agagccccag tccccagccg ccctatgtaa ggctgtggga ggaagccgcc 541 tatgaccaga gcctgcctga cttcagccac atccagatga aagtcatgag ctacagtgag 601 gaccaccgct ccttgctggc ccctgagatg gggcagccga agctgggaac cagtgatgga 661 ggagaaggtg gccctggcga cgttcaggcc tggatggagg ctgccgtggt catccacaag 721 ggctcagacg agagtgaagg ggaaagacgc ctaactcaga gctggcccgg ccccctggcc 781 tgtccccagg gccctgcccc cttggcttcc ttccaagatg acctggacat ggactccagt 841 gaaggcagca gccccaatgc atctccacat gacagggagg aagcttgttc cccacaacag 901 gaacctcagg gctgcaggtg cccgctggac cgcttccaag actttgccct gattgatgcc 961 ccaacgttgg aggatgagcc ccaagagggg cagcagtggg aaatagccct gcccaacaac 1021 tggcagcggt acccaaggac aaaggtggag gagaaggagg cttcggacac aggtggggag 1081 gaacctgaga aggaagagga agacctgtac tatgggctgc cagatggagc cggggacctc 1141 ctcccggaca aggagctggg ttttgagcct gacacccaag gctgagatgt ttgtgctccg 1201 tagcttctag tctggaactg ctgctgaccc ctgtgtgaca tcacagggcc tcagtttccc 1261 tatctgcaaa atgggatgat atggaggttc aatgagatgg tggcattttg agaatggtaa 1321 agaaatacac agggaggg //