LOCUS AY373972 2163 bp mRNA linear HUM 01-SEP-2004
DEFINITION Homo sapiens Bardet-Biedl syndrome 8 (BBS8) mRNA, complete cds.
ACCESSION AY373972
VERSION AY373972.1
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 Smaoui,N., Li,S., Belghith,N., Chaabouni,M., M'Rad,R., Maazoul,F.,
Chaabouni,H. and Hejtmancik,J.F.
TITLE Mutations in BBS8, a novel gene containing TPR motifs causes
Bardet-Biedl syndrome
JOURNAL Unpublished
REFERENCE 2 (bases 1 to 2163)
AUTHORS Smaoui,N., Li,S., Belghith,N., Chaabouni,M., M'Rad,R., Maazoul,F.,
Chaabouni,H. and Hejtmancik,J.F.
TITLE Direct Submission
JOURNAL Submitted (24-AUG-2003) OGVFB, NEI/NIH, 10 Center Dr., Bethesda, MD
20892, USA
FEATURES Location/Qualifiers
source 1..2163
/db_xref="H-InvDB:HIT000253336"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="14"
/map="14q31.3"
gene 1..2163
/gene="BBS8"
CDS 53..1570
/gene="BBS8"
/codon_start=1
/product="Bardet-Biedl syndrome 8"
/protein_id="AAR19043.1"
/translation="MSSEMEPLLLAWSYFRRRKFQLCADLCTQMLEKSPYDQAAWILK
ARALTEMVYIDEIDVDQEGIAEMMLDENAIAQVPRPGTSLKLPGTNQTGGPSQAVRPI
TQAGRPITGFLRPSTQSGRPGTMEQAIRTPRTAYTARPITSSSGRFVRLGTASMLTSP
DGPFINLSRLNLTKYSQKPKLAKALFEYIFHHENDVKTALDLAALSTEHSQYKDWWWK
VQIGKCYYRLGMYREAEKQFKSALKQQEMVDTFLYLAKVYVSLDQPVTALNLFKQGLD
KFPGEVTLLCGIARIYEEMNNMSSAAEYYKEVLKQDNTHVEAIACIGSNHFYSDQPEI
ALRFYRRLLQMGIYNGQLFNNLGLCCFYAQQYDMTLTSFERALSLAENEEEAADVWYN
LGHVAVGIGDTNLAHQCFRLALVNNNNHAEAYNNLAVLEMRKGHVEQARALLQTASSL
APHMYEPHFNFATISDKIGDLQRSYVAAQKSEAAFPDHVDTQHLIKQLRQHFAML"
misc_feature 695..796
/gene="BBS8"
/note="Region: tetratricopeptide repeat; TPR"
misc_feature 896..997
/gene="BBS8"
/note="Region: tetratricopeptide repeat; TPR"
misc_feature 1100..1201
/gene="BBS8"
/note="Region: tetratricopeptide repeat; TPR"
misc_feature 1211..1312
/gene="BBS8"
/note="Region: tetratricopeptide repeat; TPR"
misc_feature 1313..1414
/gene="BBS8"
/note="Region: tetratricopeptide repeat; TPR"
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
//