LOCUS       NM_000784               1895 bp    mRNA    linear   PRI 04-DEC-2024
DEFINITION  Homo sapiens cytochrome P450 family 27 subfamily A member 1
            (CYP27A1), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000784
VERSION     NM_000784.4
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 1895)
  AUTHORS   Peng,T., Cui,J., Ni,Z., Tang,Y., Cao,X., Li,S., Cheng,X. and
            Huang,J.
  TITLE     Methyl-CpG-binding protein 2 regulates CYP27A1-induced myometrial
            contraction during preterm labor
  JOURNAL   Mol Hum Reprod 30 (6) (2024)
   PUBMED   38704863
  REMARK    GeneRIF: Methyl-CpG-binding protein 2 regulates CYP27A1-induced
            myometrial contraction during preterm labor.
REFERENCE   2  (bases 1 to 1895)
  AUTHORS   Yu,K., Huang,Z., Xiao,Y., Gao,H., Bai,X. and Wang,D.
  TITLE     Global spread characteristics of CTX-M-type extended-spectrum
            beta-lactamases: A genomic epidemiology analysis
  JOURNAL   Drug Resist Updat 73, 101036 (2024)
   PUBMED   38183874
  REMARK    GeneRIF: Global spread characteristics of CTX-M-type
            extended-spectrum beta-lactamases: A genomic epidemiology analysis.
REFERENCE   3  (bases 1 to 1895)
  AUTHORS   Koroglu,M., Karakaplan,M., Gunduz,E., Kesriklioglu,B., Ergen,E.,
            Aslanturk,O. and Ozdemir,Z.M.
  TITLE     Cerebrotendinous Xanthomatosis patients with late diagnosed in
            single orthopedic clinic: two novel variants in the CYP27A1 gene
  JOURNAL   Orphanet J Rare Dis 19 (1), 53 (2024)
   PUBMED   38336741
  REMARK    GeneRIF: Cerebrotendinous Xanthomatosis patients with late
            diagnosed in single orthopedic clinic: two novel variants in the
            CYP27A1 gene.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1895)
  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   5  (bases 1 to 1895)
  AUTHORS   Guo,Y.D., Strugnell,S., Back,D.W. and Jones,G.
  TITLE     Transfected human liver cytochrome P-450 hydroxylates vitamin D
            analogs at different side-chain positions
  JOURNAL   Proc Natl Acad Sci U S A 90 (18), 8668-8672 (1993)
   PUBMED   7690968
REFERENCE   6  (bases 1 to 1895)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   7  (bases 1 to 1895)
  AUTHORS   Federico,A. and Gallus,G.N.
  TITLE     Cerebrotendinous Xanthomatosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301583
REFERENCE   8  (bases 1 to 1895)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
REFERENCE   9  (bases 1 to 1895)
  AUTHORS   Cali,J.J., Hsieh,C.L., Francke,U. and Russell,D.W.
  TITLE     Mutations in the bile acid biosynthetic enzyme sterol
            27-hydroxylase underlie cerebrotendinous xanthomatosis
  JOURNAL   J Biol Chem 266 (12), 7779-7783 (1991)
   PUBMED   2019602
REFERENCE   10 (bases 1 to 1895)
  AUTHORS   Cali,J.J. and Russell,D.W.
  TITLE     Characterization of human sterol 27-hydroxylase. A mitochondrial
            cytochrome P-450 that catalyzes multiple oxidation reaction in bile
            acid biosynthesis
  JOURNAL   J Biol Chem 266 (12), 7774-7778 (1991)
   PUBMED   1708392
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X59812.1 and BC051851.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000784.3.
            
            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 mitochondrial protein oxidizes cholesterol intermediates as
            part of the bile synthesis pathway. Since the conversion of
            cholesterol to bile acids is the major route for removing
            cholesterol from the body, this protein is important for overall
            cholesterol homeostasis. Mutations in this gene cause
            cerebrotendinous xanthomatosis, a rare autosomal recessive lipid
            storage disease. [provided by RefSeq, Jul 2008].
            
            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 :: X59812.1, SRR3476690.1150863.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000258415.9/
                                                  ENSP00000258415.4
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                X59812.1           166-189
            25-1895             BC051851.1         1-1871
FEATURES             Location/Qualifiers
     source          1..1895
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..1895
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
                     /note="cytochrome P450 family 27 subfamily A member 1"
                     /db_xref="GeneID:1593"
                     /db_xref="HGNC:HGNC:2605"
                     /db_xref="MIM:606530"
     exon            1..291
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..1632
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
                     /EC_number="1.14.15.15"
                     /note="cytochrome P-450C27/25; sterol 27-hydroxylase;
                     vitamin D(3) 25-hydroxylase; 5-beta-cholestane-3-alpha,
                     7-alpha, 12-alpha-triol 27-hydroxylase;
                     5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol
                     26-hydroxylase; cytochrome P450, subfamily XXVIIA (steroid
                     27-hydroxylase, cerebrotendinous xanthomatosis),
                     polypeptide 1; cholestanetriol 26-monooxygenase; sterol
                     26-hydroxylase, mitochondrial; cytochrome P450 27;
                     cytochrome P450, family 27, subfamily A, polypeptide 1"
                     /codon_start=1
                     /product="sterol 26-hydroxylase, mitochondrial precursor"
                     /protein_id="NP_000775.1"
                     /db_xref="CCDS:CCDS2423.1"
                     /db_xref="GeneID:1593"
                     /db_xref="HGNC:HGNC:2605"
                     /db_xref="MIM:606530"
                     /translation="MAALGCARLRWALRGAGRGLCPHGARAKAAIPAALPSDKATGAP
                     GAGPGVRRRQRSLEEIPRLGQLRFFFQLFVQGYALQLHQLQVLYKAKYGPMWMSYLGP
                     QMHVNLASAPLLEQVMRQEGKYPVRNDMELWKEHRDQHDLTYGPFTTEGHHWYQLRQA
                     LNQRLLKPAEAALYTDAFNEVIDDFMTRLDQLRAESASGNQVSDMAQLFYYFALEAIC
                     YILFEKRIGCLQRSIPEDTVTFVRSIGLMFQNSLYATFLPKWTRPVLPFWKRYLDGWN
                     AIFSFGKKLIDEKLEDMEAQLQAAGPDGIQVSGYLHFLLASGQLSPREAMGSLPELLM
                     AGVDTTSNTLTWALYHLSKDPEIQEALHEEVVGVVPAGQVPQHKDFAHMPLLKAVLKE
                     TLRLYPVVPTNSRIIEKEIEVDGFLFPKNTQFVFCHYVVSRDPTAFSEPESFQPHRWL
                     RNSQPATPRIQHPFGSVPFGYGVRACLGRRIAELEMQLLLARLIQKYKVVLAPETGEL
                     KSVARIVLVPNKKVGLQFLQRQC"
     exon            292..482
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
                     /inference="alignment:Splign:2.1.0"
     exon            483..682
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
                     /inference="alignment:Splign:2.1.0"
     exon            683..880
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
                     /inference="alignment:Splign:2.1.0"
     exon            881..1053
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
                     /inference="alignment:Splign:2.1.0"
     exon            1054..1220
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
                     /inference="alignment:Splign:2.1.0"
     exon            1221..1299
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
                     /inference="alignment:Splign:2.1.0"
     exon            1300..1512
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
                     /inference="alignment:Splign:2.1.0"
     exon            1513..1895
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1868..1873
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
                     /note="hexamer: AATAAA"
     polyA_site      1895
                     /gene="CYP27A1"
                     /gene_synonym="CP27; CTX; CYP27"
                     /note="major polyA site"
ORIGIN      
        1 actcgaccca aaggtgcagg cgcgcgagca caacccatgg ctgcgctggg ctgcgcgagg
       61 ctgaggtggg cgctgcgagg ggccggccgt ggcctctgcc cccacggggc cagagccaag
      121 gccgcgatcc ctgccgccct cccctcggac aaggccaccg gagctcccgg agccgggcct
      181 ggtgtccggc ggcggcaacg gagcttagag gagattccac gtctaggaca gctgcgcttc
      241 ttctttcagc tgttcgttca aggctatgcc ctgcaactgc accagttaca ggtgctttac
      301 aaggccaagt acggtccaat gtggatgtcc tacttagggc ctcagatgca cgtgaacctg
      361 gccagtgccc cgctcttgga gcaagtgatg cggcaagagg gcaagtaccc agtacggaac
      421 gacatggagc tatggaagga gcaccgggac cagcacgacc tgacctatgg gccgttcacc
      481 acggaaggac accactggta ccagctgcgc caggctctga accagcggtt gctgaagcca
      541 gcggaagcag cgctctatac ggatgctttc aatgaggtga ttgatgactt tatgactcga
      601 ctggaccagc tgcgggcaga gagtgcttcg gggaaccagg tgtcggacat ggctcaactc
      661 ttctactact ttgccttgga agctatttgc tacatcctgt tcgagaaacg cattggctgc
      721 ctgcagcgat ccatccccga ggacaccgtg accttcgtca gatccatcgg gttaatgttc
      781 cagaactcac tctatgccac cttcctcccc aagtggactc gccccgtgct gcctttctgg
      841 aagcgatacc tggatggttg gaatgccatc ttttcctttg ggaagaagct gattgatgag
      901 aagctcgaag atatggaggc ccaactgcag gcagcagggc cagatggcat ccaggtgtct
      961 ggctacctgc acttcttact ggccagtgga cagctcagtc ctcgggaggc catgggcagc
     1021 ctgcctgagc tgctcatggc tggagtggac acgacatcca acacgctgac atgggccctg
     1081 taccacctct caaaggaccc tgagatccag gaggccttgc acgaggaagt ggtgggtgtg
     1141 gtgccagccg ggcaagtgcc ccagcacaag gactttgccc acatgccgtt gctcaaagct
     1201 gtgcttaagg agactctgcg tctctaccct gtggtcccca caaactcccg gatcatagaa
     1261 aaggaaattg aagttgatgg cttcctcttc cccaagaaca cccagtttgt gttctgccac
     1321 tatgtggtgt cccgggaccc cactgccttc tctgagcctg aaagcttcca gccccaccgc
     1381 tggctgagaa acagccagcc tgctaccccc aggatccagc acccatttgg ctctgtgccc
     1441 tttggctatg gggtccgggc ctgcctgggc cgcaggattg cagagctgga gatgcagcta
     1501 ctcctcgcaa ggctgatcca gaagtacaag gtggtcctgg ccccggagac gggggagttg
     1561 aagagtgtgg cccgcattgt cctggttccc aataagaaag tgggcctgca gttcctgcag
     1621 agacagtgct gagctgagtc tccgccttgc tggggcttgt cctagaggct ccagctctgg
     1681 cacagtggtt cctggctgct gccatgtctc agatgaggag ggagagaagg aggccgccag
     1741 actcgagagg tgggaggaac tccttgcaca caccctgagc ttttgccact tctatcattt
     1801 ttgagcaact ccctctcagc taaaaggcca cccctttatc gcattgctgt ccttgggtag
     1861 aatataaaat aaagggactt ttatttctta ttgga
//
