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  4. Recombinant Human Vitamin D 25-hydroxylase (CYP2R1)

Recombinant Human Vitamin D 25-hydroxylase (CYP2R1)

  • 货号：
    CSB-YP744288HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP744288HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP744288HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 货号：
    CSB-BP744288HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP744288HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    CYP2R1
  • Uniprot No.：
  • 别名：
    CP2R1_HUMAN; CYP2R1; Cytochrome P450 2R1; Cytochrome P450 family 2 R1; Cytochrome P450 family 2 subfamily R polypeptide 1; EC 1.14.13.15; MGC4663; Vitamin D 25 hydroxylase; Vitamin D 25-hydroxylase
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-501
  • 氨基酸序列
    MWKLWRAEEG AAALGGALFL LLFALGVRQL LKQRRPMGFP PGPPGLPFIG NIYSLAASSE LPHVYMRKQS QVYGEIFSLD LGGISTVVLN GYDVVKECLV HQSEIFADRP CLPLFMKMTK MGGLLNSRYG RGWVDHRRLA VNSFRYFGYG QKSFESKILE ETKFFNDAIE TYKGRPFDFK QLITNAVSNI TNLIIFGERF TYEDTDFQHM IELFSENVEL AASASVFLYN AFPWIGILPF GKHQQLFRNA AVVYDFLSRL IEKASVNRKP QLPQHFVDAY LDEMDQGKND PSSTFSKENL IFSVGELIIA GTETTTNVLR WAILFMALYP NIQGQVQKEI DLIMGPNGKP SWDDKCKMPY TEAVLHEVLR FCNIVPLGIF HATSEDAVVR GYSIPKGTTV ITNLYSVHFD EKYWRDPEVF HPERFLDSSG YFAKKEALVP FSLGRRHCLG EHLARMEMFL FFTALLQRFH LHFPHELVPD LKPRLGMTLQ PQPYLICAER R
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    A cytochrome P450 monooxygenase involved in activation of vitamin D precursors. Catalyzes hydroxylation at C-25 of both forms of vitamin D, vitamin D(2) and D(3) (calciol). Can metabolize vitamin D analogs/prodrugs 1alpha-hydroxyvitamin D(2) (doxercalciferol) and 1alpha-hydroxyvitamin D(3) (alfacalcidol) forming 25-hydroxy derivatives. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase).
  • 基因功能参考文献：
    1. Genetic variants of CYP2R1 are key determinants of serum 25OHD levels and are highly associated with myocardial infarction risk. The three studied SNPs were associated with significantly different total 25OHD levels and their genotype distributions differed significantly between MI patients and controls where the high risk genotypes were AG/AA for rs2060793, AG/GG for rs1993116 and AG/AA for rs10766197. PMID: 29804528
    2. Published articles provide evidence supporting a major role for the rs10741657 polymorphism of the CYP2R1 gene in determining 25(OH)D levels and the presence of vitamin D deficiency. [review] PMID: 30120973
    3. Results also showed for the first that polymorphisms of CYP2R1 gene (rs1993116 and rs10766197) were significantly associated with type 2 diabetes mellitus in a Chinese rural population. PMID: 30081191
    4. No significant differences were found between ischemic stroke patients and controls in terms of CYP24A1 rs927650 and CYP2R1 rs10741657 genotype frequencies. Polymorphic allele frequencies of CYP24A1 rs927650 and CYP2R1 rs10741657 were 0.414 and 0.660 in stroke patients, respectively. PMID: 29528271
    5. genetic association study in population in north India: Data suggest (1) GT allele of VDBP SNP rs7041, (2) VDBP allelic combination (GC1F/1F: T allele rs4588; C allele rs7041), and (3) GA allele of CYP2R1 SNP rs2060793 are associated with vitamin D deficiency in women with PCOS (polycystic ovarian syndrome) in population studied. (VDBP = vitamin D-binding protein; CYP2R1 = cytochrome P450 family 2 subfamily R member 1) PMID: 28008453
    6. The results of this study suggested that a role of CYP2R1 rs10766197 in both risk and progression of Muscle sclerosis with sex-related differences. PMID: 28834557
    7. CYP2R1 polymorphisms are important modulators of circulating 25-hydroxyvitamin D levels in elderly females with vitamin insufficiency. PMID: 27473187
    8. CYP3A4*22 and combined CYP3A genotypes are unlikely to provide additional information beyond CYP3A5 genotype. PMID: 27314545
    9. This article concludes that mutations in CYP2R1 are responsible for an atypical form of vitamin D-deficiency rickets, which has been classified as vitamin D dependent rickets type 1B (VDDR1B, MIM 600081). [review] PMID: 27473561
    10. The s describe a low-frequency CYP2R1 coding variant that exerts the largest effect upon 25-hydroxyvitamin D levels identified to date in the general European population and implicates vitamin D in the etiology of multiple sclerosis. PMID: 28757204
    11. Allelic variations in CYP2R1 and GC affect vitamin D levels, but variant alleles on VDR and DHCR7 were not correlated with vitamin D deficiency. PMID: 26038244
    12. Expression of CYP2R1 was in spermatozoa from healthy controls compared with infertile men, however the percentage of spermatozoa expressing CYP2R1 was not significantly higher. PMID: 27977320
    13. our study for the first time reports a potentially causative role of CYP2R1 mutation in Vogt-koyanagi-harada disease. PMID: 27716192
    14. In a Pakistani population, no statistically significant associations between SNPs in VDR, DBP, and CYP2R1 and tuberculosis was demonstrated. PMID: 27160686
    15. Vitamin D related (VDR rs2228570 and CYP2R1 rs10741657) and IL28B rs12979860 genes polymorphisms accurately assure sustained viral response in naive CHC G4 patients treated with low cost standard therapy. PMID: 26911666
    16. The aim of this study was to investigate the association of three polymorphisms in the GC gene (rs7041 and rs4588) and CYP2R1 gene (rs10741657) on 25-(OH) VD serum concentration among Jordanians. PMID: 26383826
    17. rs11023374 in CYP2R1 was significantly associated with serum 25(OH)D3. PMID: 26661839
    18. The VDR and CYP2R1 variants may be involved in genetic interactions in the pathogenesis of persistent allergic rhinitis. PMID: 26177022
    19. Significant associations were found between the GC (rs2282679 and rs7041), CYP2R1 (rs10741657) single nucleotide polymorphisms and the active form of Vitamin D, 25(OH)D. PMID: 25405862
    20. The 25-hydroxylases CYP2R1 and CYP27A1 catalyze vitamin D to its circulating form 25-hydroxyvitamin D. PMID: 25845986
    21. A significant association was found between decreased ASD risk and child CYP2R1 AA-genotype. PMID: 26073892
    22. Found a significant upregulation of the CYP2R1 gene in human brain pericytes challenged with tumor necrosis factor-alpha and interferon-gamma. Results suggest the existence of an autocrine/paracrine vitamin D system in the neurovascular unit. PMID: 25730676
    23. CYP2R1 variants had no significant association with serum 25-OHD3 levels among postmenopausal women of the Han ethnic group in Beijing. PMID: 25079458
    24. CYP2R1 alleles have dosage-dependent effects on vitamin D homeostasis. CYP2R1 mutations cause a novel form of genetic vitamin D deficiency with semidominant inheritance. PMID: 25942481
    25. Data indicate that genome-wide significant associations were found both at age 6 and 14 with single nucleotide polymorphisms (SNPs) on chromosome 11p15 in phosphodiesterase 3B, cGMP-inhibited protein PDE3B/cytochrome P-450 CYP2R1 genes. PMID: 25208829
    26. In this mendelian randomisation study, we generated an allele score (25[OH]D synthesis score) based on variants of genes that affect 25(OH)D synthesis or substrate availability (CYP2R1 and DHCR7) PMID: 24974252
    27. The CYP2R1 rs10741657 polymorphism is a novel genetic marker for coronary artery disease. PMID: 25003556
    28. genetic association studies in populations in Denmark: Data suggest that an SNP in CYP2R1 (rs10741657) is associated with response to either UVB treatment or vitamin D3 fortification of bread and milk in prevention of vitamin D deficiency in winter. PMID: 25527766
    29. The increase in [25(OH)D] attributable to vitamin D3 supplementation may vary according to common genetic differences in vitamin D 25-hydroxylase (CYP2R1), 24-hydroxylase (CYP24A1), and the vitamin D receptor (VDR) genes. PMID: 25070320
    30. Data indicate that 1,25(OH)2D3 treatment time-dependently increased Cytochrome P450 2R1 (CYP2R1) expression in oral squamous cell carcinomas. PMID: 24497297
    31. genetic differences in the VDR gene may be involved in the development of AITD and the activity of GD, whereas the genetic differences in the GC and CYP2R1 genes may be involved with the intractability of GD. PMID: 25046415
    32. Low baseline DNA methylation levels in the promoter region of CYP2R1 is associated with low vitamin D response. PMID: 24128439
    33. common polymorphisms in GC and CYP2R1 are associated with serum 25(OH)D concentrations in the Caucasian population and that certain haplotypes may predispose to lower 25(OH)D concentrations in late summer in Denmark. PMID: 24587115
    34. Results show that upregulated gene expression of CYP2R1 may lead to misbalance of vitamin D metabolites and may contribute to the pathogenesis of RCC PMID: 24245571
    35. Studied whether abnormal endometrial expression of CYP27A1 and/or CYP2R1 may impair VDR-antiproliferative properties in endometrial carcinoma. PMID: 24732451
    36. genetic association study in population in Singapore: Data suggest that diet and SNPs in CYP2R1, CYP3A4 (cytochrome P450, subfamily 3A, polypeptide 4), and GC/VDBP (group-specific component) interact to contribute to vitamin D deficiency. PMID: 22583563
    37. SNPs in the CYP24A1, CYP2R1, calcium sensing receptor (CASR), vitamin D binding protein (GC), retinoid X receptor-alpha (RXRA) and megalin (LRP2) genes were significantly associated with pancreas cancer risk. PMID: 23826131
    38. Data indicate that the same nucleotide polymorphisms (SNPs) genotypes of CYP2R1, GC and DHCR7 that are associated with reduced 25(OH)D3 serum levels were found to be associated with hepatitis C virus (HCV)-related hepatocellular carcinoma (HCC). PMID: 23734184
    39. The GAA haplotype of the CYP2R1 gene (P = 0.026) is associated with susceptibility to rickets. PMID: 24073854
    40. In vitro and in vivo studies revealed that CYP2R1 expression in Leydig cells appeared to be hCG dependent. PMID: 23047203
    41. Genetic variation in CYP2R1 associated with lower serum 25(OH)D has a decreased risk of aggressive prostate cancer. PMID: 23377224
    42. CYP2R1 rs10741657 A>G polymorphism is associated with colon cancer recurrence. PMID: 23793229
    43. Finding suggest that GG genotype of CYP2R1 polymorphism and/or CC genotype of CYP27B1 polymorphism increased the risk of developing of type 1 diabetes in Egyptian children. PMID: 23063903
    44. genetic association studies in postmenopausal Caucasian women in US: Data suggest that 4 SNPs in CYP2R1 are associated with 25-hydroxyvitamin D in blood (i.e., vitamin D deficiency); vitamin D intake/seasonal sunlight exposure modify these effects. PMID: 23190755
    45. Our study is the first to confirm the association of variants in DHCR7 and CYP2R1 with 25(OH)-vitamin D levels in patients with chronic liver diseases. PMID: 22576297
    46. Our study found that variant genotypes of single nucleotide polymorphisms in the CYP2R1 gene, rs10766197, rs12794714, rs10741657, rs2060793 and rs1562902, were all significantly associated with plasma 25-hydroxyvitamin D levels. PMID: 22801813
    47. CYP2R1 is a major vitamin D 25-hydroxylase that plays a fundamental role in activation of this essential vitamin. PMID: 22855339
    48. Study confirms that variation in CYP2R1 is associated with predisposition to autoimmune disease type 1 diabetes. PMID: 21441443
    49. We found a lower gene and protein expression of CYP2R1 in samples with hypospermatogenesis and Sertoli-cell-only syndrome. PMID: 21270327
    50. Studies indicate that vitamin D synthesis, a two-step process, starts with a 25-hydroxylation primarily by CYP2R1 and a subsequent 1alpha-hydroxylation via CYP27B1. PMID: 20619365

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  • 相关疾病：
    Rickets vitamin D-dependent 1B (VDDR1B)
  • 亚细胞定位：
    Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.
  • 蛋白家族：
    Cytochrome P450 family
  • 数据库链接：

    HGNC: 20580

    OMIM: 600081

    KEGG: hsa:120227

    STRING: 9606.ENSP00000334592

    UniGene: Hs.371427