LOCUS       NM_006668               2197 bp    mRNA    linear   PRI 02-MAY-2024
DEFINITION  Homo sapiens cytochrome P450 family 46 subfamily A member 1
            (CYP46A1), mRNA.
ACCESSION   NM_006668
VERSION     NM_006668.2
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 2197)
  AUTHORS   Serna-Rodriguez,M.F., Cienfuegos-Jimenez,O., Cerda-Flores,R.M.,
            Marino-Martinez,I.A., Hernandez-Ordonez,M.A., Ontiveros-Sanchez de
            la Barquera,J.A. and Perez-Maya,A.A.
  TITLE     The Relationship Between CYP46A1 Polymorphism and Suicide Risk: A
            Preliminary Investigation
  JOURNAL   Neuromolecular Med 26 (1), 11 (2024)
   PUBMED   38592597
  REMARK    GeneRIF: The Relationship Between CYP46A1 Polymorphism and Suicide
            Risk: A Preliminary Investigation.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2197)
  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   3  (bases 1 to 2197)
  AUTHORS   Myung,D.S., Oh,H.H., Kim,J.S., Lim,J.W., Lim,C.J., Gim,S.E.,
            Seo,Y.E., Ma,K.Y., You,G.R., Im,C.M., Han,B., Seo,Y.J., Park,S.Y.,
            Park,Y.L. and Joo,Y.E.
  TITLE     Cytochrome P450 Family 46 Subfamily A Member 1 Promotes the
            Progression of Colorectal Cancer by Inducing Tumor Cell
            Proliferation and Angiogenesis
  JOURNAL   Anticancer Res 43 (11), 4915-4922 (2023)
   PUBMED   37909961
  REMARK    GeneRIF: Cytochrome P450 Family 46 Subfamily A Member 1 Promotes
            the Progression of Colorectal Cancer by Inducing Tumor Cell
            Proliferation and Angiogenesis.
REFERENCE   4  (bases 1 to 2197)
  AUTHORS   Sezer,E., Can Demirdogen,B., Demirkaya,S., Bulut,G., Akkulak,M.,
            Evin,E. and Adali,O.
  TITLE     Association of cholesterol 7alpha-hydroxylase (CYP7A1) promoter
            polymorphism (rs3808607) and cholesterol 24S-hydroxylase (CYP46A1)
            intron 2 polymorphism (rs754203) with serum lipids, vitamin D
            levels, and multiple sclerosis risk in the Turkish population
  JOURNAL   Neurol Sci 43 (4), 2611-2620 (2022)
   PUBMED   34546511
  REMARK    GeneRIF: Association of cholesterol 7alpha-hydroxylase (CYP7A1)
            promoter polymorphism (rs3808607) and cholesterol 24S-hydroxylase
            (CYP46A1) intron 2 polymorphism (rs754203) with serum lipids,
            vitamin D levels, and multiple sclerosis risk in the Turkish
            population.
REFERENCE   5  (bases 1 to 2197)
  AUTHORS   Si,Z., Guan,X., Teng,X., Peng,X., Wan,Z., Li,Q., Chen,G., Tan,J.
            and Li,J.
  TITLE     Identification of CYP46A1 as a new regulator of lipid metabolism
            through CRISPR-based whole-genome screening
  JOURNAL   FASEB J 34 (10), 13776-13791 (2020)
   PUBMED   32816363
  REMARK    GeneRIF: Identification of CYP46A1 as a new regulator of lipid
            metabolism through CRISPR-based whole-genome screening.
REFERENCE   6  (bases 1 to 2197)
  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 2197)
  AUTHORS   Bogdanovic,N., Bretillon,L., Lund,E.G., Diczfalusy,U., Lannfelt,L.,
            Winblad,B., Russell,D.W. and Bjorkhem,I.
  TITLE     On the turnover of brain cholesterol in patients with Alzheimer's
            disease. Abnormal induction of the cholesterol-catabolic enzyme
            CYP46 in glial cells
  JOURNAL   Neurosci Lett 314 (1-2), 45-48 (2001)
   PUBMED   11698143
REFERENCE   8  (bases 1 to 2197)
  AUTHORS   Russell,D.W.
  TITLE     Oxysterol biosynthetic enzymes
  JOURNAL   Biochim Biophys Acta 1529 (1-3), 126-135 (2000)
   PUBMED   11111082
  REMARK    Review article
REFERENCE   9  (bases 1 to 2197)
  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
REFERENCE   10 (bases 1 to 2197)
  AUTHORS   Bjorkhem,I., Lutjohann,D., Diczfalusy,U., Stahle,L., Ahlborg,G. and
            Wahren,J.
  TITLE     Cholesterol homeostasis in human brain: turnover of
            24S-hydroxycholesterol and evidence for a cerebral origin of most
            of this oxysterol in the circulation
  JOURNAL   J Lipid Res 39 (8), 1594-1600 (1998)
   PUBMED   9717719
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL160313.4 and AF094480.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_006668.1.
            
            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 is expressed in the brain, where
            it converts cholesterol to 24S-hydroxycholesterol. While
            cholesterol cannot pass the blood-brain barrier,
            24S-hydroxycholesterol can be secreted in the brain into the
            circulation to be returned to the liver for catabolism. [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 :: AF094480.1, BC022539.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261835.8/ ENSP00000261835.3
            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
            1-120               AL160313.4         27273-27392         c
            121-2197            AF094480.1         1-2077
FEATURES             Location/Qualifiers
     source          1..2197
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.2"
     gene            1..2197
                     /gene="CYP46A1"
                     /gene_synonym="CP46; CYP46"
                     /note="cytochrome P450 family 46 subfamily A member 1"
                     /db_xref="GeneID:10858"
                     /db_xref="HGNC:HGNC:2641"
                     /db_xref="MIM:604087"
     exon            1..239
                     /gene="CYP46A1"
                     /gene_synonym="CP46; CYP46"
                     /inference="alignment:Splign:2.1.0"
     CDS             121..1623
                     /gene="CYP46A1"
                     /gene_synonym="CP46; CYP46"
                     /EC_number="1.14.14.25"
                     /note="cytochrome P450, subfamily 46 (cholesterol
                     24-hydroxylase); CH24H; cytochrome P450 46A1; cytochrome
                     P450, family 46, subfamily A, polypeptide 1; cholesterol
                     24S-hydroxylase; cholesterol 24-monooxygenase"
                     /codon_start=1
                     /product="cholesterol 24-hydroxylase"
                     /protein_id="NP_006659.1"
                     /db_xref="CCDS:CCDS9954.1"
                     /db_xref="GeneID:10858"
                     /db_xref="HGNC:HGNC:2641"
                     /db_xref="MIM:604087"
                     /translation="MSPGLLLLGSAVLLAFGLCCTFVHRARSRYEHIPGPPRPSFLLG
                     HLPCFWKKDEVGGRVLQDVFLDWAKKYGPVVRVNVFHKTSVIVTSPESVKKFLMSTKY
                     NKDSKMYRALQTVFGERLFGQGLVSECNYERWHKQRRVIDLAFSRSSLVSLMETFNEK
                     AEQLVEILEAKADGQTPVSMQDMLTYTAMDILAKAAFGMETSMLLGAQKPLSQAVKLM
                     LEGITASRNTLAKFLPGKRKQLREVRESIRFLRQVGRDWVQRRREALKRGEEVPADIL
                     TQILKAEEGAQDDEGLLDNFVTFFIAGHETSANHLAFTVMELSRQPEIVARLQAEVDE
                     VIGSKRYLDFEDLGRLQYLSQVLKESLRLYPPAWGTFRLLEEETLIDGVRVPGNTPLL
                     FSTYVMGRMDTYFEDPLTFNPDRFGPGAPKPRFTYFPFSLGHRSCIGQQFAQMEVKVV
                     MAKLLQRLEFRLVPGQRFGLQEQATLKPLDPVLCTLRPRGWQPAPPPPPC"
     exon            240..320
                     /gene="CYP46A1"
                     /gene_synonym="CP46; CYP46"
                     /inference="alignment:Splign:2.1.0"
     exon            321..402
                     /gene="CYP46A1"
                     /gene_synonym="CP46; CYP46"
                     /inference="alignment:Splign:2.1.0"
     exon            403..476
                     /gene="CYP46A1"
                     /gene_synonym="CP46; CYP46"
                     /inference="alignment:Splign:2.1.0"
     exon            477..563
                     /gene="CYP46A1"
                     /gene_synonym="CP46; CYP46"
                     /inference="alignment:Splign:2.1.0"
     exon            564..702
                     /gene="CYP46A1"
                     /gene_synonym="CP46; CYP46"
                     /inference="alignment:Splign:2.1.0"
     exon            703..813
                     /gene="CYP46A1"
                     /gene_synonym="CP46; CYP46"
                     /inference="alignment:Splign:2.1.0"
     exon            814..964
                     /gene="CYP46A1"
                     /gene_synonym="CP46; CYP46"
                     /inference="alignment:Splign:2.1.0"
     exon            965..1027
                     /gene="CYP46A1"
                     /gene_synonym="CP46; CYP46"
                     /inference="alignment:Splign:2.1.0"
     exon            1028..1100
                     /gene="CYP46A1"
                     /gene_synonym="CP46; CYP46"
                     /inference="alignment:Splign:2.1.0"
     exon            1101..1185
                     /gene="CYP46A1"
                     /gene_synonym="CP46; CYP46"
                     /inference="alignment:Splign:2.1.0"
     exon            1186..1296
                     /gene="CYP46A1"
                     /gene_synonym="CP46; CYP46"
                     /inference="alignment:Splign:2.1.0"
     exon            1297..1385
                     /gene="CYP46A1"
                     /gene_synonym="CP46; CYP46"
                     /inference="alignment:Splign:2.1.0"
     exon            1386..1452
                     /gene="CYP46A1"
                     /gene_synonym="CP46; CYP46"
                     /inference="alignment:Splign:2.1.0"
     exon            1453..2197
                     /gene="CYP46A1"
                     /gene_synonym="CP46; CYP46"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2177..2182
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP46A1"
                     /gene_synonym="CP46; CYP46"
                     /note="hexamer: AATAAA"
     polyA_site      2197
                     /gene="CYP46A1"
                     /gene_synonym="CP46; CYP46"
                     /note="major polyA site"
ORIGIN      
        1 gggtcgcgcc tggcctgggg ccgaggcggc gcgcggcgct gacagctgag tcggctcgcg
       61 gcctcccggc cccctcggcg cccggcccga ccctggcctg gcctgccctg ccccggagcc
      121 atgagccccg ggctgctgct gctcggcagc gccgtcctgc tcgccttcgg cctctgctgc
      181 accttcgtgc accgcgctcg cagccgctac gagcacatcc ccgggccgcc gcggcccagt
      241 ttccttctag gacacctccc ctgcttttgg aaaaaggatg aggttggtgg ccgtgtgctc
      301 caagatgtgt ttttggattg ggctaagaag tatggacctg ttgtgcgggt caacgtcttc
      361 cacaaaacct cagtcatcgt cacgagtcct gagtcggtta agaagttcct gatgtcaacc
      421 aagtacaaca aggactccaa gatgtaccgt gcgctccaga ctgtgtttgg tgagagactc
      481 ttcggccaag gcttggtgtc cgaatgcaac tatgagcgct ggcacaagca gcggagagtc
      541 atagacctgg ccttcagccg gagctccttg gttagcttaa tggaaacatt caacgagaag
      601 gctgagcagc tggtggagat tctagaagcc aaggcagatg ggcagacccc agtgtccatg
      661 caggacatgc tgacctacac cgccatggac atcctggcca aggcagcttt tgggatggag
      721 accagtatgc tgctgggtgc ccagaagcct ctgtcccagg cagtgaaact tatgttggag
      781 ggaatcactg cgtcccgcaa cactctggca aagttcctgc cagggaagag gaagcagctc
      841 cgggaggtcc gggagagcat tcgcttcctg cgccaggtgg gcagggactg ggtccagcgc
      901 cgccgggaag ccctgaagag gggcgaggag gttcctgccg acatcctcac acagattctg
      961 aaagctgaag agggagccca ggacgacgag ggtctgctgg acaacttcgt caccttcttc
     1021 attgctggtc acgagacctc tgccaaccac ttggcgttca cagtgatgga gctgtctcgc
     1081 cagccagaga tcgtggcaag gctgcaggcc gaggtggatg aggtcattgg ttctaagagg
     1141 tacctggatt tcgaggacct ggggagactg cagtacctgt cccaggtcct caaagagtcg
     1201 ctgaggctgt acccaccagc atggggcacc tttcgcctgc tggaagagga gaccttgatt
     1261 gatggggtca gagtccccgg caacaccccg ctcttgttca gcacctatgt catggggcgg
     1321 atggacacat actttgagga cccgctgact ttcaaccccg atcgcttcgg ccctggagca
     1381 cccaagccac ggttcaccta cttccccttc tccctgggcc accgctcctg catcgggcag
     1441 cagtttgctc agatggaggt gaaggtggtc atggcaaagc tgctgcagag gctggagttc
     1501 cggctggtgc ccgggcagcg cttcgggctg caggagcagg ccacactcaa gccactggac
     1561 cccgtgctgt gcaccctgcg gccccgcggc tggcagcccg cacccccacc acccccctgc
     1621 tgagggggcc tccaggcagg acgagactcc tcgggcaagg gccgtgcccg cccacctctg
     1681 ctgcccacgg ccacccaccc ttctcccctg ccccgtcccc tgggccaccc ttcacgctgg
     1741 cttccagcgg gccctctgcc gaccgcctgc ttcacacccc tcagcgctcc ctgtcgcctg
     1801 cggactccat ggcccttcct ggactggccc ttgcccaact cccagccacc accactgtcc
     1861 ctaccactga gcccttgcac aggccacttg ctcagacgag acaccctaac tcttgctcac
     1921 tccctaaagc cctcttcagg ggtcacctcc tccaagaagc cctccttgcc accccccgcc
     1981 ggcaggggcc cctcctctgt gctccctcgg tcacctgtgc tacctctaac accacactga
     2041 ccacactgta tcgtgagtgt ccgttgacgt gaccaattgc cctgccaggc tgtcagcgcc
     2101 tcaagggtag ggtctgcgtg tgatttgtct ctgagccccc tgtgcccacc cagggcccgg
     2161 cacagagtcg atgctcaata aatgtgtgtt gactgca
//
