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Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), nuclear gene encoding mitochondrial protein, mRNA.


RefSeq Accession Definition Services Price Order
NM_000785 Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), nuclear gene encoding mitochondrial protein, mRNA. ORF Sequence $442.83
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RefSeq Version NM_000785.3, 74099700
Length 2503 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), nuclear gene encoding mitochondrial protein, mRNA.
Product 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
Comment

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].

RefSeq NP_000776.1
CDS 153..1679
Misc Feature(1)105..107
Misc Feature(2)105..107
Misc Feature(3)267..1523
Misc Feature(4)267..1523
Misc Feature(5)273..1667
Misc Feature(6)1515..1517
Exon (1)1..347
Gene:CYP27B1
Gene Synonym:CP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR; VDD1; VDDR; VDDRI; VDR
Exon (2)348..538
Gene:CYP27B1
Gene Synonym:CP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR; VDD1; VDDR; VDDRI; VDR
Exon (3)539..741
Gene:CYP27B1
Gene Synonym:CP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR; VDD1; VDDR; VDDRI; VDR
Exon (4)742..942
Gene:CYP27B1
Gene Synonym:CP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR; VDD1; VDDR; VDDRI; VDR
Exon (5)943..1115
Gene:CYP27B1
Gene Synonym:CP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR; VDD1; VDDR; VDDRI; VDR
Exon (6)1116..1288
Gene:CYP27B1
Gene Synonym:CP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR; VDD1; VDDR; VDDRI; VDR
Exon (7)1289..1367
Gene:CYP27B1
Gene Synonym:CP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR; VDD1; VDDR; VDDRI; VDR
Exon (8)1368..1565
Gene:CYP27B1
Gene Synonym:CP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR; VDD1; VDDR; VDDRI; VDR
Exon (9)1566..2487
Gene:CYP27B1
Gene Synonym:CP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR; VDD1; VDDR; VDDRI; VDR
Translation MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSR LHELQVQGAAHFGPVWLASFGTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCR QRACGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLNNVVCDLVRRLRRQRGRGTGPP ALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDTETFIRAVGSVFVSTLLTMAMPH WLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAAMRNGGQPEKDLESGAHLTHFLFRE ELPAQSILGNVTELLLAGVDTVSNTLSWALYELSRHPEVQTALHSEITAALSPGSSAYPS ATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPDKDIHVGDYIIPKNTLVTLCHYATSRDPA QFPEPNSFRPARWLGEGPTPHPFASLPFGFGKRSCMGRRLAELELQMALAQILTHFEVQP EPGAAPVRPKTRTVLVPERSINLQFLDR
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Position Chain Variation Link
complement(123)-t, gdbSNP:201190359
complement(131)-g, cdbSNP:146281435
complement(192)-g, adbSNP:150648140
complement(195)-t, cdbSNP:202028173
complement(254)-g, cdbSNP:141890302
complement(297)-g, cdbSNP:201343041
complement(302)-g, cdbSNP:139558307
complement(318)-g, cdbSNP:202032208
complement(472)-dbSNP:
complement(472)-g, adbSNP:28934604
complement(526)-g, adbSNP:28934605
complement(537)-t, cdbSNP:58915677
complement(610)-dbSNP:
complement(610)-c, adbSNP:180727885
complement(611)-g, adbSNP:7965963
complement(613)-t, adbSNP:146304554
complement(632)-g, adbSNP:141906701
complement(648)-g, cdbSNP:8176344
complement(683)-c, adbSNP:143165542
complement(692)-g, adbSNP:200761229
complement(718)-g, adbSNP:118204012
complement(778)-dbSNP:
complement(778)-g, cdbSNP:201503366
complement(819)-g, adbSNP:149518825
complement(842)-t, cdbSNP:61734540
complement(916)-t, cdbSNP:190470241
complement(918)-t, cdbSNP:200174985
complement(953)-dbSNP:
complement(953)-g, adbSNP:150334927
complement(959)-g, cdbSNP:141241519
complement(1085)-g, cdbSNP:200567715
complement(1094)-g, adbSNP:8176345
complement(1114)-g, cdbSNP:118204007
complement(1115)-c, adbSNP:201302886
complement(1149)-dbSNP:
complement(1149)-g, adbSNP:145790221
complement(1156)-g, cdbSNP:28934606
complement(1161)-g, adbSNP:201819682
complement(1162)-t, gdbSNP:141927200
complement(1179)-t, cdbSNP:118204011
complement(1209)-g, cdbSNP:151335249
complement(1217)-g, adbSNP:191727255
complement(1219)-t, cdbSNP:13377933
complement(1222)-g, cdbSNP:142446425
complement(1268)-t, cdbSNP:199575147
complement(1271)-t, cdbSNP:148336763
complement(1273)-t, cdbSNP:2229103
complement(1296)-dbSNP:
complement(1296)-t, cdbSNP:28934607
complement(1317)-g, cdbSNP:118204010
complement(1318)-g, adbSNP:118204009
complement(1334)-g, adbSNP:145339059
complement(1378)-dbSNP:
complement(1378)-t, cdbSNP:118204008
complement(1388)-t, gdbSNP:78250220
complement(1462)-c, adbSNP:150025067
complement(1532)-t, cdbSNP:199923824
complement(1575)-dbSNP:
complement(1575)-g, adbSNP:201869290
complement(1604)-g, adbSNP:8176349
complement(1631)-t, adbSNP:191239138
complement(1657)-t, cdbSNP:201629800
complement(1687)-t, cdbSNP:143020052
complement(1711)-c, adbSNP:41325246
complement(1755)-t, cdbSNP:147119803
complement(1756)-g, adbSNP:8176350
complement(2024)-g, adbSNP:141820034
complement(2094)-g, adbSNP:8176351
complement(2281)-t, gdbSNP:180865889
complement(2378)-t, gdbSNP:189295818
complement(2438)-, tdbSNP:34824141
Gene SymbolCYP27B1
Gene SynonymCP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR; VDD1; VDDR; VDDRI; VDR
Chromosome12
Locus Map12q13.1-q13.3
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000785 Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), nuclear gene encoding mitochondrial protein, mRNA. Full Length $725.87
ORF Sequence $442.83
Title Expression of the vitamin D-activating enzyme 1alpha-hydroxylase (CYP27B1) decreases during melanoma progression .
Author Brozyna,A.A., Jozwicki,W., Janjetovic,Z. and Slominski,A.T.
Journal Hum. Pathol. 44 (3), 374-387 (2013)
Title Expression of vitamin D receptor and metabolizing enzymes in multiple sclerosis-affected brain tissue .
Author Smolders,J., Schuurman,K.G., van Strien,M.E., Melief,J., Hendrickx,D., Hol,E.M., van Eden,C., Luchetti,S. and Huitinga,I.
Journal J. Neuropathol. Exp. Neurol. 72 (2), 91-105 (2013)
Title Influence of the vitamin D plasma level and vitamin D-related genetic polymorphisms on the immune status of patients with type 1 diabetes: a pilot study .
Author Rose,K., Penna-Martinez,M., Klahold,E., Karger,D., Shoghi,F., Kahles,H., Bayer,M., Hintermann,E., Pfeilschifter,J.M., Badenhoop,K., Ramos-Lopez,E. and Christen,U.
Journal Clin. Exp. Immunol. 171 (2), 171-185 (2013)
Title Interleukin 13 exposure enhances vitamin D-mediated expression of the human cathelicidin antimicrobial peptide 18/LL-37 in bronchial epithelial cells .
Author Schrumpf,J.A., van Sterkenburg,M.A., Verhoosel,R.M., Zuyderduyn,S. and Hiemstra,P.S.
Journal Infect. Immun. 80 (12), 4485-4494 (2012)
Title Synergism of CYP2R1 and CYP27B1 polymorphisms and susceptibility to type 1 diabetes in Egyptian children .
Author Hussein,A.G., Mohamed,R.H. and Alghobashy,A.A.
Journal Cell. Immunol. 279 (1), 42-45 (2012)
Title 25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis .
Author Takeyama,K., Kitanaka,S., Sato,T., Kobori,M., Yanagisawa,J. and Kato,S.
Journal Science 277 (5333), 1827-1830 (1997)
Title HIV-1 p17 and IFN-gamma both induce fructose 1,6-bisphosphatase .
Author Besancon,F., Just,J., Bourgeade,M.F., Van Weyenbergh,J., Solomon,D., Guillozo,H., Wietzerbin,J. and Cayre,Y.E.
Journal J. Interferon Cytokine Res. 17 (8), 461-467 (1997)
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 .
Author Szpirer,J., Szpirer,C., Riviere,M., Levan,G., Marynen,P., Cassiman,J.J., Wiese,R. and DeLuca,H.F.
Journal Genomics 11 (1), 168-173 (1991)
Title Mapping autosomal recessive vitamin D dependency type I to chromosome 12q14 by linkage analysis .
Author Labuda,M., Morgan,K. and Glorieux,F.H.
Journal Am. J. Hum. Genet. 47 (1), 28-36 (1990)
Title Tumor necrosis factor-alpha induces vitamin D-1-hydroxylase activity in normal human alveolar macrophages .
Author Pryke,A.M., Duggan,C., White,C.P., Posen,S. and Mason,R.S.
Journal J. Cell. Physiol. 142 (3), 652-656 (1990)

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