LOCUS       NM_000781               1837 bp    mRNA    linear   PRI 12-AUG-2024
DEFINITION  Homo sapiens cytochrome P450 family 11 subfamily A member 1
            (CYP11A1), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_000781
VERSION     NM_000781.3
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 1837)
  AUTHORS   Zhang,Z., Huang,H., Chen,Z., Yan,M., Lu,C., Xu,Z. and Li,Z.
  TITLE     Helicobacter pylori promotes gastric cancer through CagA-mediated
            mitochondrial cholesterol accumulation by targeting CYP11A1
            redistribution
  JOURNAL   Int J Biol Sci 20 (10), 4007-4028 (2024)
   PUBMED   39113698
  REMARK    GeneRIF: Helicobacter pylori promotes gastric cancer through
            CagA-mediated mitochondrial cholesterol accumulation by targeting
            CYP11A1 redistribution.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1837)
  AUTHORS   McCarty,K.D., Liu,L., Tateishi,Y., Wapshott-Stehli,H.L. and
            Guengerich,F.P.
  TITLE     The multistep oxidation of cholesterol to pregnenolone by human
            cytochrome P450 11A1 is highly processive
  JOURNAL   J Biol Chem 300 (1), 105495 (2024)
   PUBMED   38006947
  REMARK    GeneRIF: The multistep oxidation of cholesterol to pregnenolone by
            human cytochrome P450 11A1 is highly processive.
REFERENCE   3  (bases 1 to 1837)
  AUTHORS   Zhu,Y.N., Pan,F., Gan,X.W., Liu,Y., Wang,W.S. and Sun,K.
  TITLE     The Role of DNMT1 and C/EBPalpha in the Regulation of CYP11A1
            Expression During Syncytialization of Human Placental Trophoblasts
  JOURNAL   Endocrinology 165 (2) (2023)
   PUBMED   38146648
  REMARK    GeneRIF: The Role of DNMT1 and C/EBPalpha in the Regulation of
            CYP11A1 Expression During Syncytialization of Human Placental
            Trophoblasts.
REFERENCE   4  (bases 1 to 1837)
  AUTHORS   Shi,D., Zhou,X., Cai,L., Wei,X., Zhang,L., Sun,Q., Zhou,F. and
            Sun,L.
  TITLE     Placental DNA methylation analysis of selective fetal growth
            restriction in monochorionic twins reveals aberrant methylated
            CYP11A1 gene for fetal growth restriction
  JOURNAL   FASEB J 37 (10), e23207 (2023)
   PUBMED   37732623
  REMARK    GeneRIF: Placental DNA methylation analysis of selective fetal
            growth restriction in monochorionic twins reveals aberrant
            methylated CYP11A1 gene for fetal growth restriction.
REFERENCE   5  (bases 1 to 1837)
  AUTHORS   Redouane,S., Harmak,H., Elkarhat,Z., Charoute,H., Malki,A.,
            Barakat,A. and Rouba,H.
  TITLE     Exploring the impact of CYP11A1's missense SNPs on the interaction
            between CYP11A1 and cholesterol: A comprehensive structural
            analysis and MD simulation study
  JOURNAL   Comput Biol Chem 106, 107937 (2023)
   PUBMED   37552904
  REMARK    GeneRIF: Exploring the impact of CYP11A1's missense SNPs on the
            interaction between CYP11A1 and cholesterol: A comprehensive
            structural analysis and MD simulation study.
REFERENCE   6  (bases 1 to 1837)
  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 1837)
  AUTHORS   Wada,A. and Waterman,M.R.
  TITLE     Identification by site-directed mutagenesis of two lysine residues
            in cholesterol side chain cleavage cytochrome P450 that are
            essential for adrenodoxin binding
  JOURNAL   J Biol Chem 267 (32), 22877-22882 (1992)
   PUBMED   1429635
REFERENCE   8  (bases 1 to 1837)
  AUTHORS   Coghlan,V.M. and Vickery,L.E.
  TITLE     Site-specific mutations in human ferredoxin that affect binding to
            ferredoxin reductase and cytochrome P450scc
  JOURNAL   J Biol Chem 266 (28), 18606-18612 (1991)
   PUBMED   1917982
REFERENCE   9  (bases 1 to 1837)
  AUTHORS   Sparkes,R.S., Klisak,I. and Miller,W.L.
  TITLE     Regional mapping of genes encoding human steroidogenic enzymes:
            P450scc to 15q23-q24, adrenodoxin to 11q22; adrenodoxin reductase
            to 17q24-q25; and P450c17 to 10q24-q25
  JOURNAL   DNA Cell Biol 10 (5), 359-365 (1991)
   PUBMED   1863359
REFERENCE   10 (bases 1 to 1837)
  AUTHORS   Hu,M.C., Guo,I.C., Lin,J.H. and Chung,B.C.
  TITLE     Regulated expression of cytochrome P-450scc (cholesterol-side-chain
            cleavage enzyme) in cultured cell lines detected by antibody
            against bacterially expressed human protein
  JOURNAL   Biochem J 274 (Pt 3) (Pt 3), 813-817 (1991)
   PUBMED   1849407
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX398579.2, BC032329.1 and
            AI149078.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000781.2.
            
            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 protein localizes to the mitochondrial inner membrane and
            catalyzes the conversion of cholesterol to pregnenolone, the first
            and rate-limiting step in the synthesis of the steroid hormones.
            Two transcript variants encoding different isoforms have been found
            for this gene. The cellular location of the smaller isoform is
            unclear since it lacks the mitochondrial-targeting transit peptide.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            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 :: AK292300.1, SRR5189667.171723.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162841, SAMN03267755
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000268053.11/
                                                  ENSP00000268053.6
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                BX398579.2         95-111
            18-1836             BC032329.1         1-1819
            1837-1837           AI149078.1         6-6                 c
FEATURES             Location/Qualifiers
     source          1..1837
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.1"
     gene            1..1837
                     /gene="CYP11A1"
                     /gene_synonym="CYP11A; CYPXIA1; P450SCC"
                     /note="cytochrome P450 family 11 subfamily A member 1"
                     /db_xref="GeneID:1583"
                     /db_xref="HGNC:HGNC:2590"
                     /db_xref="MIM:118485"
     exon            1..330
                     /gene="CYP11A1"
                     /gene_synonym="CYP11A; CYPXIA1; P450SCC"
                     /inference="alignment:Splign:2.1.0"
     exon            331..486
                     /gene="CYP11A1"
                     /gene_synonym="CYP11A; CYPXIA1; P450SCC"
                     /inference="alignment:Splign:2.1.0"
     exon            487..686
                     /gene="CYP11A1"
                     /gene_synonym="CYP11A; CYPXIA1; P450SCC"
                     /inference="alignment:Splign:2.1.0"
     exon            687..890
                     /gene="CYP11A1"
                     /gene_synonym="CYP11A; CYPXIA1; P450SCC"
                     /inference="alignment:Splign:2.1.0"
     exon            891..1051
                     /gene="CYP11A1"
                     /gene_synonym="CYP11A; CYPXIA1; P450SCC"
                     /inference="alignment:Splign:2.1.0"
     exon            1052..1218
                     /gene="CYP11A1"
                     /gene_synonym="CYP11A; CYPXIA1; P450SCC"
                     /inference="alignment:Splign:2.1.0"
     exon            1219..1297
                     /gene="CYP11A1"
                     /gene_synonym="CYP11A; CYPXIA1; P450SCC"
                     /inference="alignment:Splign:2.1.0"
     exon            1298..1495
                     /gene="CYP11A1"
                     /gene_synonym="CYP11A; CYPXIA1; P450SCC"
                     /inference="alignment:Splign:2.1.0"
     exon            1496..1837
                     /gene="CYP11A1"
                     /gene_synonym="CYP11A; CYPXIA1; P450SCC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1819..1824
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP11A1"
                     /gene_synonym="CYP11A; CYPXIA1; P450SCC"
                     /note="hexamer: AATAAA"
     polyA_site      1837
                     /gene="CYP11A1"
                     /gene_synonym="CYP11A; CYPXIA1; P450SCC"
                     /note="major polyA site"
ORIGIN      
        1 acagtcatcc tagcagtccc cgctgaagtg gagcaggtac agtcacagct gtggggacag
       61 catgctggcc aagggtcttc ccccacgctc agtcctggtc aaaggctgcc agacctttct
      121 gagtgccccc agggaggggc tggggcgtct cagggtgccc actggcgagg gagctggcat
      181 ctccacccgc agtcctcgcc ccttcaatga gatcccctct cctggtgaca atggctggct
      241 aaacctgtac catttctgga gggagacggg cacacacaaa gtccaccttc accatgtcca
      301 gaatttccag aagtatggcc cgatttacag ggagaagctc ggcaacgtgg agtcggttta
      361 tgtcatcgac cctgaagatg tggcccttct ctttaagtcc gagggcccca acccagaacg
      421 attcctcatc ccgccctggg tcgcctatca ccagtattac cagagaccca taggagtcct
      481 gttgaagaag tcggcagcct ggaagaaaga ccgggtggcc ctgaaccagg aggtgatggc
      541 tccagaggcc accaagaact ttttgcccct gttggatgca gtgtctcggg acttcgtcag
      601 tgtcctgcac aggcgcatca agaaggcggg ctccggaaat tactcggggg acatcagtga
      661 tgacctgttc cgctttgcct ttgagtccat cactaacgtc atttttgggg agcgccaggg
      721 gatgctggag gaagtagtga accccgaggc ccagcgattc attgatgcca tctaccagat
      781 gttccacacc agcgtcccca tgctcaacct tcccccagac ctgttccgtc tgttcaggac
      841 caagacctgg aaggaccatg tggctgcatg ggacgtgatt ttcagtaaag ctgacatata
      901 cacccagaac ttctactggg aattgagaca gaaaggaagt gttcaccacg attaccgtgg
      961 catcctctac agactcctgg gagacagcaa gatgtccttc gaggacatca aggccaacgt
     1021 cacagagatg ctggcaggag gggtggacac gacgtccatg accctgcagt ggcacttgta
     1081 tgagatggca cgcaacctga aggtgcagga tatgctgcgg gcagaggtct tggctgcgcg
     1141 gcaccaggcc cagggagaca tggccacgat gctacagctg gtccccctcc tcaaagccag
     1201 catcaaggag acactaagac ttcaccccat ctccgtgacc ctgcagagat atcttgtaaa
     1261 tgacttggtt cttcgagatt acatgattcc tgccaagaca ctggtgcaag tggccatcta
     1321 tgctctgggc cgagagccca ccttcttctt cgacccggaa aattttgacc caacccgatg
     1381 gctgagcaaa gacaagaaca tcacctactt ccggaacttg ggctttggct ggggtgtgcg
     1441 gcagtgtctg ggacggcgga tcgctgagct agagatgacc atcttcctca tcaatatgct
     1501 ggagaacttc agagttgaaa tccaacacct cagcgatgtg ggcaccacat tcaacctcat
     1561 tctgatgcct gaaaagccca tctccttcac cttctggccc tttaaccagg aagcaaccca
     1621 gcagtgatca gagaggatgg cctgcagcca catgggagga aggcccaggg gtggggccca
     1681 tggggtctct gcatcttcag tcgtctgtcc caagtcctgc tcctttctgc ccagcctgct
     1741 cagcaggttg aatgggttct cagtggtcac cttcctcagc tcagctgggc cactcctctt
     1801 cacccacccc atggagacaa taaacagctg aaccatg
//
