LOCUS AY366523 2163 bp mRNA linear HUM 25-OCT-2003 DEFINITION Homo sapiens Bardet-Biedl 8 protein isoform 1 mRNA, complete cds, alternatively spliced. ACCESSION AY366523 VERSION AY366523.1 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 2163) AUTHORS Ansley,S.J., Badano,J.L., Blacque,O.E., Hill,J., Hoskins,B.E., Leitch,C.C., Kim,J.C., Ross,A.J., Eichers,E.R., Teslovich,T.M., Mah,A.K., Johnsen,R.C., Cavender,J.C., Lewis,R.A., Leroux,M.R., Beales,P.L. and Katsanis,N. TITLE Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome JOURNAL Nature 425 (6958), 628-633 (2003) PUBMED 14520415 REFERENCE 2 (bases 1 to 2163) AUTHORS Ansley,S.J., Badano,J.L., Blacque,O.E., Hill,J., Hoskins,B.E., Leitch,C.C., Kim,J.C., Ross,A.J., Eichers,E.R., Teslovich,T.M., Mah,A.K., Johnsen,R.C., Cavender,J.C., Lewis,R.A., Leroux,M.R., Beales,P.L. and Katsanis,N. TITLE Direct Submission JOURNAL Submitted (13-AUG-2003) Institute of Genetic Medicine, Johns Hopkins University, 600 North Wolfe Street, Baltimore, MD 21287, USA FEATURES Location/Qualifiers source 1..2163 /db_xref="H-InvDB:HIT000253270" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="14" /map="14q32.11" CDS 53..1570 /note="alternatively spliced" /codon_start=1 /product="Bardet-Biedl 8 protein isoform 1" /protein_id="AAR02192.1" /translation="MSSEMEPLLLAWSYFRRRKFQLCADLCTQMLEKSPYDQAAWILK ARALTEMVYIDEIDVDQEGIAEMMLDENAIAQVPRPGTSLKLPGTNQTGGPSQAVRPI TQAGRPITGFLRPSTQSGRPGTMEQAIRTPRTAYTARPITSSSGRFVRLGTASMLTSP DGPFINLSRLNLTKYSQKPKLAKALFEYIFHHENDVKTALDLAALSTEHSQYKDWWWK VQIGKCYYRLGMYREAEKQFKSALKQQEMVDTFLYLAKVYVSLDQPVTALNLFKQGLD KFPGEVTLLCGIARIYEEMNNMSSAAEYYKEVLKQDNTHVEAIACIGSNHFYSDQPEI ALRFYRRLLQMGIYNGQLFNNLGLCCFYAQQYDMTLTSFERALSLAENEEEAADVWYN LGHVAVGIGDTNLAHQCFRLALVNNNNHAEAYNNLAVLEMRKGHVEQARALLQTASSL APHMYEPHFNFATISDKIGDLQRSYVAAQKSEAAFPDHVDTQHLIKQLRQHFAML" BASE COUNT 665 a 439 c 471 g 588 t ORIGIN 1 acgcccacct ctctcctgga gcgctgggcc ttcgctggcc gcaccggcag ccatgagctc 61 ggagatggag ccgctgctcc tggcctggag ctattttagg cgcaggaagt tccagctctg 121 cgccgatcta tgcacgcaga tgctggagaa gtccccttat gaccaggcag cttggatctt 181 aaaagcaaga gcgctaacag aaatggtata catagatgaa attgatgtag atcaggaagg 241 aattgcagaa atgatgctgg atgaaaatgc tatagctcaa gttccacgcc ctggaacgtc 301 tttgaaactc cctggaacta atcagacagg agggcctagc caggccgtta ggccaatcac 361 acaagctgga agacccatta caggtttcct caggcccagc acgcagagtg gaaggccagg 421 cactatggaa caggctatca gaacacccag aaccgcctac acagcccgcc ctatcaccag 481 ctcctccgga agatttgtca ggctgggaac ggcttccatg cttacaagtc ctgatggacc 541 atttataaat ttatctaggc tgaatttaac aaagtattcc cagaaaccta agttggcaaa 601 ggctttgttt gagtatatct ttcatcatga aaatgatgtt aagactgctt tggatctggc 661 tgccctctcc acagaacatt ctcagtacaa ggactggtgg tggaaagtac agattggaaa 721 atgttactac aggttgggaa tgtatcgtga agcagaaaaa cagtttaaat cagccctgaa 781 gcagcaggaa atggtagata catttctgta cttggcaaaa gtttatgtct cattggatca 841 acctgtgact gctttaaatc ttttcaaaca aggcttagat aagtttccag gagaagtaac 901 cctgctctgt ggaattgcaa gaatctatga ggaaatgaac aatatgtcat cagcagcaga 961 atattacaaa gaagttttga aacaagacaa tactcatgtg gaagccatcg catgcattgg 1021 aagcaaccac ttctattctg atcagccaga aatagctctc cggttttaca ggcggctgct 1081 gcagatgggc atttataacg gccagctttt taacaatctg gggctgtgtt gcttctatgc 1141 ccagcagtat gatatgactc tgacctcatt tgaacgtgcc ctttctttgg ctgaaaatga 1201 agaagaggca gctgatgtct ggtacaactt gggacatgta gctgtgggaa taggagatac 1261 aaatttggcc catcagtgct tcaggctggc tctggtcaac aacaacaacc acgccgaggc 1321 ctacaacaac ctggctgtgc tggagatgcg gaagggccac gttgaacagg caagggcact 1381 attacaaact gcatcatcat tagcacccca tatgtatgaa ccgcatttta attttgcaac 1441 aatctctgat aagattggag atctgcagag aagctatgtt gctgcgcaga agtctgaagc 1501 agcatttcca gaccatgtgg acacacaaca tttaattaaa caattaaggc agcattttgc 1561 tatgctctga ttgttcctta gaccacatat gttcttatga agcagcatta tgcaagggga 1621 aaaaagcact atgtctgtgt atgtatgtat atagtgtaat acgtatattt taacaaacct 1681 gtccttgata ttagttaagg tgacacataa gggtgacaca gaatgtgtaa tgcaaatttc 1741 atagtaatag taactttata aaataatatt ataaaataca ggatttaaac ctttctaaat 1801 agatcctgaa actgtctctc acattatata gtagatgttt gtttataatg tttacaaaac 1861 attttggtga atttcctcaa tgttttataa atgtacattt tttaagtcct taagctgact 1921 cttagccatc atgtagctta aggagtctga aatctgccat taaaactgca cctttaagcc 1981 aggtgtggta gcatgtgcct atagtcccag ctacttggga ggtggaggtg ggaggattat 2041 aaatagagac tttccttaag actttaaaaa tgtatttaaa actatttttt attaaatact 2101 ttgtgatttc ctattaagct ttaaaataaa tcattgtgta aaacaccaaa aaaaaaaaaa 2161 aaa //