LOCUS       NM_000785               2372 bp    mRNA    linear   PRI 19-AUG-2024
DEFINITION  Homo sapiens cytochrome P450 family 27 subfamily B member 1
            (CYP27B1), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000785
VERSION     NM_000785.4
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 2372)
  AUTHORS   Murugesan,H., Sampath,P., A,V.K., R,S., Veerasamy,A.,
            Ranganathan,U.D., Paramasivam,S. and Bethunaickan,R.
  TITLE     Association of CYP27B1 gene polymorphisms with pulmonary
            tuberculosis and vitamin D levels
  JOURNAL   Gene 927, 148679 (2024)
   PUBMED   38876405
  REMARK    GeneRIF: Association of CYP27B1 gene polymorphisms with pulmonary
            tuberculosis and vitamin D levels.
REFERENCE   2  (bases 1 to 2372)
  AUTHORS   Dennis,C., Dillon,J., Cohen,D.J., Halquist,M.S., Pearcy,A.C.,
            Schwartz,Z. and Boyan,B.D.
  TITLE     Local production of active vitamin D3 metabolites in breast cancer
            cells by CYP24A1 and CYP27B1
  JOURNAL   J Steroid Biochem Mol Biol 232, 106331 (2023)
   PUBMED   37244301
  REMARK    GeneRIF: Local production of active vitamin D3 metabolites in
            breast cancer cells by CYP24A1 and CYP27B1.
REFERENCE   3  (bases 1 to 2372)
  AUTHORS   Meaux,M.N., Harambat,J., Rothenbuhler,A., Leger,J., Kamenicky,P.,
            Soskin,S., Boyer,O., Boros,E., D'Anella,P., Mignot,B., Gebhart,M.,
            Vic,P., Richard,N., Thivichon-Prince,B., Francou,B., Linglart,A.,
            Bacchetta,J. and Molin,A.
  TITLE     Genotype-phenotype Description of Vitamin D-dependent Rickets 1A:
            CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease
  JOURNAL   J Clin Endocrinol Metab 108 (4), 812-826 (2023)
   PUBMED   36321535
  REMARK    GeneRIF: Genotype-phenotype Description of Vitamin D-dependent
            Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.
REFERENCE   4  (bases 1 to 2372)
  AUTHORS   Aftab,S., Khan,S.A., Malik,M.I., Imran,A., Anjum,M.N., Saeed,A.,
            Qureshi,A.A. and Cheema,H.A.
  TITLE     Clinical spectrum and diagnostic challenges of vitamin D dependent
            rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource
            limited countries
  JOURNAL   J Pediatr Endocrinol Metab 36 (2), 152-157 (2022)
   PUBMED   36524979
  REMARK    GeneRIF: Clinical spectrum and diagnostic challenges of vitamin D
            dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in
            resource limited countries.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2372)
  AUTHORS   Luo,M., Liu,J., Yuan,Y., Chen,Y. and Yuan,G.
  TITLE     The role of vitamin D-synthesizing enzyme CYP27B1 in systemic lupus
            erythematosus
  JOURNAL   Turk J Med Sci 52 (4), 984-989 (2022)
   PUBMED   36326421
  REMARK    GeneRIF: The role of vitamin D-synthesizing enzyme CYP27B1 in
            systemic lupus erythematosus.
REFERENCE   6  (bases 1 to 2372)
  AUTHORS   Takeyama,K., Kitanaka,S., Sato,T., Kobori,M., Yanagisawa,J. and
            Kato,S.
  TITLE     25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis
  JOURNAL   Science 277 (5333), 1827-1830 (1997)
   PUBMED   9295274
REFERENCE   7  (bases 1 to 2372)
  AUTHORS   Besancon,F., Just,J., Bourgeade,M.F., Van Weyenbergh,J.,
            Solomon,D., Guillozo,H., Wietzerbin,J. and Cayre,Y.E.
  TITLE     HIV-1 p17 and IFN-gamma both induce fructose 1,6-bisphosphatase
  JOURNAL   J Interferon Cytokine Res 17 (8), 461-467 (1997)
   PUBMED   9282826
REFERENCE   8  (bases 1 to 2372)
  AUTHORS   Szpirer,J., Szpirer,C., Riviere,M., Levan,G., Marynen,P.,
            Cassiman,J.J., Wiese,R. and DeLuca,H.F.
  TITLE     The Sp1 transcription factor gene (SP1) and the
            1,25-dihydroxyvitamin D3 receptor gene (VDR) are colocalized on
            human chromosome arm 12q and rat chromosome 7
  JOURNAL   Genomics 11 (1), 168-173 (1991)
   PUBMED   1662663
REFERENCE   9  (bases 1 to 2372)
  AUTHORS   Labuda,M., Morgan,K. and Glorieux,F.H.
  TITLE     Mapping autosomal recessive vitamin D dependency type I to
            chromosome 12q14 by linkage analysis
  JOURNAL   Am J Hum Genet 47 (1), 28-36 (1990)
   PUBMED   1971995
REFERENCE   10 (bases 1 to 2372)
  AUTHORS   Pryke,A.M., Duggan,C., White,C.P., Posen,S. and Mason,R.S.
  TITLE     Tumor necrosis factor-alpha induces vitamin D-1-hydroxylase
            activity in normal human alveolar macrophages
  JOURNAL   J Cell Physiol 142 (3), 652-656 (1990)
   PUBMED   1690216
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB005038.1 and AW449645.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000785.3.
            
            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.
            The protein encoded by this gene localizes to the inner
            mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3
            at the 1alpha position. This reaction synthesizes
            1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which
            binds to the vitamin D receptor and regulates calcium metabolism.
            Thus this enzyme regulates the level of biologically active vitamin
            D and plays an important role in calcium homeostasis. Mutations in
            this gene can result in vitamin D-dependent rickets type I.
            [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 :: AB005038.1, AF020192.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145774
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000228606.9/
                                                  ENSP00000228606.4
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2367              AB005038.1         85-2451
            2368-2372           AW449645.1         17-21               c
FEATURES             Location/Qualifiers
     source          1..2372
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q14.1"
     gene            1..2372
                     /gene="CYP27B1"
                     /gene_synonym="CP2B; CYP1; CYP1alpha; CYP27B; P450c1;
                     PDDR; VDD1; VDDR; VDDRI; VDR"
                     /note="cytochrome P450 family 27 subfamily B member 1"
                     /db_xref="GeneID:1594"
                     /db_xref="HGNC:HGNC:2606"
                     /db_xref="MIM:609506"
     exon            1..232
                     /gene="CYP27B1"
                     /gene_synonym="CP2B; CYP1; CYP1alpha; CYP27B; P450c1;
                     PDDR; VDD1; VDDR; VDDRI; VDR"
                     /inference="alignment:Splign:2.1.0"
     CDS             38..1564
                     /gene="CYP27B1"
                     /gene_synonym="CP2B; CYP1; CYP1alpha; CYP27B; P450c1;
                     PDDR; VDD1; VDDR; VDDRI; VDR"
                     /EC_number="1.14.15.18"
                     /note="25-OHD-1 alpha-hydroxylase; VD3 1A hydroxylase;
                     1alpha(OH)ase; 25 hydroxyvitamin D3-1-alpha hydroxylase;
                     calcidiol 1-monooxygenase; cytochrome p450 27B1;
                     cytochrome P450C1 alpha; cytochrome P450VD1-alpha;
                     cytochrome P450 subfamily XXVIIB polypeptide 1; cytochrome
                     P450, family 27, subfamily B, polypeptide 1"
                     /codon_start=1
                     /product="25-hydroxyvitamin D-1 alpha hydroxylase,
                     mitochondrial"
                     /protein_id="NP_000776.1"
                     /db_xref="CCDS:CCDS8954.1"
                     /db_xref="GeneID:1594"
                     /db_xref="HGNC:HGNC:2606"
                     /db_xref="MIM:609506"
                     /translation="MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPS
                     TPSFLAELFCKGGLSRLHELQVQGAAHFGPVWLASFGTVRTVYVAAPALVEELLRQEG
                     PRPERCSFSPWTEHRRCRQRACGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLNN
                     VVCDLVRRLRRQRGRGTGPPALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDT
                     ETFIRAVGSVFVSTLLTMAMPHWLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAA
                     MRNGGQPEKDLESGAHLTHFLFREELPAQSILGNVTELLLAGVDTVSNTLSWALYELS
                     RHPEVQTALHSEITAALSPGSSAYPSATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPD
                     KDIHVGDYIIPKNTLVTLCHYATSRDPAQFPEPNSFRPARWLGEGPTPHPFASLPFGF
                     GKRSCMGRRLAELELQMALAQILTHFEVQPEPGAAPVRPKTRTVLVPERSINLQFLDR
                     "
     exon            233..423
                     /gene="CYP27B1"
                     /gene_synonym="CP2B; CYP1; CYP1alpha; CYP27B; P450c1;
                     PDDR; VDD1; VDDR; VDDRI; VDR"
                     /inference="alignment:Splign:2.1.0"
     exon            424..626
                     /gene="CYP27B1"
                     /gene_synonym="CP2B; CYP1; CYP1alpha; CYP27B; P450c1;
                     PDDR; VDD1; VDDR; VDDRI; VDR"
                     /inference="alignment:Splign:2.1.0"
     exon            627..827
                     /gene="CYP27B1"
                     /gene_synonym="CP2B; CYP1; CYP1alpha; CYP27B; P450c1;
                     PDDR; VDD1; VDDR; VDDRI; VDR"
                     /inference="alignment:Splign:2.1.0"
     exon            828..1000
                     /gene="CYP27B1"
                     /gene_synonym="CP2B; CYP1; CYP1alpha; CYP27B; P450c1;
                     PDDR; VDD1; VDDR; VDDRI; VDR"
                     /inference="alignment:Splign:2.1.0"
     exon            1001..1173
                     /gene="CYP27B1"
                     /gene_synonym="CP2B; CYP1; CYP1alpha; CYP27B; P450c1;
                     PDDR; VDD1; VDDR; VDDRI; VDR"
                     /inference="alignment:Splign:2.1.0"
     exon            1174..1252
                     /gene="CYP27B1"
                     /gene_synonym="CP2B; CYP1; CYP1alpha; CYP27B; P450c1;
                     PDDR; VDD1; VDDR; VDDRI; VDR"
                     /inference="alignment:Splign:2.1.0"
     exon            1253..1450
                     /gene="CYP27B1"
                     /gene_synonym="CP2B; CYP1; CYP1alpha; CYP27B; P450c1;
                     PDDR; VDD1; VDDR; VDDRI; VDR"
                     /inference="alignment:Splign:2.1.0"
     exon            1451..2372
                     /gene="CYP27B1"
                     /gene_synonym="CP2B; CYP1; CYP1alpha; CYP27B; P450c1;
                     PDDR; VDD1; VDDR; VDDRI; VDR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2348..2353
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP27B1"
                     /gene_synonym="CP2B; CYP1; CYP1alpha; CYP27B; P450c1;
                     PDDR; VDD1; VDDR; VDDRI; VDR"
                     /note="hexamer: AATAAA"
     polyA_site      2372
                     /gene="CYP27B1"
                     /gene_synonym="CP2B; CYP1; CYP1alpha; CYP27B; P450c1;
                     PDDR; VDD1; VDDR; VDDRI; VDR"
                     /note="major polyA site"
ORIGIN      
        1 agaagcgctt tctttcgcga gcaccctgaa ccagaccatg acccagaccc tcaagtacgc
       61 ctccagagtg ttccatcgcg tccgctgggc gcccgagttg ggcgcctccc taggctaccg
      121 agagtaccac tcagcacgcc ggagcttggc agacatccca ggcccctcta cgcccagctt
      181 tctggccgaa cttttctgca agggggggct gtcgaggcta cacgagctgc aggtgcaggg
      241 cgccgcgcac ttcgggccgg tgtggctagc cagctttggg acagtgcgca ccgtgtacgt
      301 ggctgcccct gcactcgtcg aggagctgct gcgacaggag ggaccccggc ccgagcgctg
      361 cagcttctcg ccctggacgg agcaccgccg ctgccgccag cgggcttgcg gactgctcac
      421 tgcggaaggc gaagaatggc aaaggctccg cagtctcctg gccccgctcc tcctccggcc
      481 tcaagcggcc gcccgctacg ccggaaccct gaacaacgta gtctgcgacc ttgtgcggcg
      541 tctgaggcgc cagcggggac gtggcacggg gccgcccgcc ctggttcggg acgtggcggg
      601 ggaattttac aagttcggac tggaaggcat cgccgcggtt ctgctcggct cgcgcttggg
      661 ctgcctggag gctcaagtgc cacccgacac ggagaccttc atccgcgctg tgggctcggt
      721 gtttgtgtcc acgctgttga ccatggcgat gccccactgg ctgcgccacc ttgtgcctgg
      781 gccctggggc cgcctctgcc gagactggga ccagatgttt gcatttgctc agaggcacgt
      841 ggagcggcga gaggcagagg cagccatgag gaacggagga cagcccgaga aggacctgga
      901 gtctggggcg cacctgaccc acttcctgtt ccgggaagag ttgcctgccc agtccatcct
      961 gggaaatgtg acagagttgc tattggcggg agtggacacg gtgtccaaca cgctctcttg
     1021 ggctctgtat gagctctccc ggcaccccga agtccagaca gcactccact cagagatcac
     1081 agctgccctg agccctggct ccagtgccta cccctcagcc actgttctgt cccagctgcc
     1141 cctgctgaag gcggtggtca aggaagtgct aagactgtac cctgtggtac ctggaaattc
     1201 tcgtgtccca gacaaagaca ttcatgtggg tgactatatt atccccaaaa atacgctggt
     1261 cactctgtgt cactatgcca cttcaaggga ccctgcccag ttcccagagc caaattcttt
     1321 tcgtccagct cgctggctgg gggagggtcc caccccccac ccatttgcat ctcttccctt
     1381 tggctttggc aagcgcagct gtatggggag acgcctggca gagcttgaat tgcaaatggc
     1441 tttggcccag atcctaacac attttgaggt gcagcctgag ccaggtgcgg ccccagttag
     1501 acccaagacc cggactgtcc tggtacctga aaggagcatc aacctacagt ttttggacag
     1561 atagtcccat ggaaagagac tgtcatcatc accctttcat tcatcatagg gataagattt
     1621 tttgtaggca caagaccaag gtatacatct tcccctaatg cctatctgac caaactggat
     1681 agaaccacca tagtgaagtg tgaggcggcc ctgaccaatg tgtgaagtat gcacttggcc
     1741 tgactcagga agccaggtga gaaaaccatg gtctctctgc ttgcttggcc cttctgatca
     1801 tgtatgcatc ccccaaggat gaaatcagat tttaactaat aatgctggat ggcctgagga
     1861 aagattcaac tgcctctctt tttgggcttt catagtgttc attgatgctg ctggctaagc
     1921 atttatcaaa gcataagctc agtaactgtg catctggtct gtacctggtt ggtccttcgt
     1981 ctttgcatgt aagctctttg agaggaaggg tgaagcctta tttgtttttt atgtcccctg
     2041 ccagggcctg tctctgacta ggtgtcacca tacacattct tagattgaat ctgaaccatg
     2101 tggcagaagg gataagcagc ttacttagta ggctctgtct acccccttcc ttctttgtct
     2161 tgcccctagg aaggtgaatc tgccctagcc tggtttacgg tttcttataa ctctcctttg
     2221 ctctctggcc actattaagt gggtttgccc catcacttag ttctcaggca gagacatctt
     2281 tgggcctgtc cctgcccagg cctctggctt tttatattga aaatttttaa atattcacaa
     2341 attttagaat aaatcaaata ttccattctt ga
//
