LOCUS       NM_000782               3278 bp    mRNA    linear   PRI 05-AUG-2024
DEFINITION  Homo sapiens cytochrome P450 family 24 subfamily A member 1
            (CYP24A1), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_000782
VERSION     NM_000782.5
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 3278)
  AUTHORS   Lin,Y., Chen,J., Xin,S., Lin,Y., Chen,Y., Zhou,X., Chen,H. and
            Li,X.
  TITLE     CYP24A1 affected macrophage polarization through degradation of
            vitamin D as a candidate biomarker for ovarian cancer prognosis
  JOURNAL   Int Immunopharmacol 138, 112575 (2024)
   PUBMED   38963981
  REMARK    GeneRIF: CYP24A1 affected macrophage polarization through
            degradation of vitamin D as a candidate biomarker for ovarian
            cancer prognosis.
REFERENCE   2  (bases 1 to 3278)
  AUTHORS   Hernandez-Sarmiento,L.J., Valdes-Lopez,J.F. and Urcuqui-Inchima,S.
  TITLE     Zika virus infection suppresses CYP24A1 and CAMP expression in
            human monocytes
  JOURNAL   Arch Virol 169 (7), 135 (2024)
   PUBMED   38839691
  REMARK    GeneRIF: Zika virus infection suppresses CYP24A1 and CAMP
            expression in human monocytes.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3278)
  AUTHORS   Milan,K.L., Jayasuriya,R., Harithpriya,K., Anuradha,M. and
            Ramkumar,K.M.
  TITLE     MicroRNA-125b regulates vitamin D resistance by targeting CYP24A1
            in the progression of gestational diabetes mellitus
  JOURNAL   J Steroid Biochem Mol Biol 239, 106475 (2024)
   PUBMED   38350553
  REMARK    GeneRIF: MicroRNA-125b regulates vitamin D resistance by targeting
            CYP24A1 in the progression of gestational diabetes mellitus.
REFERENCE   4  (bases 1 to 3278)
  AUTHORS   Iriani,A., Rachman,A., Fatina,M.K., Gemilang,R.K., Trisnandi,A. and
            Nugraha,M.F.I.
  TITLE     Gene expression profiling of vitamin D metabolism enzymes in
            leukemia and lymphoma patients: molecular aspect interplay of VDR,
            CYP2R1, and CYP24A1
  JOURNAL   Mol Biol Rep 51 (1), 526 (2024)
   PUBMED   38632160
  REMARK    GeneRIF: Gene expression profiling of vitamin D metabolism enzymes
            in leukemia and lymphoma patients: molecular aspect interplay of
            VDR, CYP2R1, and CYP24A1.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3278)
  AUTHORS   Wang,Q., Chen,J.J., Wei,L.Y., Ding,Y., Liu,M., Li,W.J., Su,C. and
            Gong,C.X.
  TITLE     Biallelic and monoallelic pathogenic variants in CYP24A1 and
            SLC34A1 genes cause idiopathic infantile hypercalcemia
  JOURNAL   Orphanet J Rare Dis 19 (1), 126 (2024)
   PUBMED   38504242
  REMARK    GeneRIF: Biallelic and monoallelic pathogenic variants in CYP24A1
            and SLC34A1 genes cause idiopathic infantile hypercalcemia.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3278)
  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 3278)
  AUTHORS   Okuda,K., Usui,E. and Ohyama,Y.
  TITLE     Recent progress in enzymology and molecular biology of enzymes
            involved in vitamin D metabolism
  JOURNAL   J Lipid Res 36 (8), 1641-1652 (1995)
   PUBMED   7595086
  REMARK    Review article
REFERENCE   8  (bases 1 to 3278)
  AUTHORS   Chen,K.S. and DeLuca,H.F.
  TITLE     Cloning of the human 1 alpha,25-dihydroxyvitamin D-3 24-hydroxylase
            gene promoter and identification of two vitamin D-responsive
            elements
  JOURNAL   Biochim Biophys Acta 1263 (1), 1-9 (1995)
   PUBMED   7632726
REFERENCE   9  (bases 1 to 3278)
  AUTHORS   Chen,M.L., Heinrich,G., Ohyama,Y.I., Okuda,K., Omdahl,J.L.,
            Chen,T.C. and Holick,M.F.
  TITLE     Expression of 25-hydroxyvitamin D3-24-hydroxylase mRNA in cultured
            human keratinocytes
  JOURNAL   Proc Soc Exp Biol Med 207 (1), 57-61 (1994)
   PUBMED   7938037
REFERENCE   10 (bases 1 to 3278)
  AUTHORS   Robertson,N.G., Khetarpal,U., Gutierrez-Espeleta,G.A., Bieber,F.R.
            and Morton,C.C.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL138805.8, CN311231.1,
            BC109083.1, L13286.1, BI491491.1 and AW022349.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000782.4.
            
            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 initiates the degradation of
            1,25-dihydroxyvitamin D3, the physiologically active form of
            vitamin D3, by hydroxylation of the side chain. In regulating the
            level of vitamin D3, this enzyme plays a role in calcium
            homeostasis and the vitamin D endocrine system. Alternatively
            spliced transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) 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 :: L13286.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000216862.8/
                                                  ENSP00000216862.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 AL138805.8         76142-76150         c
            10-569              CN311231.1         1-560
            570-1643            BC109083.1         248-1321
            1644-2189           L13286.1           1627-2172
            2190-2666           BC109083.1         1670-2146
            2667-3111           BI491491.1         54-498
            3112-3275           AW022349.1         140-303
            3276-3278           AL138805.8         55610-55612         c
FEATURES             Location/Qualifiers
     source          1..3278
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.2"
     gene            1..3278
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /note="cytochrome P450 family 24 subfamily A member 1"
                     /db_xref="GeneID:1591"
                     /db_xref="HGNC:HGNC:2602"
                     /db_xref="MIM:126065"
     exon            1..665
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /inference="alignment:Splign:2.1.0"
     CDS             408..1952
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /EC_number="1.14.15.16"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; 1,25-@dihydroxyvitamin D3 24-hydroxylase;
                     vitamin D 24-hydroxylase; cytochrome P450, subfamily XXIV
                     (vitamin D 24-hydroxylase); lncBCAS1-4_1;
                     1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial;
                     24-OHase; exo-mitochondrial protein; cytochrome P450 24A1;
                     cytochrome P450-CC24; vitamin D(3) 24-hydroxylase;
                     cytochrome P450, family 24, subfamily A, polypeptide 1"
                     /codon_start=1
                     /product="1,25-dihydroxyvitamin D(3) 24-hydroxylase,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_000773.2"
                     /db_xref="CCDS:CCDS33491.1"
                     /db_xref="GeneID:1591"
                     /db_xref="HGNC:HGNC:2602"
                     /db_xref="MIM:126065"
                     /translation="MSSPISKSRSLAAFLQQLRSPRQPPRLVTSTAYTSPQPREVPVC
                     PLTAGGETQNAAALPGPTSWPLLGSLLQILWKGGLKKQHDTLVEYHKKYGKIFRMKLG
                     SFESVHLGSPCLLEALYRTESAYPQRLEIKPWKAYRDYRKEGYGLLILEGEDWQRVRS
                     AFQKKLMKPGEVMKLDNKINEVLADFMGRIDELCDERGHVEDLYSELNKWSFESICLV
                     LYEKRFGLLQKNAGDEAVNFIMAIKTMMSTFGRMMVTPVELHKSLNTKVWQDHTLAWD
                     TIFKSVKACIDNRLEKYSQQPSADFLCDIYHQNRLSKKELYAAVTELQLAAVETTANS
                     LMWILYNLSRNPQVQQKLLKEIQSVLPENQVPRAEDLRNMPYLKACLKESMRLTPSVP
                     FTTRTLDKATVLGEYALPKGTVLMLNTQVLGSSEDNFEDSSQFRPERWLQEKEKINPF
                     AHLPFGVGKRMCIGRRLAELQLHLALCWIVRKYDIQATDNEPVEMLHSGTLVPSRELP
                     IAFCQR"
     exon            666..856
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /inference="alignment:Splign:2.1.0"
     exon            857..950
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /inference="alignment:Splign:2.1.0"
     exon            951..1047
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /inference="alignment:Splign:2.1.0"
     exon            1048..1139
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /inference="alignment:Splign:2.1.0"
     exon            1140..1251
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /inference="alignment:Splign:2.1.0"
     exon            1252..1397
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /inference="alignment:Splign:2.1.0"
     exon            1398..1564
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /inference="alignment:Splign:2.1.0"
     exon            1565..1643
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /inference="alignment:Splign:2.1.0"
     exon            1644..1841
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /inference="alignment:Splign:2.1.0"
     exon            1842..1962
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /inference="alignment:Splign:2.1.0"
     exon            1963..3278
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3138..3143
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /note="hexamer: AATAAA"
     polyA_site      3161
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /note="major polyA site"
     regulatory      3256..3261
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /note="hexamer: AATAAA"
     polyA_site      3278
                     /gene="CYP24A1"
                     /gene_synonym="CP24; CYP24; HCAI; HCINF1; P450-CC24"
                     /note="major polyA site"
ORIGIN      
        1 atggagaggg acaggaggaa acgcagcgcc agcagcatct catctaccct ccttgacacc
       61 tccccgtggc tccagccaga ccctagaggt cagccttgcg gaccaacagg aggactccca
      121 gctttccctt ttcaagaggt ccccagacac cggccaccct cttccagccc ctgcggccag
      181 tgcaaggagg caccaatgct ctgaggctgt cgcgtggtgc agcgtcgagc atcctcgccg
      241 aggtcctttc tgctgcctgt cccgcctcac cccgctccat cacaccagct ggccctcttt
      301 gcttcctttt cccagaatcg ttaagccccg actcccacta gcacctcgta ccaacctcgc
      361 cccaccccat cctcctgcct tcccgcgctc cggtgtcccc cgctgccatg agctccccca
      421 tcagcaagag ccgctcgctt gccgccttcc tgcagcagct gcgcagtccg aggcagcccc
      481 cgagactggt gacatctacg gcgtacacgt cccctcagcc gcgagaggtg ccagtctgcc
      541 cgctgacagc tggtggcgag actcagaacg cggccgccct gccgggcccc accagctggc
      601 cactgctggg cagcctgctg cagattctct ggaaaggggg tctcaagaaa cagcacgaca
      661 ccctggtgga gtaccacaag aagtatggca agattttccg catgaagttg ggttcctttg
      721 agtcggtgca cctgggctcg ccatgcctgc tggaagcgct gtaccgcacc gagagcgcgt
      781 acccgcagcg gctggagatc aaaccgtgga aggcctatcg cgactaccgc aaagaaggct
      841 acgggctgct gatcctggaa ggggaagact ggcagcgggt ccggagtgcc tttcaaaaga
      901 aactaatgaa accaggggaa gtgatgaagc tggacaacaa aatcaatgag gtcttggccg
      961 attttatggg cagaatagat gagctctgtg atgaaagagg ccacgttgaa gacttgtaca
     1021 gcgaactgaa caaatggtcg tttgaaagta tctgcctcgt gttgtatgag aagagatttg
     1081 ggcttctcca gaagaatgca ggggatgaag ctgtgaactt catcatggcc atcaaaacaa
     1141 tgatgagcac gtttgggagg atgatggtca ctccagtcga gctgcacaag agcctcaaca
     1201 ccaaggtctg gcaggaccac actctggcct gggacaccat tttcaaatca gtcaaagctt
     1261 gtatcgacaa ccggttagag aagtattctc agcagcctag tgcagatttc ctttgtgaca
     1321 tttatcacca gaatcggctt tcaaagaaag aattgtatgc tgctgtcaca gagctccagc
     1381 tggctgcggt ggaaacgaca gcaaacagtc taatgtggat tctctacaat ttatcccgta
     1441 atccccaagt gcaacaaaag cttcttaagg aaattcaaag tgtattacct gagaatcagg
     1501 tgccacgggc agaagatttg aggaatatgc cgtatttaaa agcctgtctg aaagaatcta
     1561 tgaggcttac gccgagtgta ccatttacaa ctcggactct tgacaaggca acagttctgg
     1621 gtgaatatgc tttacccaaa ggaacagtgc tcatgctaaa tacccaggtg ttgggatcca
     1681 gtgaagacaa ttttgaagat tcaagtcagt ttagacctga acgttggctt caggagaagg
     1741 aaaaaattaa tccttttgcg catcttccat ttggcgttgg aaaaagaatg tgcattggtc
     1801 gccgattagc agagcttcaa ctgcatttgg ctctttgttg gattgtccgc aaatacgaca
     1861 tccaggccac agacaatgag cctgttgaga tgctacactc aggcaccctg gtgcccagcc
     1921 gggaactccc catcgcgttt tgccagcgat aatacgcctc agatggtggt atttgctaac
     1981 atcatatcca actcagggaa gcggactgag tgctgggatc caaggcattc tacagggttc
     2041 actgctggtt tacacttcac ctgtgtcagc accatcttca ggtgcttaga atggcctggg
     2101 agcctgttct gtcttgcatc ttccatgaca tgaaagggag gctggcactt gtcagtcagg
     2161 tagaggttac aaaccgtttc aggccctgcc taccacattc actgtttgaa tctttaattc
     2221 ccaagaataa gtttacattt cacaatgaat gacctacaac agctaaattt tctggggctg
     2281 ggagtaatac tgacaatcca tttactgtag ctctgcttaa tgtactactt aggaaaatgt
     2341 ccctgcttaa taatgtaagc caagctaaat gatggttaaa gttatcaggc ctcccatgaa
     2401 attgcgttct tcctgcattg aaataaaaac attattggga aactagagaa cacctctatt
     2461 tttaaaagga ctttaacgaa gtcaaacaac ttataagact agtgattcac tggggcatta
     2521 ttttgttaga ggaccttaaa attgtttatt ttttaaatgt gattccttta tggcattagg
     2581 gtaaagatga agcaataatt tttaaattgt gtatgtgcat atgaagcaca gacatgcatg
     2641 tgtgtgtgtg tctgtgtgtg tgtgtccgtg tatgtgtgtg tgggttctaa tggtaatttg
     2701 cctcagtcat ttttttaata tttgcagtac ttgatttagg atctgtggtg cagggcaatg
     2761 tttcaaagtt tagtcacagc ttaaaaacat tcagtgtgac tttaatatta taaaatgatt
     2821 tcccatgcca taatttttct gtctattaaa tgggacaagt gtaaagcatg caaaagttag
     2881 agatctgtta tataacattt gttttgtgat ttgaactcct aggaaaaata tgatttcata
     2941 aatgtaaaat gcacagaaat gcatgcaata cttataagac ttaaaaattg tgtttacaga
     3001 tggtttattt gtgcatattt ttactactgc ttttcctaaa tgcatactgt atataattct
     3061 gtgtatttga taaatatttc ttcctacatt atatttttag aatatttcag aaatatacat
     3121 ttatgtcttt atattgtaat aaatatgtac atatctaggt atatgctttc tctctgctgt
     3181 gaaattattt ttagaattat aaattcacgt cttgtcagat ttcatctgta taccttcaaa
     3241 ttctctgaaa gtaaaaataa aagtttttaa atatttga
//
