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Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu27370 Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu27370C Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), mRNA. Customized vector On-demand $269.00 7-9

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000785.3, 74099700
Length 1527 bp
Structure linear
Update Date 25-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), 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)273..1667
Misc Feature(4)273..1667
Misc Feature(5)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(107..109)-, catdbSNP:371880778
complement(122)-c, adbSNP:372422608
complement(123)-t, gdbSNP:201190359
complement(131)-g, cdbSNP:146281435
complement(169)-t, cdbSNP:374801900
complement(192)-g, adbSNP:150648140
complement(193)-t, cdbSNP:372223837
complement(195)-t, cdbSNP:202028173
complement(234)-t, gdbSNP:368820787
complement(254)-g, cdbSNP:141890302
complement(297)-g, cdbSNP:201343041
complement(302)-g, cdbSNP:139558307
complement(318)-g, cdbSNP:202032208
complement(322)-g, cdbSNP:376304260
414+dbSNP:
414+, gdbSNP:387906260
complement(463)-t, cdbSNP:370689065
472+a, gdbSNP:28934604
complement(500)-g, adbSNP:372771210
526+a, gdbSNP:28934605
complement(537)-t, cdbSNP:58915677
complement(610)-dbSNP:
complement(610)-c, adbSNP:180727885
complement(611)-g, adbSNP:7965963
complement(632)-g, adbSNP:141906701
648+c, gdbSNP:8176344
complement(652)-g, cdbSNP:372846214
complement(654)-g, adbSNP:369510241
complement(683)-c, adbSNP:143165542
complement(692)-g, adbSNP:200761229
complement(693)-c, adbSNP:368126466
718+a, gdbSNP:118204012
complement(720)-g, adbSNP:375234468
complement(770)-dbSNP:
complement(770)-t, gdbSNP:370743468
complement(778)-g, cdbSNP:201503366
782+, gdbSNP:387906258
complement(819)-g, adbSNP:149518825
complement(822)-c, adbSNP:367743385
complement(842)-t, cdbSNP:61734540
844+, cdbSNP:387906259
complement(858)-t, gdbSNP:373542360
complement(915)-g, cdbSNP:374481894
complement(916)-t, cdbSNP:190470241
complement(918)-t, cdbSNP:200174985
complement(953)-dbSNP:
complement(953)-g, adbSNP:150334927
complement(959)-g, cdbSNP:141241519
complement(999)-g, adbSNP:370850634
complement(1055)-g, cdbSNP:377397604
complement(1085)-g, cdbSNP:200567715
1094+a, gdbSNP:8176345
complement(1094)-g, adbSNP:386615791
1114+c, gdbSNP:118204007
complement(1115)-c, adbSNP:201302886
complement(1149)-dbSNP:
complement(1149)-g, adbSNP:145790221
1156+c, gdbSNP:28934606
complement(1161)-g, adbSNP:201819682
complement(1162)-t, gdbSNP:141927200
1179+c, tdbSNP:118204011
complement(1187)-t, cdbSNP:372527928
complement(1209)-g, cdbSNP:151335249
complement(1217)-g, adbSNP:191727255
complement(1219)-t, cdbSNP:13377933
complement(1222)-g, cdbSNP:142446425
complement(1238)-t, adbSNP:373672754
complement(1268)-t, cdbSNP:199575147
complement(1271)-t, cdbSNP:148336763
1273+c, tdbSNP:2229103
1296+dbSNP:
1296+c, tdbSNP:28934607
1317+c, gdbSNP:118204010
1318+a, gdbSNP:118204009
complement(1334)-g, adbSNP:145339059
complement(1374)-dbSNP:
complement(1374)-c, adbSNP:377154743
1378+c, tdbSNP:118204008
complement(1388)-t, gdbSNP:78250220
complement(1400)-t, cdbSNP:374454037
complement(1462)-c, adbSNP:150025067
complement(1532)-t, cdbSNP:199923824
complement(1575)-dbSNP:
complement(1575)-g, adbSNP:201869290
complement(1583)-t, cdbSNP:374681375
complement(1604)-g, adbSNP:8176349
complement(1604)-g, adbSNP:386615793
complement(1631)-t, adbSNP:191239138
complement(1651)-t, cdbSNP:371735439
complement(1657)-t, cdbSNP:201629800
complement(1664)-t, cdbSNP:374536920
complement(1687)-t, cdbSNP:143020052
complement(1697)-t, cdbSNP:372269276
complement(1711)-c, adbSNP:41325246
complement(1716)-g, adbSNP:371594650
complement(1755)-t, cdbSNP:147119803
1756+a, gdbSNP:8176350
complement(1756)-t, cdbSNP:386615794
complement(2024)-g, adbSNP:141820034
complement(2094)-g, adbSNP:8176351
complement(2281)-t, gdbSNP:180865889
complement(2378)-t, gdbSNP:189295818
complement(2435)-, tdbSNP:34824141
Gene SymbolCYP27B1
Gene SynonymCP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR; VDD1; VDDR; VDDRI; VDR
Chromosome12
Locus Map12q14.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000785 Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), mRNA. On-demand $219.00 7-9
Title Characterization of vitamin D production by human ocular barrier cells .
Author Alsalem JA, Patel D, Susarla R, Coca-Prados M, Bland R, Walker EA, Rauz S and Wallace GR.
Journal Invest. Ophthalmol. Vis. Sci. 55 (4), 2140-2147 (2014)
Title Analysis of CYP27B1 in multiple sclerosis .
Author Ross JP, Bernales CQ, Lee JD, Sadovnick AD, Traboulsee AL and Vilarino-Guell C.
Journal J. Neuroimmunol. 266 (1-2), 64-66 (2014)
Title [Vitamin D in the etiopathogenesis of autoimmune thyroiditis] .
Author Lacka K and Maciejewski A.
Journal Pol. Merkur. Lekarski 34 (203), 281-285 (2013)
Title Association between polymorphism of the vitamin D metabolism gene CYP27B1 and HLA-B27-associated uveitis. Is a state of relative immunodeficiency pathogenic in HLA B27-positive uveitis? .
Author Steinwender G, Lindner E, Weger M, Plainer S, Renner W, Ardjomand N and El-Shabrawi Y.
Journal PLoS ONE 8 (4), E62244 (2013)
Title No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis .
Author Barizzone N, Pauwels I, Luciano B, Franckaert D, Guerini FR, Cosemans L, Hilven K, Salviati A, Dooley J, Danso-Abeam D, di Sapio A, Cavalla P, Decallonne B, Mathieu C, Liston A, Leone M, Dubois B, D'Alfonso S and Goris A.
Journal Ann. Neurol. 73 (3), 433-437 (2013)
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 MF, Van Weyenbergh J, Solomon D, Guillozo H, Wietzerbin J and Cayre YE.
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 JJ, Wiese R and DeLuca HF.
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 FH.
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 AM, Duggan C, White CP, Posen S and Mason RS.
Journal J. Cell. Physiol. 142 (3), 652-656 (1990)

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