LOCUS HUMCYP11BA 785 bp DNA linear HUM 15-JUN-2010 DEFINITION Homo sapiens gene for cytochrome P-450c11, partial cds, exons 1-2. ACCESSION D16153 VERSION D16153.1 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 785) AUTHORS Naiki,Y. TITLE Direct Submission JOURNAL Submitted (26-APR-1993) to the DDBJ/EMBL/GenBank databases. Contact:Yasuhiro Naiki Gifu University School of Medicien, Pediatrics; Tsukasamachi 40, Gifu, Gifu 500, Japan REFERENCE 2 AUTHORS Mornet,E. and White,P. TITLE Characterization of Two genes encoding human steroid 11b-hydroxylase (P45011b) JOURNAL J. Biol. Chem. 264, 20961-20967 (1989) REFERENCE 3 AUTHORS Kawamoto,T. and Shizuta,Y. TITLE Cloning of cDNA and genomic DNA for human cytochrome P45011b JOURNAL FEBS Lett. 269, 345-349 (1990) REFERENCE 4 AUTHORS Naiki,Y., Shizuta,Y., Kawamoto,T., Yasuhiro,M., Miyahara,K., Toda,K., Tadao,O. and Imura,H. TITLE A nonsense mutation (TGG(116Arg)-TAG(Stop)) in CYP11B1 causes steriod 11beta-hydroxylase deficiency JOURNAL J. Clin. Endocrinol. Metab. 77, 1677-1682 (1993) REFERENCE 5 AUTHORS Naiki,Y. TITLE Homo sapiens gene for cytochrome P-450c11, partial cds, exons 1-2 (normal) JOURNAL Unpublished (1994) COMMENT FEATURES Location/Qualifiers source 1..785 /db_xref="taxon:9606" /mol_type="genomic DNA" /note="isolated from normal healthy individual" /organism="Homo sapiens" /tissue_type="peripheral blood" CDS join(1..239,630..>785) /codon_start=1 /gene="CYP11B1" /note="exon 1 and exon 2 part" /product="cytochrome P-450c11" /protein_id="BAB71992.1" /translation="MALRAKAEVCMAVPWLSLQRAQALGTRAARVPRTVLPFEAMPQR PGNRWLRLLQIWREQGYEDLHLEVHQTFQELGPIFRYDLGGAGMVCVMLPEDVEKLQQ VDSLHPHRMSLEPWVAYRQHRGHKCGVFLL" exon <1..239 /citation=[2] /gene="CYP11B1" /number=1 variation 128 /replace="g" intron 239..629 unsure 258 /replace="t" unsure 275 /replace="t" unsure 361 /replace="a" unsure 365..366 /replace="g" unsure 373..374 /replace="cg" unsure 385..386 /replace="g" unsure 392..393 /replace="g" unsure 399..400 /replace="c" unsure 414..415 /replace="g" unsure 428..430 /replace="ggg" unsure 436 /replace="gg" unsure 502 /replace="g" unsure 578 /replace="c" unsure 584..585 /replace="g" unsure 588..589 /replace="ta" unsure 591..592 /replace="ac" unsure 596..598 /replace="gtc" unsure 605 /replace="g" unsure 612 /replace="c" exon 630..>785 /citation=[2] /citation=[3] /gene="CYP11B1" /number=2 misc_difference 635 /citation=[2] /citation=[3] /note="conflict" /replace="t" BASE COUNT 164 a 216 c 273 g 132 t ORIGIN 1 atggcactca gggcaaaggc agaggtgtgc atggcagtgc cctggctgtc cctgcaaagg 61 gcacaggcac tgggcacgag agccgcccgg gtccccagga cagtgctgcc ctttgaagcc 121 atgccccagc gtccaggcaa caggtggctg aggctgctgc agatctggag ggagcagggt 181 tatgaggacc tgcacctgga agtacaccag accttccagg aactggggcc cattttcagg 241 taaagccctc cctggcccac gctgggaaca cccagagccc tgcccttgct gcccaggacc 301 ctgccgggca ctcagcactg ccattcccag caggtcccgg cactctgcat cctttggaag 361 atggggaagg agtgcagcac gtgctggtct gtggcgctgc cagggcaggg gcatggtgca 421 gagcaaatcc cagctcgctg cagagagggc aggactcaga ggcactgaag ttaagaggtt 481 ccgggcagtc agcaagaggg ctttagctgt gaagccgcta atccaggaga ggggagggtg 541 gacaggagac actttggatt gggactgcag ggtggggcta gcaggggaca tggtcccatt 601 ccagcacggc ctcgtgcttg gccccacagg tacgacttgg gaggagcagg catggtgtgt 661 gtgatgctgc cggaggacgt ggagaagctg caacaggtgg acagcctgca tccccacagg 721 atgagcctgg agccctgggt ggcctacaga caacatcgtg ggcacaaatg tggcgtgttc 781 ttgct //