LOCUS NP_000776 508 aa linear PRI 16-NOV-2008
DEFINITION cytochrome P450, family 27, subfamily B, polypeptide 1 [Homo
sapiens].
ACCESSION NP_000776
VERSION NP_000776.1 GI:4503213
DBSOURCE REFSEQ: accession NM_000785.3
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 508)
AUTHORS Dong,L.M., Ulrich,C.M., Hsu,L., Duggan,D.J., Benitez,D.S.,
White,E., Slattery,M.L., Caan,B.J., Potter,J.D. and Peters,U.
TITLE Genetic variation in calcium-sensing receptor and risk for colon
cancer
JOURNAL Cancer Epidemiol. Biomarkers Prev. 17 (10), 2755-2765 (2008)
PUBMED 18843020
REMARK GeneRIF: Observational study of gene-disease association, gene-gene
interaction, and gene-environment interaction. (HuGE Navigator)
REFERENCE 2 (residues 1 to 508)
AUTHORS Hosgood,H.D. III, Menashe,I., Shen,M., Yeager,M., Yuenger,J.,
Rajaraman,P., He,X., Chatterjee,N., Caporaso,N.E., Zhu,Y.,
Chanock,S.J., Zheng,T. and Lan,Q.
TITLE Pathway-based evaluation of 380 candidate genes and lung cancer
susceptibility suggests the importance of the cell cycle pathway
JOURNAL Carcinogenesis 29 (10), 1938-1943 (2008)
PUBMED 18676680
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 3 (residues 1 to 508)
AUTHORS Orton,S.M., Morris,A.P., Herrera,B.M., Ramagopalan,S.V.,
Lincoln,M.R., Chao,M.J., Vieth,R., Sadovnick,A.D. and Ebers,G.C.
TITLE Evidence for genetic regulation of vitamin D status in twins with
multiple sclerosis
JOURNAL Am. J. Clin. Nutr. 88 (2), 441-447 (2008)
PUBMED 18689381
REMARK GeneRIF: Significant associations of 2 CYP27B1 SNP variants and
25(OH)D concentrations were observed. The findings indicate
important genetic influences on regulation of seasonal circulating
25(OH)D concentrations in MS twins.
REFERENCE 4 (residues 1 to 508)
AUTHORS Ramos-Lopez,E., Kahles,H., Weber,S., Kukic,A., Penna-Martinez,M.,
Badenhoop,K. and Louwen,F.
TITLE Gestational diabetes mellitus and vitamin D deficiency: genetic
contribution of CYP27B1 and CYP2R1 polymorphisms
JOURNAL Diabetes Obes Metab 10 (8), 683-685 (2008)
PUBMED 18476984
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 5 (residues 1 to 508)
AUTHORS Yang,J. and Xiong,F.
TITLE [Relevance of CYP27B1 gene promoter polymorphism to autoimmune
thyroid diseases]
JOURNAL Nan Fang Yi Ke Da Xue Xue Bao 28 (4), 606-608 (2008)
PUBMED 18495603
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (residues 1 to 508)
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 (residues 1 to 508)
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 (residues 1 to 508)
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 (residues 1 to 508)
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 (residues 1 to 508)
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 BP296031.1, AB005038.1 and
AW449645.1.
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.
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].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the
Entrez Gene record to access additional publications.
FEATURES Location/Qualifiers
source 1..508
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="12"
/map="12q13.1-q13.3"
Protein 1..508
/product="cytochrome P450, family 27, subfamily B,
polypeptide 1"
/EC_number="1.14.13.13"
/note="25-OHD-1 alpha-hydroxylase; VD3 1A hydroxylase;
25-hydroxyvitamin D-1-alpha-hydroxylase; cytochrome P450,
subfamily XXVIIB (25-hydroxyvitamin
D-1-alpha-hydroxylase), polypeptide 1; cytochrome P450,
subfamily XXVIIB, polypeptide 1; P450C1-alpha;
P450VD1-alpha; 25 hydroxyvitamin D3-1-alpha hydroxylase;
calcidiol 1-monooxygenase; VDDR I; 1alpha(OH)ase;
25-Hydroxyvitamin D3 1alpha-hydroxylase"
/calculated_mol_wt=56373
Site 455
/site_type="binding"
/note="heme binding site"
CDS 1..508
/gene="CYP27B1"
/gene_synonym="VDR"
/gene_synonym="CP2B"
/gene_synonym="CYP1"
/gene_synonym="PDDR"
/gene_synonym="VDD1"
/gene_synonym="VDDR"
/gene_synonym="VDDRI"
/gene_synonym="CYP27B"
/gene_synonym="P450c1"
/gene_synonym="CYP1alpha"
/coded_by="NM_000785.3:153..1679"
/db_xref="CCDS:CCDS8954.1"
/db_xref="GeneID:1594"
/db_xref="HGNC:2606"
/db_xref="HPRD:02031"
/db_xref="MIM:609506"
ORIGIN
1 mtqtlkyasr vfhrvrwape lgaslgyrey hsarrsladi pgpstpsfla elfckgglsr
61 lhelqvqgaa hfgpvwlasf gtvrtvyvaa palveellrq egprpercsf spwtehrrcr
121 qracglltae geewqrlrsl laplllrpqa aaryagtlnn vvcdlvrrlr rqrgrgtgpp
181 alvrdvagef ykfglegiaa vllgsrlgcl eaqvppdtet firavgsvfv stlltmamph
241 wlrhlvpgpw grlcrdwdqm fafaqrhver reaeaamrng gqpekdlesg ahlthflfre
301 elpaqsilgn vtelllagvd tvsntlswal yelsrhpevq talhseitaa lspgssayps
361 atvlsqlpll kavvkevlrl ypvvpgnsrv pdkdihvgdy iipkntlvtl chyatsrdpa
421 qfpepnsfrp arwlgegptp hpfaslpfgf gkrscmgrrl aelelqmala qilthfevqp
481 epgaapvrpk trtvlvpers inlqfldr
//