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  JOURNAL   Unpublished (1994)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
//