LOCUS AF503941 3370 bp mRNA linear HUM 07-AUG-2002
DEFINITION Homo sapiens Bardet-Biedl syndrome 1 (BBS1) mRNA, complete cds.
ACCESSION AF503941
VERSION AF503941.1
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 3370)
AUTHORS Mykytyn,K., Nishimura,D.Y., Searby,C.C., Shastri,M., Yen,H.J.,
Beck,J.S., Braun,T., Streb,L.M., Cornier,A.S., Cox,G.F.,
Fulton,A.B., Carmi,R., Luleci,G., Chandrasekharappa,S.C.,
Collins,F.S., Jacobson,S.G., Heckenlively,J.R., Weleber,R.G.,
Stone,E.M. and Sheffield,V.C.
TITLE Identification of the gene (BBS1) most commonly involved in
Bardet-Biedl syndrome, a complex human obesity syndrome
JOURNAL Nat. Genet. 31 (4), 435-438 (2002)
PUBMED 12118255
REFERENCE 2 (bases 1 to 3370)
AUTHORS Mykytyn,K., Nishimura,D.Y., Searby,C.C., Shastri,M., Yen,H.,
Beck,J.S., Braun,T., Streb,L.M., Cornier,A.S., Cox,G.F.,
Fulton,A.B., Carmi,R., Luleci,G., Chandrasekharappa,S.C.,
Collins,F.S., Jacobson,S.G., Heckenlively,J.R., Weleber,R.G.,
Stone,E.M. and Sheffield,V.C.
TITLE Direct Submission
JOURNAL Submitted (18-APR-2002) Pediatrics, University of Iowa, 4181 MEBRF,
Iowa City, IA 52242, USA
FEATURES Location/Qualifiers
source 1..3370
/db_xref="H-InvDB:HIT000080974"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q13"
gene 1..3370
/gene="BBS1"
CDS 13..1794
/gene="BBS1"
/codon_start=1
/product="Bardet-Biedl syndrome 1"
/protein_id="AAM92770.1"
/translation="MAAASSSDSDACGAESNEANSKWLDAHYDPMANIHTFSACLALA
DLHGDGEYKLVVGDLGPGGQQPRLKVLKGPLVMTESPLPALPAAAATFLMEQHEPRTP
ALALASGPCVYVYKNLRPYFKFSLPQLPPNPLEQDLWNQAKEDRIDPLTLKEMLESIR
ETAEEPLSIQSLRFLQLELSEMEAFVNQHKSNSIKRQTVITTMTTLKKNLADEDAVSC
LVLGTENKELLVLDPEAFTILAKMSLPSVPVFLEVSGQFDVEFRLAAACRNGNIYILR
RDSKHPKYCIELSAQPVGLIRVHKVLVVGSTQDSLHGFTHKGKKLWTVQMPAAILTMN
LLEQHSRGLQAVMAGLANGEVRIYRDKALLNVIHTPDAVTSLCFGRYGREDNTLIMTT
RGGGLIIKILKRTAVFVEGGSEVGPPPAQAMKLNVPRKTRLYVDQTLREREAGTAMHR
AFQTDLYLLRLRAARAYLQALESSLSPLSTTAREPLKLHAVVQGLGPTFKLTLHLQNT
STTRPVLGLLVCFLYNEALYSLPRAFFKVPLLVPGLNYPLETFVESLSNKGISDIIKV
LVLREGQSAPLLSAHVNMPGSEGLAAA"
BASE COUNT 799 a 985 c 865 g 721 t
ORIGIN
1 acgcctgcga agatggccgc tgcgtcctca tcggattccg acgcctgcgg agctgagagc
61 aatgaggcca attcgaagtg gttggatgcg cactacgacc caatggccaa tatccacacc
121 ttttctgcct gcctagcgct ggcagattta catggggatg gggaatacaa gctggtggta
181 ggggaccttg gccctggtgg gcagcagccc cgcctgaagg tgctcaaagg accactggtg
241 atgaccgaaa gcccgctacc tgctctgcca gctgctgctg ccaccttcct catggagcaa
301 catgagcccc ggaccccagc tctggcactt gcttcaggcc cttgtgtcta tgtgtataag
361 aatctcagac cctacttcaa gttcagcctg ccccaattgc ctccaaatcc tctggaacaa
421 gacctttgga accaggccaa agaggaccga atcgacccct taaccctgaa ggagatgctg
481 gagagcatcc gggagacggc agaggagcct ttgtccatcc agtcactcag gtttctgcag
541 ctggagctaa gtgaaatgga ggcatttgta aaccaacaca agtccaactc catcaagcgg
601 cagacagtca tcaccaccat gaccaccttg aagaagaacc tggctgacga ggatgctgtg
661 tcttgcctgg tgctgggcac cgagaacaag gagctcctgg tgcttgaccc cgaggccttc
721 accattttag ccaagatgag ccttcccagc gtccccgtct tcctagaggt ttctggccag
781 tttgatgttg agttccggct tgccgcggcc tgccgcaatg gaaacatcta tattctgaga
841 agagactcca agcaccccaa gtactgcatc gagctgagcg cccagcctgt gggacttatc
901 cgggtacaca aggtcctagt ggtgggcagc acccaagaca gcctgcatgg cttcacccac
961 aaggggaaga agctgtggac agtgcagatg cccgcagcca tcctgaccat gaacctcctg
1021 gagcagcatt cccggggcct gcaggccgtc atggctgggc tggccaatgg agaggtccgc
1081 atttatcgtg acaaggccct gctcaatgtc atccacaccc cggatgcagt gaccagcctt
1141 tgctttggcc ggtacgggcg ggaggacaac accctcatca tgaccactcg aggtggtggc
1201 ctgatcatca agatcctgaa gcgtacagca gtgtttgtag agggaggaag tgaggtgggt
1261 cccccaccag cccaggccat gaaactcaat gtgccccgaa agacccggct ttacgtggat
1321 cagacactgc gagagcggga ggctggcacc gccatgcacc gggccttcca gacagaccta
1381 tacctgctgc gcctacgtgc tgcccgcgcc tacctgcagg ccctcgagtc cagcctgagc
1441 cccctgtcca cgacagcccg agagccactc aagctgcacg ccgtggttca gggccttggc
1501 cccaccttta agctcacact tcacctgcag aacacctcaa caacccgtcc tgtcctgggg
1561 ctgctggtct gcttcctgta caacgaggcg ctctattccc tgccccgggc cttcttcaag
1621 gtacccttgc tggtgccagg gctcaactac cccctggaga cctttgtgga gagtctcagt
1681 aacaagggca tctcagacat catcaaggtg ctggtgcttc gagaaggcca aagtgcaccc
1741 ctgctgagtg cccacgtcaa catgcctggg agcgaggggc tggcggccgc ctgagacctg
1801 agctgctgtg aaagcccctg cacaatcagc cagggagaac tgggcgggtt tagtggcccc
1861 aggcccactc ctcatgcagc agtgtgctgg ggcgacagct cgtctcccct ctcttaagca
1921 cccgcttcct caccaccccc actgttgggc ctatagtagc aggttagtga gtacctaggg
1981 cggctcaact cctcccacag caccaaccca gcatggtccc actgaagtcc tactacgccc
2041 tcccctcccc agccttttcc agaaaccata ctgggctcag atcagagctc cgaagcggtc
2101 aaagtgagct gagcaggaca ggcccagcct ttctccactg ccacgtccct catgcacatc
2161 actcatctcc tgctgcaggc caaggccaaa attgggctag tcctggccag ggaaatcaga
2221 agctcttctt gggtgagatt gagcctcctg ttgctccctg gagttccgga ggctgggctg
2281 cagcccactc agcttgcggg caaaatacgt gctctcctct ctccttgtca gctgagcaaa
2341 cccagggaat agccctcctc tccccaggaa acttctctga aatcttagac ttagccagtc
2401 ttaggcctac gatgccacac aaaggttgtt cagggagaag ggggtgcagg aggcagaggg
2461 tgccccgcag ggagctggtg gctccagccc cactagagct cctaaagatc acacagcagc
2521 tgctcctgac agggatgctc atgcccagaa agcaagccca ggagaggaag gcagagtgtg
2581 acagagcaga gccagggcca ggcgcaccag gagaggcgtt tctggggctc cagagaagtg
2641 ccacgggagg cagaagtcca gaactgccca tatagatgcc cttctacatc ctggagccca
2701 aatcagtcat gtgggtggga agttcccagg gcagtggtca catcgtgaaa attagcagga
2761 aaggcggggc ctttcttgtc atagctattt ctgaggatga aatgggagac atatgcccag
2821 cacctgatgt aagtttatat aatgtaatat tatgtaccta ccactaagaa atacatgaac
2881 cgtgccatga ggacagtaag tgttcataaa gcaacatgaa gcaagaaaca gtgcagggtg
2941 cccagtgcac acactagaga gaaattgtga acattaagga caaggagaat tggtgtcttt
3001 ctaaaacata cttatttaaa aacacatacc cacttactaa tgtggaatta cacagtttgt
3061 aacaagaaaa cagtctctcc cattctctag tactgctccc ctacccagca gtcacttcca
3121 gttcattcag ctatttttaa aatgtgctta tatgactctt gcttgatata tcaatcttag
3181 acattacctg ttgactccct gttgtcatac atgaggcttt agctctcttt tgtcagcaac
3241 cctcccccat ccctagttat taggttaaaa aatactcaga ttactatttc tattactatg
3301 tgaaagttaa ctgcggagcc aagagttgga ctataattaa attaccttcc ttgtactttc
3361 tttttaatgg
//