LOCUS AH006655 8198 bp DNA linear HUM 10-JUN-2016
DEFINITION Homo sapiens chromosome 7 lanosterol 14-alpha demethylase (CYP51)
gene, complete cds.
ACCESSION AH006655 U51684 U51685 U51686 U51687 U51688 U51689 U51690 U51691
U51692
VERSION AH006655.4
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 8198)
AUTHORS Rozman,D., Stromstedt,M., Tsui,L.C., Scherer,S.W. and Waterman,M.R.
TITLE Structure and mapping of the human lanosterol 14alpha-demethylase
gene (CYP51) encoding the cytochrome P450 involved in cholesterol
biosynthesis; comparison of exon/intron organization with other
mammalian and fungal CYP genes
JOURNAL Genomics 38 (3), 371-381 (1996)
PUBMED 8975714
REFERENCE 2 (bases 1 to 8198)
AUTHORS Rozman,D., Fink,M., Fimia,G.-M., Sassone-Corsi,P. and Waterman,M.R.
TITLE Lanosterol 14alpha-demethylase (CYP51): a housekeeping
cholesterogenic gene regulated by sterol/SREBP in somatic cells and
by cAMP/CREMt in spermatids
JOURNAL Unpublished
REFERENCE 3 (bases 1 to 8198)
AUTHORS Rozman,D., Stromstedt,M. and Waterman,M.R.
TITLE Direct Submission
JOURNAL Submitted (19-MAR-1996) D. Rozman, School of Medicine, Department
of Biochemistry, Vanderbilt University, Nashville, TN 37232-0146,
USA
REFERENCE 4 (bases 1 to 8198)
AUTHORS Rozman,D., Stromstedt,M. and Waterman,M.R.
TITLE Direct Submission
JOURNAL Submitted (29-JUN-1999) D. Rozman, School of Medicine, Department
of Biochemistry, Vanderbilt University, Nashville, TN 37232-0146,
USA
REMARK Sequence update by submitter
REFERENCE 5 (bases 1 to 1451)
AUTHORS Rozman,D.
TITLE Direct Submission
JOURNAL Submitted (14-OCT-1999) Institute of Biochemistry, Medical Faculty,
University of Ljubljana, Vrazov trg 2, Ljubljana 1000, Slovenia
REMARK Sequence update by submitter
COMMENT On or before Jun 10, 2016 this sequence version replaced U51684.3,
U51685.1, U51686.1, U51687.1, U51688.1, U51689.1, U51690.1,
U51691.1, U51692.1, AH006655.3.
FEATURES Location/Qualifiers
source 1..8198
/organism="Homo sapiens"
/mol_type="genomic DNA"
/db_xref="taxon:9606"
/chromosome="7"
/map="7q21.2-q21.3"
gene 110..8198
/gene="CYP51"
exon 110..926
/gene="CYP51"
/number=1
mRNA join(404..926,1885..1983,2585..2761,3386..3512,4108..4282,
5010..5129,5548..5743,6282..6377,6807..6975,7563..>8198)
/gene="CYP51"
/product="lanosterol 14-alpha demethylase"
/note="minor transcript"
mRNA join(504..926,1885..1983,2585..2761,3386..3512,4108..4282,
5010..5129,5548..5743,6282..6377,6807..6975,7563..>8198)
/gene="CYP51"
/product="lanosterol 14-alpha demethylase"
/note="major transcript"
mRNA join(505..926,1885..1983,2585..2761,3386..3512,4108..4282,
5010..5129,5548..5743,6282..6377,6807..6975,7563..>8198)
/gene="CYP51"
/product="lanosterol 14-alpha demethylase"
/note="minor transcript"
CDS join(753..926,1885..1983,2585..2761,3386..3512,4108..4282,
5010..5129,5548..5743,6282..6377,6807..6975,7563..7741)
/gene="CYP51"
/function="demethylates the position 14-alpha of
lanosterol; involved in cholesterol biosynthetic pathway"
/note="gene spans
20 kb and is divided into 10 exons; cytochrome P450"
/codon_start=1
/product="lanosterol 14-alpha demethylase"
/protein_id="AAC50951.1"
/translation="MLLLGLLQAGGSVLGQAMEKVTGGNLLSMLLIACAFTLSLVYLI
RLAAGHLVQLPAGVKSPPYIFSPIPFLGHAIAFGKSPIEFLENAYEKYGPVFSFTMVG
KTFTYLLGSDAAALLFNSKNEDLNAEDVYSRLTTPVFGKGVAYDVPNPVFLEQKKMLK
SGLNIAHFKQHVSIIEKETKEYFESWGESGEKNVFEALSELIILTASHCLHGKEIRSQ
LNEKVAQLYADLDGGFSHAAWLLPGWLPLPSFRRRDRAHREIKDIFYKAIQKRTQSQE
KIDDILQTLLDATYKDGRPLTDDEVAGMLIGLLLAGQHTSSTTSAWMGFFLARDKTLQ
KKCYLEQKTVCGENLPPLTYDQLKDLNLLDRCIRETLRLRPPIMIMMRMARTPQTVAG
YTIPPGHQVCVSPTVNQRLKDSWVERLDFNPDRYLQDNPASGEKFAYVPFGAGRHRCI
GENFAYVQIKTIWSTMLRLYEFDLIDGYFPTVNYTTMIHTPENPVIRYKRRSK"
intron 927..>1451
/gene="CYP51"
/number=1
gap 1452..1551
/estimated_length=unknown
intron <1552..1884
/gene="CYP51"
/number=1
exon 1885..1983
/gene="CYP51"
/number=2
intron 1984..>2292
/gene="CYP51"
/number=2
gap 2293..2392
/estimated_length=unknown
intron <2393..2584
/gene="CYP51"
/number=2
exon 2585..2761
/gene="CYP51"
/number=3
intron 2762..>3175
/gene="CYP51"
/number=3
repeat_region complement(2853..3155)
/note="Alu repeat within intron 3"
/rpt_family="Alu"
gap 3176..3275
/estimated_length=unknown
intron <3276..3385
/gene="CYP51"
/number=3
exon 3386..3512
/gene="CYP51"
/number=4
intron 3513..>3753
/gene="CYP51"
/number=4
gap 3754..3853
/estimated_length=unknown
intron <3854..4107
/gene="CYP51"
/number=4
exon 4108..4282
/gene="CYP51"
/number=5
intron 4283..>4516
/gene="CYP51"
/number=5
gap 4517..4616
/estimated_length=unknown
intron <4617..5009
/gene="CYP51"
/number=5
exon 5010..5129
/gene="CYP51"
/number=6
intron 5130..5547
/gene="CYP51"
/number=6
exon 5548..5743
/gene="CYP51"
/number=7
intron 5744..>5837
/gene="CYP51"
/number=7
gap 5838..5937
/estimated_length=unknown
intron <5938..6281
/gene="CYP51"
/number=7
exon 6282..6377
/gene="CYP51"
/number=8
intron 6378..>6547
/gene="CYP51"
/number=8
gap 6548..6647
/estimated_length=unknown
intron <6648..6806
/gene="CYP51"
/number=8
exon 6807..6975
/gene="CYP51"
/number=9
intron 6976..>7227
/gene="CYP51"
/number=9
gap 7228..7327
/estimated_length=unknown
intron <7328..7562
/gene="CYP51"
/number=9
exon 7563..>8198
/gene="CYP51"
/number=10
3'UTR 7742..>8198
/gene="CYP51"
BASE COUNT 2003 a 1372 c 1661 g 2357 t
ORIGIN
1 tggtggcata ttaatacctg tcaggttgat tttagttgga gtgggacggg gctgacctca
61 ccgtcctacc cttcggtatg aggccggcgt cttcacgacc tcgcttttca caaccccagt
121 ccccgagggc ttatttgggg ctgtcggagt ccccaagacg tggccccgga gaagggtgag
181 gtgccacagt tcgaggtgcc ccagtaccct gcgtccggac agggggcggt gctcacgccc
241 aaggccccgc tgacgcgatg taggccgaga tcacctcagg cgctcgcggt gcaatcacag
301 agcgcgccgt cgccgctcga gctcgccctg agatccctcc gctcagcgcc ttcaacgccg
361 tgtcccggca ccccgcaccc gggcacacaa aaaacgggtc gcccgcgatt ctcagggatt
421 gatccgcctc ttcaggtaag ttatcttccg gccccgtacc actgtgccac aggcgcagcc
481 cgcttcctca ggtgccctat cccgcgcaga agaccacggc ttcacagagt gttatttaag
541 ggcgtggcca gcggaacatc ccgccccatt ctgtgacgca cggggtggcg cgcgtgggac
601 ccgaggggtg gggctgggtt tagtaggaga cctggggcaa ggccccctgt ggacgaccat
661 ctgccagctt ctctcgttcc gtcgattggg aggagcggtg gcgacctcgg ccttcagtgt
721 ttccgacgga gtgaatggcg gcggcggctg ggatgctgct gctgggcttg ctgcaggcgg
781 gtgggtcggt gctgggccag gcgatggaga aggtgacagg cggcaacctc ttgtccatgc
841 tgctgatcgc ctgcgccttc accctcagcc tggtctacct gatccgtctg gccgccggcc
901 acctggtcca gctgcccgca ggggtggtac gtacattctt tagggtctga gtggggcgcg
961 cgccgcagct gaggcggccg aaggctggcg tgggcggctc cgtggccccg accggctcag
1021 tggatggcaa gggcgggggc gactgccggc catgcttggc gtggcttttg tggcaggcgc
1081 gctgggggct ggagtagtgg ctgcggcggc ggcactgctg ctggtggcgc tggctgtagc
1141 acccgcattg ccttgtgttg gggggcggtg ctggcctccc cggctgtgta tctgatccta
1201 gacggggtcg tggttgcggc atttgtggtt gtagcggtct gtactgaccg agcagtggtg
1261 cccctagtgg cggtggctgg attggcggct gtgggtttaa acgacccggt ggtcgttggg
1321 gcccttggtg ggggtcctga cggagatgct gttggcagct ggcccgtaat cctggaggct
1381 gccctgtgtg gttcagtgtt ctgtgggctg tagcagtgcc cctaaatggt ggtttatacc
1441 catattaagg annnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
1501 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nttttgctac
1561 taatggttag aaagttgcct ggagacacca ataataattg gacatattct ggacagtgcc
1621 acatttaaat ttacagtgcc ttagtgttta tctggcgttt acttataccg tgttttgagt
1681 ttctgttctt ttctacaata gctactctct tgaggtattt gcaatttggc tgttctcaag
1741 ttacttctga tgcttccttt tttttggtaa cttttttttg aagtcttaat agctattttg
1801 tttaattgtt tggtcatgaa acgaaactgg gtttctctct tgaaatgaaa cacgaattga
1861 atttactatt tttttctctt gtagaaaagt cctccataca ttttctcccc aattccattc
1921 cttgggcatg ccatagcatt tgggaaaagt ccaattgaat ttctagaaaa tgcatatgag
1981 aaggtaagtc ttccaaataa ttagaggaaa aaaaaaaaaa caactagaga agtgcttttt
2041 aaactttttt aaaaaagtgg cagaacattt aaaaacattg taatcatata catatcctca
2101 gtataggaaa caaaatggaa actgctctgg tttaagagat ggtgtcttat agatacctat
2161 ccttttagct tttcccatgt gcctggggtc gtctttgaga caccattgag gaaacctgta
2221 gttgtggcaa ctatggttta aaagccactg ttctgagttt ctattcactt attgtcatta
2281 aattgatatt aannnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
2341 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nntttgcaac
2401 taaatgaaca taattataaa tttggacaaa ggaaggagga gtatggcaag atgaaaagaa
2461 ttgctttaag gtttatatat gttttttatt ttttttaata atgcattatt tttgtgattt
2521 taaaaagtta ctgcgtagtg ttgcatattt ttgtaacatc actatatgta ctttctcttt
2581 ttagtatgga cctgtattta gttttaccat ggtaggcaag acatttactt accttctggg
2641 gagtgatgct gctgcactgc tttttaatag taaaaatgaa gacctgaatg cagaagatgt
2701 ctacagtcgc ctgacaacac ctgtgtttgg gaagggagtt gcatacgatg tgcctaatcc
2761 agtaggtgac actgttacca taaataaaga caaatctata cctcagtagt tatagctaat
2821 agtgagacat tatacattta aaangtagaa acagccaggc atggtggctc attcctgtaa
2881 tcccagcact ttgggaggcc aaggtgggtg gatcactcaa agtcaggagt tcaagaccag
2941 cctggccaac atggtgaaac cctgtctcta ctaaaaatac aaaaattagc tgggtggggc
3001 tggtggtgca cacctgtaaa ttccagctac ttgggaggct gaggcatgag aatcgcttga
3061 acccaggagg cggaggttgc aagtgagccc gagatcacaa cactgcactt tagccttggc
3121 aacagagtga gaccctgtct caaaacagaa caaaaaccaa acacacacac acagannnnn
3181 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
3241 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnaaacc attacttgtg ttacgtgtta
3301 cataattata ataacctaaa tggattttat gataaaacga aaaatgtgtt ttaatcccgt
3361 atccccgttt tgaatttttt tgaaggtttt cttggagcag aagaaaatgt taaaaagtgg
3421 ccttaacata gcccacttta aacagcatgt ttctataatt gaaaaagaaa caaaggaata
3481 ctttgagagt tggggagaaa gtggagaaaa aagtaagcaa aatgttttac tgtttgtcct
3541 aacatttcta cttctctgtg aatagaaaat gtagagtata tatgtgtgta gtatataaaa
3601 aacaaattta cagtgtatgt aaaactacct tagatttatg ggagggatat gtaatgttta
3661 ccatgaagtt ggaactgaga atccagactt tatactgggc atgcgaagtt aagtattgcc
3721 ttcagaagca attccctgtg cccatagtag gaannnnnnn nnnnnnnnnn nnnnnnnnnn
3781 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
3841 nnnnnnnnnn nnncatgatg aagtgctcat gagtggggtt ttgagatgtg tttctgggat
3901 ctgttttggc tgtttagagg gacagggtgc ttcacattgt ttggtttatt gcccctcttt
3961 gttgttgtac atagtcacat gtctgtctac agactttttt tgatgatatg aataggatct
4021 tgtttcttct tgagttctgt ttttaattct caattttctt tcactttttg gaaatagtaa
4081 tgagaataat cttttttttc tccctagatg tgtttgaagc tctttctgag ctcataattt
4141 taacagctag ccattgtttg catggaaagg aaatcagaag tcaactcaat gaaaaggtag
4201 cacagctgta tgcagatttg gatggaggtt tcagccatgc agcctggctc ttaccaggtt
4261 ggctgccttt gcctagtttc aggtatggat aaagaatata ttacactagg ttatttaact
4321 ttgtataatt attgtagtgt tggtatgctt tnccttaaca aagataaaaa ttaaacaagt
4381 aaaacataca aaatgggtaa gattatgaat cccctttctt ctataagaat tcaagacaaa
4441 ttttctttat ataatgagct catttaaagt aagtttcagt ttattaaaaa ggtgatttgt
4501 tgtctgtcta gtctaannnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
4561 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnntgct
4621 ttaagcactt gatttggtat taaaattgga acttttatgt taatttaaaa gagtatccta
4681 ctttctgttg aactggaaaa tacttgtaaa ggaatttctt gcttgtttta ggcctttagt
4741 ttgaaccaca ggcaatgtgt taagaatctg ggatatatat gttaaataaa gcacagttct
4801 tgcccttagg gactatggac atttttaaca atgtaagcat tttcatgact tccagtatgt
4861 tcctggttct gattttttgt caattattta aggtcattaa agttggttaa ataagatgct
4921 ttatgctcgg tcctggttcc tcaaaatgaa tttgatccta gaaggttatt tctttattta
4981 acaaaatcat ctttatcttt taattacaga cgcagggaca gagctcatcg ggaaatcaag
5041 gatattttct ataaggcaat ccagaaacgc acacagtctc aagaaaaaat tgatgacatt
5101 ctccaaactt tactagatgc tacatacaag taagagctat tcagataaca tattaagctg
5161 aagcaggaaa ttacacatta aaacacagtt aaatagtatt tccagttaaa aaactgtgat
5221 gctggcaaaa taagttggta gctgtgatct ttggactctt taaattgttg acgacataaa
5281 ctattggcat cctgtgtctt actgtaatcc catgtactgg gtatggtaaa agtttgctaa
5341 tgaactgtaa tggagtcttt tgtaatcaaa atcgttttgt gctggtctgt ctcttcccta
5401 agagaaaaaa actcttgact tgtgatagtc aaatataaga gaccactata cctgaaaaat
5461 gtattcatta tgacacttta tttaaangtt gaggcatgaa atgtatctgc caaaatgtta
5521 aatttgtgtc tttggttcat tccttaggga tgggcgtcct ttgactgatg atgaagtagc
5581 agggatgctt attggattac tcttggcagg gcagcataca tcctcaacta ctagtgcttg
5641 gatgggcttc tttttggcca gagacaaaac acttcaaaaa aaatgttatt tagaacagaa
5701 aacagtctgt ggagagaatc tgcctccttt aacttatgac caggtttgtt ggtttttcag
5761 tttcattgct gccttatgac tttgagggtc tgtggctaat ttttaaaagg gacaatttag
5821 attttctata tacatatnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
5881 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnttt
5941 ttcttgaatt aactctcctt agattgttgc aagcctttgg ttaatcttcc agaattttga
6001 aaaagttgac attaagattg ttgctactgt tttcattttt tggaggagtg aatttttgta
6061 ggttcttact tcattgttca gggcaatcgc ttctgttacc ttgcctcctt ttcaccatgg
6121 acagtggtag agcatagtaa ccccagccac cctgaaccag ttacctcngt acttttagct
6181 ggaatgcaag ctgtcttgta ctaactaaga agttaaacta attttttgta ctgttgaagt
6241 atgttattta ttaacaatca ggaaatgctt tctcatttta gctcaaggat ctaaatttac
6301 ttgatcgctg tataagagaa acattaagac ttagacctcc tataatgatc atgatgagaa
6361 tggccagaac tcctcaggtg agtatcttgg ctacatcttc ccctctatac ccccagtttt
6421 tatcaaaaag aagaaatagg tgggtgtggt ggttcacacc tgtaatctca acactttggg
6481 aggctgaggt gggagggatc acttgaaggc cagaatttga ggacccagcc tgggcaacat
6541 agtgagannn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
6601 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnttt ttgactttat
6661 gatggattta tcaggatggt aaacctatca taagtcaagg agcatctgag tatcccatgt
6721 atattcatgc tttattacac aatgatctga ttatttgtca gcacattttt aaattctcta
6781 atgaaatgtg tggcttttgt ttatagactg tggcagggta taccattcct ccaggacatc
6841 aggtgtgtgt ttctcccact gtcaatcaaa gacttaaaga ctcatgggta gaacgcctgg
6901 actttaatcc tgatcgctac ttacaggata acccagcatc aggggaaaag tttgcctatg
6961 tgccatttgg agctggtaag atgattatat tttagattgg aaatgtttgt tctgataaca
7021 tatatgtctc tgtcaaaata ttccgaattg tgtttacaaa ttatctctcc ctttcctcat
7081 agggacattt ttgcaaactt ttttaggaga agaatcttta taagttggag aaaaatattt
7141 cctttgtacc aaatggaatt gttccataaa tccttatata atgcttcact acttcctaac
7201 ctgtctggtt ttattaggtc taattttnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
7261 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
7321 nnnnnnnaaa aagtaattgg aaaagttatg tggatcagtc aagtactgtt ttcctaaaat
7381 gtggtattga aaatctcctg gaatttttaa taattcatgt tgttttatgt gaaaagaatg
7441 tcatcttttt attatattat ctgtacattt gctgttcatc taaaatgtag ataatatcac
7501 cccaggctaa aaaccatgag aaagaattta aactgattct tataactttt ngtttttttt
7561 agggcgtcat cgttgtattg gggaaaattt tgcctatgtt caaattaaga caatttggtc
7621 cactatgctt cgtttatatg aatttgatct cattgatgga tactttccca ctgtgaatta
7681 tacaactatg attcacaccc ctgagaaccc agttatccgt tacaaacgaa gatcaaaatg
7741 aaaaaggttg caaggaacga atatatgtga ttatcactgt aagccacaaa ggcattcgaa
7801 gagaatgaag tgtacaaaac aactcttgta gtttactgtt tttttaagtg tgtaattcta
7861 aaagccagtt tatgatttag gattttgtta actgaatggt tctatcaaat ataatagcat
7921 ttgacacatt ttctaatagt tatgatactt atacatgtgc tttcaggaag ttccttggtg
7981 aaacaattgt tgagggggga tctaggtaat tggcagattc taaataatat aatttccaga
8041 tagtaatttt aagagtactc atcgctcttg ccaaataagt tcagggtatt caaatcttgg
8101 actagtcctg caaggtataa agaataaaaa tcccagtgag atacttggaa accacagttt
8161 attattattt atctgggcaa ttattgtgtg tgtgagga
//