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
//