LOCUS X58906 2771 bp DNA linear HUM 14-NOV-2006
DEFINITION H.sapiens CYP21 gene for steroid 21-monooxygenase.
ACCESSION X58906
VERSION X58906.1
KEYWORDS CYP21 gene; P450c21; steroid 21-monooxygenase.
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 2771)
AUTHORS Helmberg A.
JOURNAL Submitted (18-MAR-1991) to the INSDC. A. Helmberg, Institute for
General and Exp. Pathology, University of Innsbruck Medical School,
Fritz Pregl str 3, 6020 Innsbruck, Austria
REFERENCE 2 (bases 1 to 2217)
AUTHORS Helmberg A., Kofler R.
JOURNAL Unpublished.
REFERENCE 3 (bases 1 to 2771)
AUTHORS Helmberg A., Tusie-Luna M.T., Tabarelli M., Kofler R., White P.C.
TITLE R339H and P453S: CYP21 mutations associated with nonclassic steroid
21-hydroxylase deficiency that are not apparent gene conversions
JOURNAL Mol. Endocrinol. 6(8), 1318-1322(1992).
PUBMED 1406709
COMMENT Defective steroid 21-monooxygenase (CYP21) allele derived from a
congenital hyperplasia (clinical form: "non-classical") patient
FEATURES Location/Qualifiers
source 1..2771
/organism="Homo sapiens"
/chromosome="6"
/map="6p"
/isolate="patient 6"
/mol_type="genomic DNA"
/clone="AGS 6-19"
/cell_type="leukocytes"
/tissue_type="peripheral blood"
/note="cloned PCR-amplificate"
/db_xref="taxon:9606"
regulatory 15..19
/regulatory_class="TATA_box"
variation 49
/replace="c"
exon <53..254
/number=1
CDS join(53..254,352..441,724..878,986..1087,1176..1277,
1379..1465,1635..1835,2036..2214,2298..2401,2498..2763)
/gene="CYP21"
/product="steroid 21-monooxygenase"
/EC_number="1.14.99.10"
/db_xref="GOA:P08686"
/db_xref="HGNC:HGNC:2600"
/db_xref="InterPro:IPR001128"
/db_xref="InterPro:IPR002401"
/db_xref="InterPro:IPR017972"
/db_xref="InterPro:IPR036396"
/db_xref="PDB:2GEG"
/db_xref="PDB:4Y8W"
/db_xref="UniProtKB/Swiss-Prot:P08686"
/protein_id="CAA41709.1"
/translation="MLLLGLLLLLPLLAGARLLWNWWKLRSLHLPPLAPGFLHLLQPD
LPIYLLGLTQKFGPIYRLHLGLQDVVVLNSKRTIEEAMVKKWADFAGRPEPLTYKLVS
RNYPDLSLGDYSLLWKAHKKLTRSALLLGIRDSMEPVVEQLTQEFCERMRAQPGTPVA
IEEEFSLLTCSIICYLTFGDKIKDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPFLRF
FPNPGLRRLKQAIEKRDHIVEMQLRQHKESLVAGQWRDMMDYMLQGVAQPSMEEGSGQ
LLEGHVHMAAVDLLIGGTETTANTLSWAVVFLLHHPEIQQRLQEELDHELGPGASSSR
VPYKDHARLPLLNATIAEVLRLRPVVPLALPHRTTRPSSISGYDIPEGTVIIPNLQGA
HLDETVWERPHEFWPDRFLEPGKNSRALAFGCGARVCLGEPLARLELFVVLTRLLQAF
TLLSSGDALPSLQPLPHCSVILKMQPFQVRLQPRGMGAHSPGQSQ"
variation 80..82
intron 255..351
/number=1
exon 352..441
/number=2
intron 442..723
/number=2
exon 724..878
/number=3
variation 739
/replace="a"
intron 879..985
/number=3
exon 986..1087
/number=4
intron 1088..1175
/number=4
exon 1176..1277
/number=5
intron 1278..1378
/number=5
exon 1379..1465
/number=6
intron 1466..1634
/number=6
exon 1635..1835
/number=7
intron 1836..2035
/number=7
exon 2036..2214
/number=8
variation 2115
/replace="g"
intron 2215..2297
/number=8
exon 2298..2401
/number=9
intron 2402..2497
/number=9
exon 2498..>2763
/number=10
variation 2756
/replace="a"
BASE COUNT 487 a 909 c 814 g 561 t
ORIGIN
1 tggggctctt gagctataag tggcacctca gggccctgac gggcgtcttg ccatgctgct
61 cctgggcctg ctgctgctgc tgcccctgct ggctggcgcc cgcctgctgt ggaactggtg
121 gaagctccgg agcctccacc tcccgcctct tgccccgggc ttcttgcact tgctgcagcc
181 cgacctccca atctatctgc ttggcctgac tcagaaattc gggcccatct acaggctcca
241 ccttgggctg caaggtgaga ggctgatctc gctctggccc tcaccatagg agggggcgga
301 ggtgacggag agggtcctct ctccgctgac gctgctttgg ctgtctccca gatgtggtgg
361 tgctgaactc caagaggacc attgaggaag ccatggtcaa aaagtgggca gactttgctg
421 gcagacctga gccacttacc tgtaagggct gggggcattt tttctttctt aaaaaaattt
481 ttttttaaga gatgggttct tgctatgctg cccaggctgg tcttaaattc ctagtctcaa
541 atgatcctcc cacctcagcc tcaagtgtga gccacctttg gggcatcccc aatccaggtc
601 cctggaagct cttggggggg catatctggt ggggagaaag caggggttgg ggaggccgaa
661 gaaggtcagg ccctcagctg ccttcatcag ttcccaccct ccagccccca cctcctcctg
721 cagacaagct ggtgtctagg aactacccgg acctgtcctt gggagactac tccctgctct
781 ggaaagccca caagaagctc acccgctcag ccctgctgct gggcatccgt gactccatgg
841 agccagtggt ggagcagctg acccaggagt tctgtgaggt aaggctgggc tcctgaggcc
901 acctcgggtc agcctcgcct ctcacagtag cccccgccct gcccgctgca cagcggcctg
961 ctgaactcac actgtttctc cacagcgcat gagagcccag cccggcaccc ctgtggccat
1021 tgaggaggaa ttctctctcc tcacctgcag catcatctgt tacctcacct tcggagacaa
1081 gatcaaggtg cctcacagcc cctcaggccc acccccagcc cctccctgag cctctccttg
1141 tcctgaactg aaagtactcc ctccttttct ggcaggacga caacttaatg cctgcctatt
1201 acaaatgtat ccaggaggtg ttaaaaacct ggagccactg gtccatccaa attgtggacg
1261 tgattccctt tctcagggtg aggacctgga gcctagacac ccctgggttg taggggagag
1321 gctggggtgg agggagaggc tccttcccac agctgcattc tcatgcttcc tgccgcagtt
1381 cttccccaat ccaggtctcc ggaggctgaa gcaggccata gagaagaggg atcacatcgt
1441 ggagatgcag ctgaggcagc acaaggtggg gactgtacgt ggacggcctc ccctcggccc
1501 acagccagtg atgctaccgg cctcagcatt gctatgaggc gggttctttt gcatacccca
1561 gttatgggcc tgttgccact ctgtactcct ctccccaggc cagccgctca gcccgctcct
1621 ttcaccctct gcaggagagc ctcgtggcag gccagtggag ggacatgatg gactacatgc
1681 tccaaggggt ggcgcagccg agcatggaag agggctctgg acagctcctg gaagggcacg
1741 tgcacatggc tgcagtggac ctcctgatcg gtggcactga gaccacagca aacaccctct
1801 cctgggccgt ggtttttttg cttcaccacc ctgaggtgcg tcctggggac aagcaaaagg
1861 ctccttccca gcaacctggc cagggcggtg ggcaccctca ctcagctctg agcactgtgc
1921 ggctggggct gtgcttgcct caccggcact caggctcact gggttgctga gggagcggct
1981 ggaggctggg cagctgtggg ctgctggggc aggactccac ccgatcattc cccagattca
2041 gcagcgactg caggaggagc tagaccacga actgggccct ggtgcctcca gctcccgggt
2101 cccctacaag gaccatgcac ggctgccctt gctcaatgcc accatcgccg aggtgctgcg
2161 cctgcggccc gttgtgccct tagccttgcc ccaccgcacc acacggccca gcaggtgact
2221 cccgagggtt ggggatgagt gaggaaagcc cgagcccagg gaggtcctgg ccagcctcta
2281 actccagccc ccttcagcat ctccggctac gacatccctg agggcacagt catcattccg
2341 aacctccaag gcgcccacct ggatgagacg gtctgggaga ggccacatga gttctggcct
2401 ggtatgtggg ggccgggggc ctgccgtcaa aatgtggtgg aggctggtcc ccgctgccgc
2461 tgaacgcctc cccacccacc tgtccacccg cccgcagatc gcttcctgga gccaggcaag
2521 aactccagag ctctggcctt cggctgcggt gcccgcgtgt gcctgggcga gccgctggcg
2581 cgcctggagc tcttcgtggt gctgacccga ctgctgcagg ccttcacgct gctgtcctcc
2641 ggggacgccc tgccctccct gcagcccctg ccccactgca gtgtcatcct caagatgcag
2701 cctttccaag tgcggctgca gccccggggg atgggggccc acagcccggg ccagagccag
2761 tgatggggca g
//