LOCUS AY366524 2073 bp mRNA linear HUM 25-OCT-2003 DEFINITION Homo sapiens Bardet-Biedl 8 protein isoform 2 mRNA, complete cds, alternatively spliced. ACCESSION AY366524 VERSION AY366524.1 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 2073) 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 2073) AUTHORS Ansley,S.J., Badano,J.L., Blacque,O.E., Hill,J., Hoskins,B.E., Leitch,C.C., Kim,J.C., Ross,A.J., Teslovich,T.M., Eichers,E.R., 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..2073 /db_xref="H-InvDB:HIT000253271" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="14" /map="14q32.11" CDS 53..1480 /note="alternatively spliced" /codon_start=1 /product="Bardet-Biedl 8 protein isoform 2" /protein_id="AAR02193.1" /translation="MSSEMEPLLLAWSYFRRRKFQLCADLCTQMLEKSPYDQAAWILK ARALTEMVYIDEIDVDQEGIAEMMLDENAIAQVPRPGTSLKLPGTNQTGGPSQAVRPI TQAGRPITGFLRPSTQSGRPGTMEQAIRTPRTAYTARPITSSSGRFVRLGTALFEYIF HHENDVKTALDLAALSTEHSQYKDWWWKVQIGKCYYRLGMYREAEKQFKSALKQQEMV DTFLYLAKVYVSLDQPVTALNLFKQGLDKFPGEVTLLCGIARIYEEMNNMSSAAEYYK EVLKQDNTHVEAIACIGSNHFYSDQPEIALRFYRRLLQMGIYNGQLFNNLGLCCFYAQ QYDMTLTSFERALSLAENEEEAADVWYNLGHVAVGIGDTNLAHQCFRLALVNNNNHAE AYNNLAVLEMRKGHVEQARALLQTASSLAPHMYEPHFNFATISDKIGDLQRSYVAAQK SEAAFPDHVDTQHLIKQLRQHFAML" BASE COUNT 635 a 421 c 456 g 561 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 ggctttgttt gagtatatct ttcatcatga 541 aaatgatgtt aagactgctt tggatctggc tgccctctcc acagaacatt ctcagtacaa 601 ggactggtgg tggaaagtac agattggaaa atgttactac aggttgggaa tgtatcgtga 661 agcagaaaaa cagtttaaat cagccctgaa gcagcaggaa atggtagata catttctgta 721 cttggcaaaa gtttatgtct cattggatca acctgtgact gctttaaatc ttttcaaaca 781 aggcttagat aagtttccag gagaagtaac cctgctctgt ggaattgcaa gaatctatga 841 ggaaatgaac aatatgtcat cagcagcaga atattacaaa gaagttttga aacaagacaa 901 tactcatgtg gaagccatcg catgcattgg aagcaaccac ttctattctg atcagccaga 961 aatagctctc cggttttaca ggcggctgct gcagatgggc atttataacg gccagctttt 1021 taacaatctg gggctgtgtt gcttctatgc ccagcagtat gatatgactc tgacctcatt 1081 tgaacgtgcc ctttctttgg ctgaaaatga agaagaggca gctgatgtct ggtacaactt 1141 gggacatgta gctgtgggaa taggagatac aaatttggcc catcagtgct tcaggctggc 1201 tctggtcaac aacaacaacc acgccgaggc ctacaacaac ctggctgtgc tggagatgcg 1261 gaagggccac gttgaacagg caagggcact attacaaact gcatcatcat tagcacccca 1321 tatgtatgaa ccgcatttta attttgcaac aatctctgat aagattggag atctgcagag 1381 aagctatgtt gctgcgcaga agtctgaagc agcatttcca gaccatgtgg acacacaaca 1441 tttaattaaa caattaaggc agcattttgc tatgctctga ttgttcctta gaccacatat 1501 gttcttatga agcagcatta tgcaagggga aaaaagcact atgtctgtgt atgtatgtat 1561 atagtgtaat acgtatattt taacaaacct gtccttgata ttagttaagg tgacacataa 1621 gggtgacaca gaatgtgtaa tgcaaatttc atagtaatag taactttata aaataatatt 1681 ataaaataca ggatttaaac ctttctaaat agatcctgaa actgtctctc acattatata 1741 gtagatgttt gtttataatg tttacaaaac attttggtga atttcctcaa tgttttataa 1801 atgtacattt tttaagtcct taagctgact cttagccatc atgtagctta aggagtctga 1861 aatctgccat taaaactgca cctttaagcc aggtgtggta gcatgtgcct atagtcccag 1921 ctacttggga ggtggaggtg ggaggattat aaatagagac tttccttaag actttaaaaa 1981 tgtatttaaa actatttttt attaaatact ttgtgatttc ctattaagct ttaaaataaa 2041 tcattgtgta aaacaccaaa aaaaaaaaaa aaa //