LOCUS       NM_024514               2214 bp    mRNA    linear   PRI 17-JUN-2024
DEFINITION  Homo sapiens cytochrome P450 family 2 subfamily R member 1
            (CYP2R1), transcript variant 1, mRNA.
ACCESSION   NM_024514 XM_058459
VERSION     NM_024514.5
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 2214)
  AUTHORS   Stroia,C.M., Ghitea,T.C., Vranceanu,M., Muresan,M.,
            Bimbo-Szuhai,E., Pallag,C.R. and Pallag,A.
  TITLE     Relationship between Vitamin D3 Deficiency, Metabolic Syndrome and
            VDR, GC, and CYP2R1 Gene Polymorphisms
  JOURNAL   Nutrients 16 (9), 1272 (2024)
   PUBMED   38732523
  REMARK    GeneRIF: Relationship between Vitamin D3 Deficiency, Metabolic
            Syndrome and VDR, GC, and CYP2R1 Gene Polymorphisms.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2214)
  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   3  (bases 1 to 2214)
  AUTHORS   Rahman,A., Abu-Farha,M., Channanath,A., Hammad,M.M., Anoop,E.,
            Chandy,B., Melhem,M., Al-Mulla,F., Thanaraj,T.A. and Abubaker,J.
  TITLE     Single nucleotide polymorphisms in vitamin D binding protein and
            25-hydroxylase genes affect vitamin D levels in adolescents of Arab
            ethnicity in Kuwait
  JOURNAL   Front Endocrinol (Lausanne) 14, 1257051 (2023)
   PUBMED   37929021
  REMARK    GeneRIF: Single nucleotide polymorphisms in vitamin D binding
            protein and 25-hydroxylase genes affect vitamin D levels in
            adolescents of Arab ethnicity in Kuwait.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2214)
  AUTHORS   Ali,E., Das,E., Das,P.P., Kalita,M.J., Dutta,K., Kalita,S.,
            Adhyapak,S., Hazarika,G., Talukdar,J., Malik,A., Akhtar,S.,
            Bhattachrya,M., Choudhury,B.N., Idris,M.G., Baruah,M.N. and
            Medhi,S.
  TITLE     Association of Single Nucleotide Polymorphism in VDR, GC Globulin
            and CYP2R1 with the Risk of Esophageal Cancer
  JOURNAL   Asian Pac J Cancer Prev 24 (10), 3353-3360 (2023)
   PUBMED   37898838
  REMARK    GeneRIF: Association of Single Nucleotide Polymorphism in VDR, GC
            Globulin and CYP2R1 with the Risk of Esophageal Cancer.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2214)
  AUTHORS   Varadharajan,A., Sibin,M.K., Athira,S.V., Ghosh,A.K. and Misra,P.
  TITLE     Correlation of CYP2R1 gene promoter methylation with circulating
            vitamin D levels among healthy adults
  JOURNAL   Indian J Med Res 158 (2), 197-200 (2023)
   PUBMED   37675692
  REMARK    GeneRIF: Correlation of CYP2R1 gene promoter methylation with
            circulating vitamin D levels among healthy adults.
REFERENCE   6  (bases 1 to 2214)
  AUTHORS   Shinkyo,R., Sakaki,T., Kamakura,M., Ohta,M. and Inouye,K.
  TITLE     Metabolism of vitamin D by human microsomal CYP2R1
  JOURNAL   Biochem Biophys Res Commun 324 (1), 451-457 (2004)
   PUBMED   15465040
  REMARK    GeneRIF: Results suggest that CYP2R1 plays a physiologically
            important role in the vitamin D 25-hydroxylation in humans.
REFERENCE   7  (bases 1 to 2214)
  AUTHORS   Cheng,J.B., Levine,M.A., Bell,N.H., Mangelsdorf,D.J. and
            Russell,D.W.
  TITLE     Genetic evidence that the human CYP2R1 enzyme is a key vitamin D
            25-hydroxylase
  JOURNAL   Proc Natl Acad Sci U S A 101 (20), 7711-7715 (2004)
   PUBMED   15128933
REFERENCE   8  (bases 1 to 2214)
  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   9  (bases 1 to 2214)
  AUTHORS   Cheng,J.B., Motola,D.L., Mangelsdorf,D.J. and Russell,D.W.
  TITLE     De-orphanization of cytochrome P450 2R1: a microsomal vitamin D
            25-hydroxilase
  JOURNAL   J Biol Chem 278 (39), 38084-38093 (2003)
   PUBMED   12867411
  REMARK    GeneRIF: CYP2R1 is a strong candidate for the microsomal vitamin D
            25-hydroxylase.
REFERENCE   10 (bases 1 to 2214)
  AUTHORS   Nelson,D.R.
  TITLE     Comparison of P450s from human and fugu: 420 million years of
            vertebrate P450 evolution
  JOURNAL   Arch Biochem Biophys 409 (1), 18-24 (2003)
   PUBMED   12464240
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090835.7 and AY323817.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 18, 2019 this sequence version replaced NM_024514.4.
            
            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 enzyme is a microsomal vitamin D hydroxylase that converts
            vitamin D into the active ligand for the vitamin D receptor. A
            mutation in this gene has been associated with selective
            25-hydroxyvitamin D deficiency. [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 :: AY323817.1, BC104909.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467146 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000334636.10/ ENSP00000334592.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                AC090835.7         127631-127656
            27-1592             AY323817.1         1-1566
            1593-2214           AC090835.7         141801-142422
FEATURES             Location/Qualifiers
     source          1..2214
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.2"
     gene            1..2214
                     /gene="CYP2R1"
                     /note="cytochrome P450 family 2 subfamily R member 1"
                     /db_xref="GeneID:120227"
                     /db_xref="HGNC:HGNC:20580"
                     /db_xref="MIM:608713"
     exon            1..251
                     /gene="CYP2R1"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..1532
                     /gene="CYP2R1"
                     /EC_number="1.14.14.24"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cytochrome P450, family 2, R1; vitamin D 25-hydroxylase;
                     cytochrome P450 2R1; cytochrome P450, family 2, subfamily
                     R, polypeptide 1"
                     /codon_start=1
                     /product="vitamin D 25-hydroxylase isoform 1"
                     /protein_id="NP_078790.2"
                     /db_xref="CCDS:CCDS7818.1"
                     /db_xref="GeneID:120227"
                     /db_xref="HGNC:HGNC:20580"
                     /db_xref="MIM:608713"
                     /translation="MWKLWRAEEGAAALGGALFLLLFALGVRQLLKQRRPMGFPPGPP
                     GLPFIGNIYSLAASSELPHVYMRKQSQVYGEIFSLDLGGISTVVLNGYDVVKECLVHQ
                     SEIFADRPCLPLFMKMTKMGGLLNSRYGRGWVDHRRLAVNSFRYFGYGQKSFESKILE
                     ETKFFNDAIETYKGRPFDFKQLITNAVSNITNLIIFGERFTYEDTDFQHMIELFSENV
                     ELAASASVFLYNAFPWIGILPFGKHQQLFRNAAVVYDFLSRLIEKASVNRKPQLPQHF
                     VDAYLDEMDQGKNDPSSTFSKENLIFSVGELIIAGTETTTNVLRWAILFMALYPNIQG
                     QVQKEIDLIMGPNGKPSWDDKCKMPYTEAVLHEVLRFCNIVPLGIFHATSEDAVVRGY
                     SIPKGTTVITNLYSVHFDEKYWRDPEVFHPERFLDSSGYFAKKEALVPFSLGRRHCLG
                     EHLARMEMFLFFTALLQRFHLHFPHELVPDLKPRLGMTLQPQPYLICAERR"
     exon            252..393
                     /gene="CYP2R1"
                     /inference="alignment:Splign:2.1.0"
     exon            394..1026
                     /gene="CYP2R1"
                     /inference="alignment:Splign:2.1.0"
     exon            1027..1356
                     /gene="CYP2R1"
                     /inference="alignment:Splign:2.1.0"
     exon            1357..2214
                     /gene="CYP2R1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1617..1622
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2R1"
                     /note="hexamer: AATAAA"
     polyA_site      1645
                     /gene="CYP2R1"
                     /note="major polyA site"
     regulatory      2192..2197
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2R1"
                     /note="hexamer: AATATA"
     polyA_site      2214
                     /gene="CYP2R1"
ORIGIN      
        1 ggagttcgca cctccagctc gggccgatgt ggaagctttg gagagctgaa gagggcgcgg
       61 cggcgctcgg cggcgcgctc ttcctgctgc tcttcgcgct aggggtccgc cagctgctga
      121 agcagaggcg gccgatgggc ttccccccgg ggccgccggg gctgccattt atcggcaaca
      181 tctattccct ggcagcctca tccgagcttc cccatgtcta catgagaaag cagagccagg
      241 tgtacggaga gatcttcagt ttagatcttg gaggcatatc aactgtggtt ctaaatggct
      301 atgatgtagt aaaggaatgc cttgttcatc aaagcgaaat ttttgcagac agaccatgcc
      361 ttcctttatt catgaagatg acaaaaatgg gaggcttact caattccaga tatggccgag
      421 gatgggttga tcacagacga ttagctgtaa acagttttcg atattttgga tatggccaaa
      481 agtcttttga atctaaaatc ttggaagaaa ccaaattttt caatgatgct attgaaacat
      541 acaaaggtag accttttgac tttaaacagt taataacgaa tgctgtttca aacataacca
      601 atctgatcat ttttggagaa cgattcactt atgaagacac cgattttcag cacatgattg
      661 agttatttag tgaaaatgtg gaactagctg ccagtgcctc agtcttcttg tataatgcct
      721 ttccatggat tggcatcctg ccttttggaa aacatcaaca gctgtttaga aatgcagctg
      781 tagtctatga ttttctctcc agactcattg aaaaagcttc agtcaacaga aagcctcagc
      841 tacctcagca ttttgttgat gcttatttag atgagatgga tcaaggtaaa aatgacccat
      901 catctacttt ctccaaagaa aacctaattt tctcagtggg tgaactcatc attgctggaa
      961 ctgaaactac aaccaatgtg ctacggtggg cgattctttt catggccctt tatcctaata
     1021 ttcaaggaca agttcagaaa gagattgatt taattatggg ccctaatggg aagccttctt
     1081 gggacgacaa atgcaaaatg ccttatactg aggcagtttt gcatgaagtt ttaagattct
     1141 gtaatatagt tccattaggg attttccatg caacctctga agatgcagtt gtacgtggtt
     1201 attccattcc taaaggcaca acagtaatta caaatcttta ttctgtacac tttgatgaaa
     1261 agtactggag agacccagaa gtgttccatc ctgagcgatt tctggacagc agtggatatt
     1321 ttgccaagaa ggaagctttg gttccttttt ccctaggaag aagacattgt cttggagaac
     1381 acttggctcg gatggaaatg ttcttgtttt ttacagcatt gcttcagagg tttcatttgc
     1441 attttccaca tgaactagtt ccagatctga agcccaggtt aggcatgaca ttgcagcccc
     1501 aaccctacct catctgtgct gaaagacgct gaaactgcct gggatgtttt cgggaacaag
     1561 aatgtatatt tgccttatcc ctgaacttgg tttaatcaaa tcaatgtgtg tattagaata
     1621 aaagtcacag catcaaaaag ccaaatgaac acagatgtgt cttaaaatag tactagagca
     1681 gaaacaagca ctagtcgtga ttgtttttca agattttatg acttctgggg taaaattctc
     1741 tgttgagaga cacaaaggtg caaatgatgg gtgttgctta aaatgctaag aagggtcatg
     1801 gacgccctaa gctgagcatc ttgtttagta ccaggtactt tcatcccttc ttgactccat
     1861 ctgccttctg tcctgggggg ccttggttcc agaaaccagc tcccttctga tcaggtattg
     1921 tcattaataa actgtgtggt accagtccag tttaatagag gactacagaa gaaattaaaa
     1981 cacaaataaa tgagttagga ctatagaggt attttagata tggtgggaga tggtagaaga
     2041 aatatgtatt taatgtagag cctgccagtg ctttcatatc ttgcttcctg ctctgtcttc
     2101 ataagaactg tgtcattctt cttataaatg agggtctgtg tgaccctgag tgtccatctt
     2161 catagcagtt aagtagatag gacattacaa taatatattt aaaatttaaa atga
//
