LOCUS       NM_000786               3155 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens cytochrome P450 family 51 subfamily A member 1
            (CYP51A1), transcript variant 1, mRNA.
ACCESSION   NM_000786
VERSION     NM_000786.4
KEYWORDS    RefSeq; MANE Select.
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 3155)
  AUTHORS   Kaluzhskiy,L., Yablokov,E., Gnedenko,O., Burkatovskii,D.,
            Maslov,I., Bogorodskiy,A., Ershov,P., Tsybruk,T., Zelepuga,E.,
            Rutckova,T., Kozlovskaya,E., Dmitrenok,P., Gilep,A.,
            Borshchevskiy,V., Strushkevich,N. and Ivanov,A.
  TITLE     The effect of membrane composition on the interaction between human
            CYP51 and its flavonoid inhibitor - luteolin 7,3'-disulfate
  JOURNAL   Biochim Biophys Acta Biomembr 1866 (3), 184286 (2024)
   PUBMED   38272204
  REMARK    GeneRIF: The effect of membrane composition on the interaction
            between human CYP51 and its flavonoid inhibitor - luteolin
            7,3'-disulfate.
REFERENCE   2  (bases 1 to 3155)
  AUTHORS   Yin,J., Fu,J., Shao,Y., Xu,J., Li,H., Chen,C., Zhao,Y., Zheng,Z.,
            Yu,C., Zheng,L. and Wang,B.
  TITLE     CYP51-mediated cholesterol biosynthesis is required for the
            proliferation of CD4+ T cells in Sjogren's syndrome
  JOURNAL   Clin Exp Med 23 (5), 1691-1711 (2023)
   PUBMED   36413274
  REMARK    GeneRIF: CYP51-mediated cholesterol biosynthesis is required for
            the proliferation of CD4[+] T cells in Sjogren's syndrome.
REFERENCE   3  (bases 1 to 3155)
  AUTHORS   McCarty,K.D., Sullivan,M.E., Tateishi,Y., Hargrove,T.Y.,
            Lepesheva,G.I. and Guengerich,F.P.
  TITLE     Processive kinetics in the three-step lanosterol
            14alpha-demethylation reaction catalyzed by human cytochrome P450
            51A1
  JOURNAL   J Biol Chem 299 (7), 104841 (2023)
   PUBMED   37209823
  REMARK    GeneRIF: Processive kinetics in the three-step lanosterol
            14alpha-demethylation reaction catalyzed by human cytochrome P450
            51A1.
REFERENCE   4  (bases 1 to 3155)
  AUTHORS   Jing,Y., Usai,R., Liu,Y. and Kincaid,J.R.
  TITLE     Revealing substrate-induced structural changes in active site of
            human CYP51 in the presence of its physiological substrates
  JOURNAL   J Inorg Biochem 242, 112167 (2023)
   PUBMED   36870163
  REMARK    GeneRIF: Revealing substrate-induced structural changes in active
            site of human CYP51 in the presence of its physiological
            substrates.
REFERENCE   5  (bases 1 to 3155)
  AUTHORS   Lamb,D.C., Hargrove,T.Y., Zhao,B., Wawrzak,Z., Goldstone,J.V.,
            Nes,W.D., Kelly,S.L., Waterman,M.R., Stegeman,J.J. and
            Lepesheva,G.I.
  TITLE     Concerning P450 Evolution: Structural Analyses Support Bacterial
            Origin of Sterol 14alpha-Demethylases
  JOURNAL   Mol Biol Evol 38 (3), 952-967 (2021)
   PUBMED   33031537
  REMARK    GeneRIF: Concerning P450 Evolution: Structural Analyses Support
            Bacterial Origin of Sterol 14alpha-Demethylases.
REFERENCE   6  (bases 1 to 3155)
  AUTHORS   Nelson,D.R., Zeldin,D.C., Hoffman,S.M., Maltais,L.J., Wain,H.M. and
            Nebert,D.W.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 3155)
  AUTHORS   Rozman,D., Stromstedt,M. and Waterman,M.R.
  TITLE     The three human cytochrome P450 lanosterol 14 alpha-demethylase
            (CYP51) genes reside on chromosomes 3, 7, and 13: structure of the
            two retrotransposed pseudogenes, association with a line-1 element,
            and evolution of the human CYP51 family
  JOURNAL   Arch Biochem Biophys 333 (2), 466-474 (1996)
   PUBMED   8809088
REFERENCE   8  (bases 1 to 3155)
  AUTHORS   Stromstedt,M., Rozman,D. and Waterman,M.R.
  TITLE     The ubiquitously expressed human CYP51 encodes lanosterol 14
            alpha-demethylase, a cytochrome P450 whose expression is regulated
            by oxysterols
  JOURNAL   Arch Biochem Biophys 329 (1), 73-81 (1996)
   PUBMED   8619637
REFERENCE   9  (bases 1 to 3155)
  AUTHORS   Aoyama,Y., Noshiro,M., Gotoh,O., Imaoka,S., Funae,Y., Kurosawa,N.,
            Horiuchi,T. and Yoshida,Y.
  TITLE     Sterol 14-demethylase P450 (P45014DM*) is one of the most ancient
            and conserved P450 species
  JOURNAL   J Biochem 119 (5), 926-933 (1996)
   PUBMED   8797093
REFERENCE   10 (bases 1 to 3155)
  AUTHORS   Aoyama,Y., Funae,Y., Noshiro,M., Horiuchi,T. and Yoshida,Y.
  TITLE     Occurrence of a P450 showing high homology to yeast lanosterol
            14-demethylase (P450(14DM)) in the rat liver
  JOURNAL   Biochem Biophys Res Commun 201 (3), 1320-1326 (1994)
   PUBMED   8024575
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U23942.1 and AC000120.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000786.3.
            
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This endoplasmic reticulum protein participates in the synthesis of
            cholesterol by catalyzing the removal of the 14alpha-methyl group
            from lanosterol. Homologous genes are found in all three eukaryotic
            phyla, fungi, plants, and animals, suggesting that this is one of
            the oldest cytochrome P450 genes. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Mar 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.163286.1, U23942.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000003100.13/ ENSP00000003100.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1606              U23942.1           10-1615
            1607-3155           AC000120.1         3790-5338           c
FEATURES             Location/Qualifiers
     source          1..3155
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.2"
     gene            1..3155
                     /gene="CYP51A1"
                     /gene_synonym="CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1"
                     /note="cytochrome P450 family 51 subfamily A member 1"
                     /db_xref="GeneID:1595"
                     /db_xref="HGNC:HGNC:2649"
                     /db_xref="MIM:601637"
     exon            1..305
                     /gene="CYP51A1"
                     /gene_synonym="CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1"
                     /inference="alignment:Splign:2.1.0"
     CDS             114..1643
                     /gene="CYP51A1"
                     /gene_synonym="CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1"
                     /EC_number="1.14.14.154"
                     /note="isoform 1 is encoded by transcript variant 1;
                     sterol 14-alpha demethylase; cytochrome P450, 51
                     (lanosterol 14-alpha-demethylase); lanosterol 14-alpha
                     demethylase; CYPLI; cytochrome P450LI; cytochrome
                     P45014DM; cytochrome P450 51A1; cytochrome P450-14DM;
                     cytochrome P450, family 51, subfamily A, polypeptide 1"
                     /codon_start=1
                     /product="lanosterol 14-alpha demethylase isoform 1"
                     /protein_id="NP_000777.1"
                     /db_xref="CCDS:CCDS5623.1"
                     /db_xref="GeneID:1595"
                     /db_xref="HGNC:HGNC:2649"
                     /db_xref="MIM:601637"
                     /translation="MAAAAGMLLLGLLQAGGSVLGQAMEKVTGGNLLSMLLIACAFTL
                     SLVYLIRLAAGHLVQLPAGVKSPPYIFSPIPFLGHAIAFGKSPIEFLENAYEKYGPVF
                     SFTMVGKTFTYLLGSDAAALLFNSKNEDLNAEDVYSRLTTPVFGKGVAYDVPNPVFLE
                     QKKMLKSGLNIAHFKQHVSIIEKETKEYFESWGESGEKNVFEALSELIILTASHCLHG
                     KEIRSQLNEKVAQLYADLDGGFSHAAWLLPGWLPLPSFRRRDRAHREIKDIFYKAIQK
                     RRQSQEKIDDILQTLLDATYKDGRPLTDDEVAGMLIGLLLAGQHTSSTTSAWMGFFLA
                     RDKTLQKKCYLEQKTVCGENLPPLTYDQLKDLNLLDRCIKETLRLRPPIMIMMRMART
                     PQTVAGYTIPPGHQVCVSPTVNQRLKDSWVERLDFNPDRYLQDNPASGEKFAYVPFGA
                     GRHRCIGENFAYVQIKTIWSTMLRLYEFDLIDGYFPTVNYTTMIHTPENPVIRYKRRS
                     K"
     exon            306..404
                     /gene="CYP51A1"
                     /gene_synonym="CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1"
                     /inference="alignment:Splign:2.1.0"
     exon            405..581
                     /gene="CYP51A1"
                     /gene_synonym="CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1"
                     /inference="alignment:Splign:2.1.0"
     exon            582..708
                     /gene="CYP51A1"
                     /gene_synonym="CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1"
                     /inference="alignment:Splign:2.1.0"
     exon            709..883
                     /gene="CYP51A1"
                     /gene_synonym="CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1"
                     /inference="alignment:Splign:2.1.0"
     exon            884..1003
                     /gene="CYP51A1"
                     /gene_synonym="CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1004..1199
                     /gene="CYP51A1"
                     /gene_synonym="CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1200..1295
                     /gene="CYP51A1"
                     /gene_synonym="CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1296..1464
                     /gene="CYP51A1"
                     /gene_synonym="CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1465..3155
                     /gene="CYP51A1"
                     /gene_synonym="CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3134..3139
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP51A1"
                     /gene_synonym="CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1"
                     /note="hexamer: ATTAAA"
     polyA_site      3155
                     /gene="CYP51A1"
                     /gene_synonym="CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1"
                     /note="major polyA site"
ORIGIN      
        1 agtaggagac ctggggcaag gccccctgtg gacgaccatc tgccagcttc tctcgttccg
       61 tcgattggga ggagcggtgg cgacctcggc cttcagtgtt tccgacggag tgaatggcgg
      121 cggcggctgg gatgctgctg ctgggcttgc tgcaggcggg tgggtcggtg ctgggccagg
      181 cgatggagaa ggtgacaggc ggcaacctct tgtccatgct gctgatcgcc tgcgccttca
      241 ccctcagcct ggtctacctg atccgtctgg ccgccggcca cctggtccag ctgcccgcag
      301 gggtgaaaag tcctccatac attttctccc caattccatt ccttgggcat gccatagcat
      361 ttgggaaaag tccaattgaa tttctagaaa atgcatatga gaagtatgga cctgtattta
      421 gttttaccat ggtaggcaag acatttactt accttctggg gagtgatgct gctgcactgc
      481 tttttaatag taaaaatgaa gacctgaatg cagaagatgt ctacagtcgc ctgacaacac
      541 ctgtgtttgg gaagggagtt gcatacgatg tgcctaatcc agttttcttg gagcagaaga
      601 aaatgttaaa aagtggcctt aacatagccc actttaaaca gcatgtttct ataattgaaa
      661 aagaaacaaa ggaatacttt gagagttggg gagaaagtgg agaaaaaaat gtgtttgaag
      721 ctctttctga gctcataatt ttaacagcta gccattgttt gcatggaaag gaaatcagaa
      781 gtcaactcaa tgaaaaggta gcacagctgt atgcagattt ggatggaggt ttcagccatg
      841 cagcctggct cttaccaggt tggctgcctt tgcctagttt cagacgcagg gacagagctc
      901 atcgggaaat caaggatatt ttctataagg caatccagaa acgcagacag tctcaagaaa
      961 aaattgatga cattctccaa actttactag atgctacata caaggatggg cgtcctttga
     1021 ctgatgatga agtagcaggg atgcttattg gattactctt ggcagggcag catacatcct
     1081 caactactag tgcttggatg ggcttctttt tggccagaga caaaacactt caaaaaaaat
     1141 gttatttaga acagaaaaca gtctgtggag agaatctgcc tcctttaact tatgaccagc
     1201 tcaaggatct aaatttactt gatcgctgta taaaagaaac attaagactt agacctccta
     1261 taatgatcat gatgagaatg gccagaactc ctcagactgt ggcagggtat accattcctc
     1321 caggacatca ggtgtgtgtt tctcccactg tcaatcaaag acttaaagac tcatgggtag
     1381 aacgcctgga ctttaatcct gatcgctact tacaggataa cccagcatca ggggaaaagt
     1441 ttgcctatgt gccatttgga gctgggcgtc atcgttgtat tggggaaaat tttgcctatg
     1501 ttcaaattaa gacaatttgg tccactatgc ttcgtttata tgaatttgat ctcattgatg
     1561 gatactttcc cactgtgaat tatacaacta tgattcacac ccctgaaaac ccagttatcc
     1621 gttacaaacg aagatcaaaa tgaaaaaggt tgcaaggaac gaatatatgt gattatcact
     1681 gtaagccaca aaggcattcg aagagaatga agtgtacaaa acaactcttg tagtttactg
     1741 tttttttaag tgtgtaattc taaaagccag tttatgattt aggattttgt taactgaatg
     1801 gttctatcaa atataatagc atttgaaaca ttttctaata gttatgatac ttatacatgt
     1861 gctttcagga agttccttgg tgaaacaatt gttgaggggg gatctaggta attggcagat
     1921 tctaaataat ataatttcca gatagtaatt ttaagagtac tcatcgctct tgccaaataa
     1981 gttcagggta ttcaaatctt ggactagtcc tgcaaggtat aaagaataaa aatcccagtg
     2041 agatacttgg aaaccacagt ttattattat ttatctgggc aattattgtg tgtgtgagga
     2101 tggaagggta gggaataatc gaacatctaa agccttgaat aagagaatac taattgtttt
     2161 ggtatgatga tactcagaaa tggagatatt ataggaaaaa gaaatccttt ggaattttaa
     2221 ctaaaatcac tgcatatggg aaattaagag atccaggacc atatttgata agagttccta
     2281 aaaataatgt aattattaat gctaaagact gctcatgtat cttgatctaa ttactaaata
     2341 attacatatt tatttacctg ataaatatgt atctagttct acaaggtcac atttatgtgg
     2401 aagtccaaag tcaagtcctt aggggataat tttgttttgg ctcagttgtt ccctgcttcc
     2461 tttttttttt tttttttttg agatggagtc tcgctctgtt gcccaggctg gagtgcagtg
     2521 gtgcgatctc agctcactgc atcctctgcc tcccgggttc aagcaattct ctgcctcagc
     2581 ctcccaagta gttgggatta caggcacctg ccaccatgcc tggctaattt tttgtatttt
     2641 tagtagagac gggggtttca ctatgttggc taggctggtc ttgaactcct gacctcgtga
     2701 tccacccgcc ttggcctccc aaagtgctgg gattacaggc atgagccacc gcacctggcc
     2761 ttccctgctt cctctctaga atccaattag ggatgtttgt tactactcat attgattaaa
     2821 acagttaaca aacttttttc tttttaaaat gtgagatcag tgaactctgg ttttaagata
     2881 atctgaaaca aggtccttgg gagtaataaa attggtcaca ttctgtaaag cacattctgt
     2941 ttaggaatca acttatctca aattgtaact cggggcctaa ctatatgaga tggctgaaaa
     3001 aataccacat cgtctgtttt cactaggtga tgccaaaata ttttgcttta tgtatattac
     3061 agttcttttt aaaacactgg aagactcatg ttaaactcta attgtgaagg cagaatctct
     3121 gctaattttt cagattaaaa ttctctttga aaaaa
//
