LOCUS AF091582 4776 bp mRNA linear HUM 14-NOV-1998 DEFINITION Homo sapiens bile salt export pump (BSEP) mRNA, complete cds. ACCESSION AF091582 VERSION AF091582.1 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 4776) AUTHORS Strautnieks,S., Bull,L., Knisely,A., Kocoshis,S., Dahl,N., Arnell,H., Sokal,E., Dahan,K., Childs,S., Ling,V., Tanner,M., Kagalwalla,A., Nemeth,A., Pawlowska,J., Baker,A., Mieli-Vergani,G., Freimer,N., Gardiner,R. and Thompson,R. TITLE A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis JOURNAL Nat. Genet. 20 (3), 233-238 (1998) PUBMED 9806540 REFERENCE 2 (bases 1 to 4776) AUTHORS Strautnieks,S.S., Gardiner,R.M. and Thompson,R.J. TITLE Direct Submission JOURNAL Submitted (14-SEP-1998) Paediatrics, University College London Medical School, University Street, London WC1E 6JJ, UK FEATURES Location/Qualifiers source 1..4776 /db_xref="H-InvDB:HIT000068332" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2q24" gene 1..4776 /gene="BSEP" CDS 127..4092 /gene="BSEP" /codon_start=1 /product="bile salt export pump" /protein_id="AAC77455.1" /translation="MSDSVILRSIKKFGEENDGFESDKSYNNDKKSRLQDEKKGDGVR VGFFQLFRFSSSTDIWLMFVGSLCAFLHGIAQPGVLLIFGTMTDVFIDYDVELQELQI PGKACVNNTIVWTNSSLNQNMTNGTRCGLLNIESEMIKFASYYAGIAVAVLITGYIQI CFWVIAAARQIQKMRKFYFRRIMRMEIGWFDCNSVGELNTRFSDDINKINDAIADQMA LFIQRMTSTICGFLLGFFRGWKLTLVIISVSPLIGIGAATIGLSVSKFTDYELKAYAK AGVVADEVISSMRTVAAFGGEKREVERYEKNLVFAQRWGIRKGIVMGFFTGFVWCLIF LCYAVAFWYGSTLVLDEGEYTPGTLVQIFLSVIVGALNLGNASPCLEAFATGRAAATS IFETIDRKPIIDCMSEDGYKLDRIKGEIEFHNVTFHYPSRPEVKILNDLNMVIKPGEM TALVGPSGAGKSTALQLIQRFYDPCEGMVTVDGHDIRSLNIQWLRDQIGIVEQEPVLF STTIAENIRYGREDATMEDIVQAAKEANAYNFIMDLPQQFDTLVGEGGGQMSGGQKQR VAIARALIRNPKILLLDMATSALDNESEAMVQEVLSKIQHGHTIISVAHRLSTVRAAD TIIGFEHGTAVERGTHEELLERKGVYFTLVTLQSQGNQALNEEDIKDATEDDMLARTF SRGSYQDSLRASIRQRSKSQLSYLVHEPPLAVVDHKSTYEEDRKDKDIPVQEEVEPAP VRRILKFSAPEWPYMLVGSVGAAVNGTVTPLYAFLFSQILGTFSIPDKEEQRSQINGV CLLFVAMGCVSLFTQFLQGYAFAKSGELLTKRLRKFGFRAMLGQDIAWFDDLRNSPGA LTTRLATDASQVQGAAGSQIGMIVNSFTNVTVAMIIAFSFSWKLSLVILCFFPFLALS GATQTRMLTGFASRDKQALEMVGQITNEALSNIRTVAGIGKERRFIEALETELEKPFK TAIQKANIYGFCFAFAQCIMFIANSASYRYGGYLISNEGLHFSYVFRVISAVVLSATA LGRAFSYTPSYAKAKISAARFFQLLDRQPPISVYNTAGEKWDNFQGKIDFVDCKFTYP SRPDSQVLNGLSVSISPGQTLAFVGSSGCGKSTSIQLLERFYDPDQGKVMIDGHDSKK VNVQFLRSNIGIVSQEPVLFACSIMDNIKYGDNTKEIPMERVIAAAKQAQLHDFVMSL PEKYETNVGSQGSQLSRGEKQRIAIARAIVRDPKILLLDEATSALDTESEKTVQVALD KAREGRTCIVIAHRLSTIQNADIIAVMAQGVVIEKGTHEELMAQKGAYYKLVTTGSPI S" BASE COUNT 1345 a 974 c 1162 g 1278 t ORIGIN 1 gaatgatgaa aaccgaggtt ggaaaaggtt gtgaaacctt ttaactctcc acagtggagt 61 ccattatttc ctctggcttc ctcaaattca tattcacagg gtcgttggct gtgggttgca 121 attaccatgt ctgactcagt aattcttcga agtataaaga aatttggaga ggagaatgat 181 ggttttgagt cagataaatc atataataat gataagaaat caaggttaca agatgagaag 241 aaaggtgatg gcgttagagt tggcttcttt caattgtttc ggttttcttc atcaactgac 301 atttggctga tgtttgtggg aagtttgtgt gcatttctcc atggaatagc ccagccaggc 361 gtgctactca tttttggcac aatgacagat gtttttattg actacgacgt tgagttacaa 421 gaactccaga ttccaggaaa agcatgtgtg aataacacca ttgtatggac taacagttcc 481 ctcaaccaga acatgacaaa tggaacacgt tgtgggttgc tgaacatcga gagcgaaatg 541 atcaaatttg ccagttacta tgctggaatt gctgtcgcag tacttatcac aggatatatt 601 caaatatgct tttgggtcat tgccgcagct cgtcagatac agaaaatgag aaaattttac 661 tttaggagaa taatgagaat ggaaataggg tggtttgact gcaattcagt gggggagctg 721 aatacaagat tctctgatga tattaataaa atcaatgatg ccatagctga ccaaatggcc 781 cttttcattc agcgcatgac ctcgaccatc tgtggtttcc tgttgggatt tttcaggggt 841 tggaaactga ccttggttat tatttctgtc agccctctca ttgggattgg agcagccacc 901 attggtctga gtgtgtccaa gtttacggac tatgagctga aggcctatgc caaagcaggg 961 gtggtggctg atgaagtcat ttcatcaatg agaacagtgg ctgcttttgg tggtgagaaa 1021 agagaggttg aaaggtatga gaaaaatctt gtgttcgccc agcgttgggg aattagaaaa 1081 ggaatagtga tgggattctt tactggattc gtgtggtgtc tcatcttttt gtgttatgca 1141 gtggccttct ggtacggctc cacacttgtc ctggatgaag gagaatatac accaggaacc 1201 cttgtccaga ttttcctcag tgtcatagta ggagctttaa atcttggcaa tgcctctcct 1261 tgtttggaag cctttgcaac tggacgtgca gcagccacca gcatttttga gacaatagac 1321 aggaaaccca tcattgactg catgtcagaa gatggttaca agttggatcg aatcaagggt 1381 gaaattgaat tccataatgt gaccttccat tatccttcca gaccagaggt gaagattcta 1441 aatgacctca acatggtcat taaaccaggg gaaatgacag ctctggtagg acccagtgga 1501 gctggaaaaa gtacagcact gcaactcatt cagcgattct atgacccctg tgaaggaatg 1561 gtgaccgtgg atggccatga cattcgctct cttaacattc agtggcttag agatcagatt 1621 gggatagtgg agcaagagcc agttctgttc tctaccacca ttgcagaaaa tattcgctat 1681 ggcagagaag atgcaacaat ggaagacata gtccaagctg ccaaggaggc caatgcctac 1741 aacttcatca tggacctgcc acagcaattt gacacccttg ttggagaagg aggaggccag 1801 atgagtggtg gccagaaaca aagggtagct atcgccagag ccctcatccg aaatcccaag 1861 attctgcttt tggacatggc cacctcagct ctggacaatg agagtgaagc catggtgcaa 1921 gaagtgctga gtaagattca gcatgggcac acaatcattt cagttgctca tcgcttgtct 1981 acggtcagag ctgcagatac catcattggt tttgaacatg gcactgcagt ggaaagaggg 2041 acccatgaag aattactgga aaggaaaggt gtttacttca ctctagtgac tttgcaaagc 2101 cagggaaatc aagctcttaa tgaagaggac ataaaggatg caactgaaga tgacatgctt 2161 gcgaggacct ttagcagagg gagctaccag gatagtttaa gggcttccat ccggcaacgc 2221 tccaagtctc agctttctta cctggtgcac gaacctccat tagctgttgt agatcataag 2281 tctacctatg aagaagatag aaaggacaag gacattcctg tgcaggaaga agttgaacct 2341 gccccagtta ggaggattct gaaattcagt gctccagaat ggccctacat gctggtaggg 2401 tctgtgggtg cagctgtgaa cgggacagtc acacccttgt atgccttttt attcagccag 2461 attcttggga ctttttcaat tcctgataaa gaggaacaaa ggtcacagat caatggtgtg 2521 tgcctacttt ttgtagcaat gggctgtgta tctcttttca cccaatttct acagggatat 2581 gcctttgcta aatctgggga gctcctaaca aaaaggctac gtaaatttgg tttcagggca 2641 atgctggggc aagatattgc ctggtttgat gacctcagaa atagccctgg agcattgaca 2701 acaagacttg ctacagatgc ttcccaagtt caaggggctg ccggctctca gatcgggatg 2761 atagtcaatt ccttcactaa cgtcactgtg gccatgatca ttgccttctc ctttagctgg 2821 aagctgagcc tggtcatctt gtgcttcttc cccttcttgg ctttatcagg agccacacag 2881 accaggatgt tgacaggatt tgcctctcga gataagcagg ccctggagat ggtgggacag 2941 attacaaatg aagccctcag taacatccgc actgttgctg gaattggaaa ggagaggcgg 3001 ttcattgaag cacttgagac tgagctggag aagcccttca agacagccat tcagaaagcc 3061 aatatttacg gattctgctt tgcctttgcc cagtgcatca tgtttattgc gaattctgct 3121 tcctacagat atggaggtta cttaatctcc aatgaggggc tccatttcag ctatgtgttc 3181 agggtgatct ctgcagttgt actgagtgca acagctcttg gaagagcctt ctcttacacc 3241 ccaagttatg caaaagctaa aatatcagct gcacgctttt ttcaactgct ggaccgacaa 3301 cccccaatca gtgtatacaa tactgcaggt gaaaaatggg acaacttcca ggggaagatt 3361 gattttgttg attgtaaatt tacatatcct tctcgacctg actcgcaagt tctgaatggt 3421 ctctcagtgt cgattagtcc agggcagaca ctggcgtttg ttgggagcag tggatgtggc 3481 aaaagcacta gcattcagct gttggaacgt ttctatgatc ctgatcaagg gaaggtgatg 3541 atagatggtc atgacagcaa aaaagtaaat gtccagttcc tccgctcaaa cattggaatt 3601 gtttcccagg aaccagtgtt gtttgcctgt agcataatgg acaatatcaa gtatggagac 3661 aacaccaaag aaattcccat ggaaagagtc atagcagctg caaaacaggc tcagctgcat 3721 gattttgtca tgtcactccc agagaaatat gaaactaacg ttgggtccca ggggtctcaa 3781 ctctctagag gggagaaaca acgcattgct attgctcggg ccattgtacg agatcctaaa 3841 atcttgctac tagatgaagc cacttctgcc ttagacacag aaagtgaaaa gacggtgcag 3901 gttgctctag acaaagccag agagggtcgg acctgcattg tcattgccca tcgcttgtcc 3961 accatccaga acgcggatat cattgctgtc atggcacagg gggtggtgat tgaaaagggg 4021 acccatgaag aactgatggc ccaaaaagga gcctactaca aactagtcac cactggatcc 4081 cccatcagtt gacccaatgc aagaatctca gacacacatg acgcaccagt tacaggggtt 4141 gtttttaaag aaaaaaacaa tcccagcacg agggattgct gggattgttt tttctttaaa 4201 gaagaatntn nntattttac ttttacnnnc nttttcctac atcggaatcc aanctaattt 4261 ctaatggcct tccataataa ttctgcttta gatgtgtata cagaaaatga aagaaactag 4321 ggtccatgtg agggaaaacc caatgtcaag tggcagctca gccaccactc agtgcttctc 4381 tgtgcaggag ccagtcctga ttaatatgtg ggaattagtg agacatcagg gagtaagtga 4441 cactttgaac tcctcaagga cagagaactg tctttcattt ttgaaccctc ggtgtacaca 4501 gaggcgggtc tgtaacaggc aatcaacaaa cgtttcttga gctagaccaa ggtcagattt 4561 gaaaagaaca gaaggactga agaccagctg tgtttcttaa ctaaatttgt ctttcaagtg 4621 aaaccagctt ccttcatctc taaggctaag gatagggaaa gggtgggatg ctctcangct 4681 gagggaggca naaagggaaa gtattancat gagctttcca nttagggctg ttgatttatg 4741 ctttaacttc anantgagtg tagggtggtg anncta //