LOCUS       NM_010010               2127 bp    mRNA    linear   ROD 14-MAY-2024
DEFINITION  Mus musculus cytochrome P450, family 46, subfamily a, polypeptide 1
            (Cyp46a1), transcript variant 1, mRNA.
ACCESSION   NM_010010 XM_981091
VERSION     NM_010010.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2127)
  AUTHORS   Shu,H.J., Ziolkowski,L.H., Salvatore,S.V., Benz,A.M., Wozniak,D.F.,
            Yuede,C.M., Paul,S.M., Zorumski,C.F. and Mennerick,S.
  TITLE     Effects of Complete and Partial Loss of the
            24S-Hydroxycholesterol-Generating Enzyme Cyp46a1 on Behavior and
            Hippocampal Transcription in Mouse
  JOURNAL   Biomolecules 14 (3), 254 (2024)
   PUBMED   38540675
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2127)
  AUTHORS   Latorre-Leal,M., Rodriguez-Rodriguez,P., Franchini,L.,
            Nikolidakis,O., Daniilidou,M., Delac,L., Varshney,M.K.,
            Arroyo-Garcia,L.E., Eroli,F., Winblad,B., Blennow,K.,
            Zetterberg,H., Kivipelto,M., Pacciarini,M., Wang,Y.,
            Griffiths,W.J., Bjorkhem,I., Matton,A., Nalvarte,I.,
            Merino-Serrais,P., Cedazo-Minguez,A. and Maioli,S.
  TITLE     CYP46A1-mediated cholesterol turnover induces sex-specific changes
            in cognition and counteracts memory loss in ovariectomized mice
  JOURNAL   Sci Adv 10 (4), eadj1354 (2024)
   PUBMED   38266095
  REMARK    GeneRIF: CYP46A1-mediated cholesterol turnover induces sex-specific
            changes in cognition and counteracts memory loss in ovariectomized
            mice.
REFERENCE   3  (bases 1 to 2127)
  AUTHORS   Tsitsou-Kampeli,A., Suzzi,S., Kenigsbuch,M., Satomi,A.,
            Strobelt,R., Singer,O., Feldmesser,E., Purnapatre,M.,
            Colaiuta,S.P., David,E., Cahalon,L., Hahn,O., Wyss-Coray,T.,
            Shaul,Y., Amit,I. and Schwartz,M.
  TITLE     Cholesterol 24-hydroxylase at the choroid plexus contributes to
            brain immune homeostasis
  JOURNAL   Cell Rep Med 4 (11), 101278 (2023)
   PUBMED   37944529
  REMARK    GeneRIF: Cholesterol 24-hydroxylase at the choroid plexus
            contributes to brain immune homeostasis.
REFERENCE   4  (bases 1 to 2127)
  AUTHORS   Cataldi,G.G., Elorza,S.D., Toledano-Zaragoza,A., de Olmos,S.,
            Cragnolini,A.B. and Martin,M.G.
  TITLE     Cholesterol-24-hydroxylase (CYP46) in the old brain: Analysis of
            positive populations and factors triggering its expression in
            astrocytes
  JOURNAL   J Comp Neurol 531 (3), 486-499 (2023)
   PUBMED   36453552
  REMARK    GeneRIF: Cholesterol-24-hydroxylase (CYP46) in the old brain:
            Analysis of positive populations and factors triggering its
            expression in astrocytes.
REFERENCE   5  (bases 1 to 2127)
  AUTHORS   Shinohara,Y., Ando,H., Maekawa,M., Arai,M., Horibata,Y., Satou,M.,
            Jojima,T., Usui,I., Aso,Y. and Sugimoto,H.
  TITLE     Transcription of cytochrome P450 46A1 in NIH3T3 cells is negatively
            regulated by FBS
  JOURNAL   Biochim Biophys Acta Mol Cell Biol Lipids 1867 (6), 159136 (2022)
   PUBMED   35306146
  REMARK    GeneRIF: Transcription of cytochrome P450 46A1 in NIH3T3 cells is
            negatively regulated by FBS.
REFERENCE   6  (bases 1 to 2127)
  AUTHORS   Xie,C., Lund,E.G., Turley,S.D., Russell,D.W. and Dietschy,J.M.
  TITLE     Quantitation of two pathways for cholesterol excretion from the
            brain in normal mice and mice with neurodegeneration
  JOURNAL   J Lipid Res 44 (9), 1780-1789 (2003)
   PUBMED   12810827
REFERENCE   7  (bases 1 to 2127)
  AUTHORS   Lund,E.G., Xie,C., Kotti,T., Turley,S.D., Dietschy,J.M. and
            Russell,D.W.
  TITLE     Knockout of the cholesterol 24-hydroxylase gene in mice reveals a
            brain-specific mechanism of cholesterol turnover
  JOURNAL   J Biol Chem 278 (25), 22980-22988 (2003)
   PUBMED   12686551
  REMARK    GeneRIF: constitutes a major tissue-specific pathway for
            cholesterol turnover in the brain
REFERENCE   8  (bases 1 to 2127)
  AUTHORS   Choudhary,D., Jansson,I., Schenkman,J.B., Sarfarazi,M. and
            Stoilov,I.
  TITLE     Comparative expression profiling of 40 mouse cytochrome P450 genes
            in embryonic and adult tissues
  JOURNAL   Arch Biochem Biophys 414 (1), 91-100 (2003)
   PUBMED   12745259
REFERENCE   9  (bases 1 to 2127)
  AUTHORS   Kolsch,H., Lutjohann,D., Ludwig,M., Schulte,A., Ptok,U., Jessen,F.,
            von Bergmann,K., Rao,M.L., Maier,W. and Heun,R.
  TITLE     Polymorphism in the cholesterol 24S-hydroxylase gene is associated
            with Alzheimer's disease
  JOURNAL   Mol Psychiatry 7 (8), 899-902 (2002)
   PUBMED   12232784
  REMARK    GeneRIF: the CYP46 gene locus may predispose to Alzheimer's disease
            by increasing the 24S-hydroxycholesterol/cholesterol ratio in the
            brain.
REFERENCE   10 (bases 1 to 2127)
  AUTHORS   Lund,E.G., Guileyardo,J.M. and Russell,D.W.
  TITLE     cDNA cloning of cholesterol 24-hydroxylase, a mediator of
            cholesterol homeostasis in the brain
  JOURNAL   Proc Natl Acad Sci U S A 96 (13), 7238-7243 (1999)
   PUBMED   10377398
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY238426.1 and AF094479.1.
            
            On Jul 18, 2022 this sequence version replaced NM_010010.2.
            
            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 :: AF094479.1, BC018307.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849379
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 BY238426.1         58-66
            10-2127             AF094479.1         1-2118
FEATURES             Location/Qualifiers
     source          1..2127
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="12"
                     /map="12 59.41 cM"
     gene            1..2127
                     /gene="Cyp46a1"
                     /gene_synonym="CH24H; Cyp46"
                     /note="cytochrome P450, family 46, subfamily a,
                     polypeptide 1"
                     /db_xref="GeneID:13116"
                     /db_xref="MGI:MGI:1341877"
     exon            1..193
                     /gene="Cyp46a1"
                     /gene_synonym="CH24H; Cyp46"
                     /inference="alignment:Splign:2.1.0"
     CDS             75..1577
                     /gene="Cyp46a1"
                     /gene_synonym="CH24H; Cyp46"
                     /EC_number="1.14.14.25"
                     /note="cytochrome P450, 46a1 (cholesterol 24-hydroxylase);
                     cholestrol 24-hydroxylase; cholesterol 24S-hydroxylase;
                     cholesterol 24-monooxygenase"
                     /codon_start=1
                     /product="cholesterol 24-hydroxylase"
                     /protein_id="NP_034140.1"
                     /db_xref="CCDS:CCDS26160.1"
                     /db_xref="GeneID:13116"
                     /db_xref="MGI:MGI:1341877"
                     /translation="MSPGLLLLGSAVLLAFGLCCTFVHRARSRYEHIPGPPRPSFLLG
                     HLPYFWKKDEDCGRVLQDVFLDWAKKYGPVVRVNVFYKTSVIVTSPESVKKFLMSTKY
                     NKDSKMYRALQTVFGERLFGQGLVSECDYGRWYKQRKVMDLAFSRSSLVSLMETFNEK
                     AEQLVEILEAKADGQTPVSMQDMLTCATIDILAKAAFGMETSMLLGAQKPLSQAVKVM
                     LEGISASRNTLAKFMPGKRKQLREIRESIRLLRQVGKDWVQRRREALKRGEDMPADIL
                     TQILKAEEGAQDDEVLLDNFVTFFIAGHETSANHLAFTVMELSRQPEIVARLQAEVDE
                     VVGSKRHLDYEDLGRLQYLSQVLKESLRLYPPAWGTFRLLEEETLIDGVRVPGNTPLL
                     FSTYVMGRMDTYFEDPLTFNPDRFGPGAPKPRFTYFPFSLGHRSCIGQQFAQMEVKVV
                     MAKLLQRIEFRLVPGQRFGLQEQATLKPLDPVLCTLRPRGWQPAPPPPPC"
     exon            194..274
                     /gene="Cyp46a1"
                     /gene_synonym="CH24H; Cyp46"
                     /inference="alignment:Splign:2.1.0"
     exon            275..356
                     /gene="Cyp46a1"
                     /gene_synonym="CH24H; Cyp46"
                     /inference="alignment:Splign:2.1.0"
     exon            357..430
                     /gene="Cyp46a1"
                     /gene_synonym="CH24H; Cyp46"
                     /inference="alignment:Splign:2.1.0"
     exon            431..517
                     /gene="Cyp46a1"
                     /gene_synonym="CH24H; Cyp46"
                     /inference="alignment:Splign:2.1.0"
     exon            518..656
                     /gene="Cyp46a1"
                     /gene_synonym="CH24H; Cyp46"
                     /inference="alignment:Splign:2.1.0"
     exon            657..767
                     /gene="Cyp46a1"
                     /gene_synonym="CH24H; Cyp46"
                     /inference="alignment:Splign:2.1.0"
     exon            768..918
                     /gene="Cyp46a1"
                     /gene_synonym="CH24H; Cyp46"
                     /inference="alignment:Splign:2.1.0"
     exon            919..981
                     /gene="Cyp46a1"
                     /gene_synonym="CH24H; Cyp46"
                     /inference="alignment:Splign:2.1.0"
     exon            982..1054
                     /gene="Cyp46a1"
                     /gene_synonym="CH24H; Cyp46"
                     /inference="alignment:Splign:2.1.0"
     exon            1055..1139
                     /gene="Cyp46a1"
                     /gene_synonym="CH24H; Cyp46"
                     /inference="alignment:Splign:2.1.0"
     exon            1140..1250
                     /gene="Cyp46a1"
                     /gene_synonym="CH24H; Cyp46"
                     /inference="alignment:Splign:2.1.0"
     exon            1251..1339
                     /gene="Cyp46a1"
                     /gene_synonym="CH24H; Cyp46"
                     /inference="alignment:Splign:2.1.0"
     exon            1340..1406
                     /gene="Cyp46a1"
                     /gene_synonym="CH24H; Cyp46"
                     /inference="alignment:Splign:2.1.0"
     exon            1407..2127
                     /gene="Cyp46a1"
                     /gene_synonym="CH24H; Cyp46"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2107..2112
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Cyp46a1"
                     /gene_synonym="CH24H; Cyp46"
                     /note="hexamer: AATAAA"
     polyA_site      2127
                     /gene="Cyp46a1"
                     /gene_synonym="CH24H; Cyp46"
                     /note="major polyA site"
ORIGIN      
        1 gaggcggcgc gcagcgctga cagctagtcg gtcgcagcct ccggccccct ctgcaccggc
       61 gccgaccacg agccatgagc cccgggctgc tgctgctcgg cagcgccgtc ctgctcgcct
      121 tcggcctctg ctgcaccttc gtgcatcgcg ctcgcagccg ctatgagcac atccccgggc
      181 cgccgcggcc cagcttcctt cttggacatc tcccctactt ttggaaaaag gacgaagatt
      241 gtggccgtgt gctccaagat gtgtttctgg attgggctaa gaagtatggt cctgttgtaa
      301 gagtcaatgt cttctacaag acctcagtca ttgtcacgag tccggagtca gtcaagaagt
      361 tcctgatgtc caccaagtac aacaaggact ccaagatgta ccgcgcgctt cagactgtgt
      421 ttggggagag actgtttggc cagggcttgg tgtctgaatg tgactatggg cgctggtaca
      481 agcagaggaa agtcatggac ttggccttca gccgcagctc cttggtcagc ctgatggaga
      541 cgttcaacga gaaggcggag cagctggtgg aaatcctaga agctaaggca gatggacaga
      601 cacccgtgtc catgcaggac atgctgacct gtgccaccat cgacatcctg gccaaggcag
      661 cttttgggat ggagaccagt atgttactgg gtgcccagaa accgctgtcc caggcagtga
      721 aggtcatgct ggagggcatc agtgcatccc gtaacaccct ggcaaagttc atgccaggga
      781 agagaaagca gcttcgggag atccgcgaga gcatccgtct gctgcgccag gtggggaagg
      841 attgggtgca gcgccgccgc gaagccctga agaggggcga ggacatgccg gctgacatcc
      901 tcacgcagat cctcaaagct gaagagggag ctcaggacga tgaggttctg ctggacaact
      961 ttgtcacctt cttcattgcg ggtcatgaga cttctgccaa ccatctggca ttcacagtga
     1021 tggagttgtc tcgccagcca gagattgtgg caaggctgca ggccgaggtg gatgaggttg
     1081 tcggttccaa gaggcacctg gactacgagg atctggggag actgcagtat ctgtcgcagg
     1141 tcctcaaaga gtctctgagg ctgtacccgc cagcgtgggg cacctttcgc ctgctggagg
     1201 aggagacctt gattgatggg gtcagagtcc ctggcaatac tcctctcctg ttcagcacct
     1261 acgtcatggg gagaatggac acctactttg aagacccatt gactttcaac cctgaccgct
     1321 tcggccctgg agcgcccaag ccacggttca cttactttcc cttttccctg ggccaccggt
     1381 cctgcatcgg ccaacagttt gctcagatgg aggtgaaagt tgtcatggcc aagctgcttc
     1441 agaggatcga gttccggcta gtgcctgggc agcgctttgg gctgcaagag caggctacgc
     1501 tcaagccatt ggaccccgtg ctgtgcaccc tgaggccccg gggctggcag cctgcacccc
     1561 cacccccacc ctgctgagcc ctgggtaagg tcagactcct tggaccaggg cctcattggc
     1621 ccccattact gcccatggcc acccaccggc acccctgacc cttctgccac cttccacgat
     1681 ggctcctggc gagccctgtc ccctcgcctg cttcacaccc tcagtgcttc ctgtcatcgc
     1741 tggcttttca gctctttctg gtgggccctg cctgactccc agctatcacc acaactacca
     1801 tcgtctctcc caaacctccg aacttctgca ctggccacac cctcaaaaga gacaccctaa
     1861 ctcttgctca ctccctaaac tcttcaagtg acatgtcccc caggaagccc tgtttgcttc
     1921 tcacagccag gccagggtct ctcctctgtg ctcctacctc taacacactg accacactgt
     1981 attgtgaatg tttgctcatg tgaccagctg ccctgccagg ctgtgagggc cacagggcag
     2041 ggtctgtgtg cactttgcct ctgaggcccc tattgctcac tagggtctgg aacagagtcg
     2101 atgcccaata aacgtgtgtt gactgca
//
