LOCUS AF359281 2469 bp mRNA linear HUM 04-JUN-2001 DEFINITION Homo sapiens Bardet-Biedl syndrome type 4 mRNA, complete cds. ACCESSION AF359281 VERSION AF359281.1 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 2469) AUTHORS Mykytyn,K., Braun,T., Carmi,R., Haider,N.B., Searby,C.C., Shastri,M., Beck,G., Wright,A.F., Iannaccone,A., Elbedour,K., Riise,R., Baldi,A., Raas-Rothschild,A., Gorman,S.W., Duhl,D.M., Jacobson,S.G., Casavant,T., Stone,E.M. and Sheffield,V.C. TITLE Identification of the gene that, when mutated, causes the human obesity syndrome BBS4 JOURNAL Nat. Genet. 28 (2), 188-191 (2001) PUBMED 11381270 REFERENCE 2 (bases 1 to 2469) AUTHORS Mykytyn,K., Braun,T., Carmi,R., Haider,N.B., Searby,C.C., Shastri,M., Beck,G., Wright,A.F., Iannaccone,A., Elbedour,K., Riise,R., Baldi,A., Raas-Rothschild,A., Gorman,S.W., Duhl,D.M., Jacobson,S.G., Casavant,T., Stone,E.M. and Sheffield,V.C. TITLE Direct Submission JOURNAL Submitted (10-MAR-2001) Pediatrics, University of Iowa, 440 EMRB, Iowa City, IA 52242, USA FEATURES Location/Qualifiers source 1..2469 /db_xref="H-InvDB:HIT000078331" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="15" /map="15q22.3-q23" CDS 22..1581 /note="BBS4" /codon_start=1 /product="Bardet-Biedl syndrome type 4" /protein_id="AAK58868.1" /translation="MAEERVATRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYI RKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLEGNIQESLELFQTCAVLSPQSAD NLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHN ALNLNRHDLTYIMLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIY QKAFEHLGNALTYDPTNYKAILAAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNI GMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQ PKMGELYMLLAVALTNLEDTENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNAL AQYQEMEKKVSLLKDNSSLEFDSEMVEMAQKLGAALQVGEALVWTKPVKDPKSKHQTT STSKPASFQQPLGSNQALGQAMSSAAAYRTLPSGAGGTSQFTKPPSLPLEPEPAVESS PTETSEQIREK" BASE COUNT 756 a 543 c 571 g 599 t ORIGIN 1 gcagcggtgg gctgagctaa aatggctgag gagagagtcg cgacgagaac tcaatttcct 61 gtatctactg agtctcaaaa accccggcag aaaaaagctc cagagtttcc tattttggag 121 aagcagaact ggttgattca tcttcattat atccggaaag attatgaagc ctgcaaggct 181 gttatcaaag aacagcttca agagactcag ggattgtgtg aatatgctat ctatgtccaa 241 gcattgatat ttcgcctaga aggaaatatc caagaatccc tagaactctt ccagacatgt 301 gcagttctta gtcctcagag tgctgataac ctcaagcagg tggccagatc tttatttctt 361 ttgggaaaac ataaagctgc cattgaagta tataatgaag cagctaaact caaccagaaa 421 gattgggaga tcagccataa cctaggagtt tgctacatat acctgaagca gttcaacaag 481 gcacaagacc agttgcacaa tgccctgaat cttaataggc acgatctgac ttatataatg 541 ctggggaaga tccacttgct ggagggagac ttggacaagg ccattgaagt ctacaagaaa 601 gcagtggagt tctcaccaga aaatacagag cttcttacaa ctttaggatt actctactta 661 cagctcggca tttaccagaa ggcatttgaa catcttggca atgcactgac ttatgaccct 721 accaactaca aggccatctt ggcagcaggc agcatgatgc agacccacgg ggactttgat 781 gttgccctca ccaaatacag agttgtggct tgtgctgttc cagaaagtcc tccactctgg 841 aataacattg gaatgtgttt ctttggcaag aagaaatatg tggcggccat cagctgcctg 901 aaacgagcca actacttggc acccttcgat tggaagattc tgtataattt gggccttgtc 961 catttgacca tgcagcagta tgcatcagct tttcattttc tcagtgcggc catcaacttc 1021 cagccaaaga tgggggagct ctacatgctc ttggcagtgg ctctgaccaa tctggaagat 1081 acagaaaatg ccaagagagc ctacgcagaa gcagtccacc tggataagtg taacccttta 1141 gtaaacctga actatgctgt gctgctgtac aaccagggcg agaagaagaa cgccctggcc 1201 caatatcagg agatggagaa gaaagtcagc ctactcaagg acaatagctc tctggaattt 1261 gactctgaga tggtggagat ggctcagaag ttgggagctg ctctccaggt tggggaggca 1321 ctggtctgga ccaaaccagt taaagatccc aaatcaaagc accagaccac ttcaaccagc 1381 aaacctgcca gtttccagca gcctctgggc tctaatcaag ctctaggaca ggcaatgtct 1441 tcagcagctg catacaggac gctcccctca ggtgctggag gaacatccca gttcacaaag 1501 cccccatctc ttcctctgga gccagagcct gcggtggaat caagtccaac tgaaacatca 1561 gaacaaataa gagagaaata agaatagaat gaatgacccc aaaatagggt tttcttgggc 1621 gaggatgtgc tggattagga aaggtgacat gacacaggca gagcagagtg gcacccacca 1681 cagaatacag tgtgtgttat tacgaggagc cagcagttga gcctaaggtc cttctaccta 1741 cctggtattg gcatttgagg tcggaaaccc tctactgccc cataagccag gaaaagtgaa 1801 aagagaacac agttccttta agaactggca gcaaggcttg aggccttatg tatgtagctg 1861 agtcagcaag gtacatgatg ctgtctgctt tcaaaaggac ttttctctcc tagctgactg 1921 actccttcct tagttcaagg aacagctgag acagacctct gctgagtagc tctgtgatga 1981 caaagccttg gtttaactga ggtgatcctc aggttgtgag gtttattagt ccccaaggca 2041 aacacaaata ttagattaat aatccaactt taatagtata catttaaaag aaaaaaaaca 2101 aaagccctgg aagttgaggc caagcctgct gagtattgca gctgcatttg cccaaaggga 2161 atccagaaca agtccctccc tgtattttgt tcttgagagg ggtcagtcta gaagctagat 2221 cctatcagga tgaggagcag cagcccaggg cttgtctgga tcagcaccaa cgattttaaa 2281 gaaaaaagga agagtttctt agatgagtaa ttgttattga agatagtcag tgataaccac 2341 tgaccagatg ctatcaatac actatgtgtc ctttttagaa taaagattac atatcatcat 2401 tcctttgggg aaaattgtta ttcaggtata aaaacaagag atcataataa aaacctaaaa 2461 gaacctatg //