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Cytochrome P450, family 2, subfamily R, polypeptide 1

CYP2R1, vitamin D 25-hydroxylase
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. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CYP24, xVDR, CTX, HAD, AGE
Papers on CYP2R1
L-cysteine supplementation upregulates glutathione (GSH) and vitamin D binding protein (VDBP) in hepatocytes cultured in high glucose and in vivo in liver, and increases blood levels of GSH, VDBP, and 25-hydroxy-vitamin D in Zucker diabetic fatty rats.
Micinski et al., Shreveport, United States. In Mol Nutr Food Res, Feb 2016
In vivo, LC supplementation increased GSH and protein and mRNA expression of VDBP and vitamin D 25-hydroxylase (CYP2R1) in the liver, and simultaneously resulted in elevated blood levels of LC and GSH, as well as increases in VDBP and 25(OH) vitamin D levels, and decreased inflammatory biomarkers in ZDF rats compared with those in placebo-supplemented ZDF rats consuming a similar diet.
Environmental and genetic determinants of vitamin D status among older adults in London, UK.
Martineau et al., Adelaide, Australia. In J Steroid Biochem Mol Biol, Feb 2016
Fifteen single nucleotide polymorphisms (SNP) in 6 genes (DBP, DHCR7, CYP2R1, CYP27B1, CYP24A1, VDR) previously reported to associate with circulating 25(OH)D concentration were typed using Taqman allelic discrimination assays.
Vitamin D: Metabolism, Molecular Mechanism of Action, and Pleiotropic Effects.
Carmeliet et al., Newark, United States. In Physiol Rev, Jan 2016
Although the identification of mechanisms mediating VDR-regulated transcription has been one focus of recent research in the field, other topics of fundamental importance include the identification and functional significance of proteins involved in the metabolism of vitamin D. CYP2R1 has been identified as the most important 25-hydroxylase, and a critical role for CYP24A1 in humans was noted in studies showing that inactivating mutations in CYP24A1 are a probable cause of idiopathic infantile hypercalcemia.
Genome-wide association study of 25(OH) Vitamin D concentrations in Punjabi Sikhs: Results of the Asian Indian diabetic heart study.
Sanghera et al., Oklahoma City, United States. In J Steroid Biochem Mol Biol, Jan 2016
Additionally, our study replicated 3 of 5 known GWAS genes associated with 25(OH)D concentrations including GC (p=0.007) and CYP2R1 (p=0.019) reported in Europeans and the DAB1 (p=0.003), reported in Hispanics.
Motor neuron-like NSC-34 cells as a new model for the study of vitamin D metabolism in the brain.
Norlin et al., Uppsala, Sweden. In J Steroid Biochem Mol Biol, Jan 2016
The 25-hydroxylation involves mainly CYP2R1 and CYP27A1, whereas 1α-hydroxylation and 24-hydroxylation are catalyzed by CYP27B1 and CYP24A1, respectively, and are tightly regulated to maintain adequate levels of the active vitamin D hormone, 1α,25(OH)2D3.
Single nucleotide polymorphisms in the vitamin D pathway associating with circulating concentrations of vitamin D metabolites and non-skeletal health outcomes: Review of genetic association studies.
Martineau et al., London, United Kingdom. In J Steroid Biochem Mol Biol, Jan 2016
We therefore conducted a literature review to identify reports of statistically significant associations between single nucleotide polymorphisms (SNP) in 11 vitamin D pathway genes (DHCR7, CYP2R1, CYP3A4, CYP27A1, DBP, LRP2, CUB, CYP27B1, CYP24A1, VDR and RXRA) and non-bone health outcomes and circulating levels of 25-hydroxyvitamin D (25[OH]D and 1,25-dihydroxyvitamin D (1,25[OH]2D).
Genetics, Diet, and Season Are Associated with Serum 25-Hydroxycholecalciferol Concentration in a Yup'ik Study Population from Southwestern Alaska.
Thummel et al., Seattle, United States. In J Nutr, Jan 2016
METHODS: This study was a cross-sectional design that assessed the associations of traditional diet (via a biomarker, the RBC δ(15)N value), age, gender, body mass index (BMI), community location, and genotype of select single nucleotide polymorphisms (SNPs) in cytochrome P450 family 2, subfamily R, peptide 1 (CYP2R1), 7-dehydrocholesterol reductase (DHCR7), and vitamin D binding protein (GC) with serum 25(OH)D3 concentrations in 743 Yup'ik male and female participants, aged 14-93 y, recruited between September 2009 and December 2013.
Effects of repeated administration of rifampicin and isoniazid on vitamin D metabolism in mice.
Jiang et al., Changsha, China. In Steroids, Dec 2015
To fill this critical gap, serum vitamin D status and the expression of hepatic CYP2R1 and CYP27A1 and renal CYP27B1 and CYP24A1 were assessed in mice following 3-week exposure to 100mg/kg/day RIF or (and) 50mg/kg/day INH.
[The role of the liver in vitamin D metabolism].
Okano, Kōbe, Japan. In Clin Calcium, Nov 2015
The roles of the liver in vitamin D metabolism including the regulatory mechanism of the expression and activation of a 25OHD₃biosynthetic enzyme, CYP2R1, remain largely unsolved.
Variants in Vitamin D Binding Protein Gene Are Associated With Gestational Diabetes Mellitus.
Nie et al., Beijing, China. In Medicine (baltimore), Oct 2015
To investigate whether single nucleotide polymorphisms (SNPs) within 4 representative genes (VDR, GC, CYP2R1, and CYP24A1) encoding the core proteins involved in vitamin D production, degradation, and ligand-dependent signaling pathway are associated with gestational diabetes mellitus (GDM) in a Chinese population.
Relative importance of summer sun exposure, vitamin D intake, and genes to vitamin D status in Dutch older adults: The B-PROOF study.
de Groot et al., Wageningen, Netherlands. In J Steroid Biochem Mol Biol, Sep 2015
Sun exposure was assessed with a structured questionnaire (n=1012), vitamin D intake using a Food Frequency Questionnaire (n=596), and data on genetic variation that may affect 25(OH)D status was obtained for 4 genes, DHCR7 (rs12785878), CYP2R1 (rs10741657), GC (rs2282679), and CYP24A1 (rs6013897) (n=2530).
High prevalence of vitamin D deficiency among women of child-bearing age in Lahore Pakistan, associating with lack of sun exposure and illiteracy.
Martineau et al., Lahore, Pakistan. In Bmc Womens Health, 2014
Multivariate analysis was performed to identify environmental and genetic determinants of vitamin D status: polymorphisms in genes encoding the vitamin D receptor, vitamin D 25-hydroxylase enzyme CYP2R1 and vitamin D binding protein [DBP] were investigated.
Preferential expression of cytochrome CYP CYP2R1 but not CYP1B1 in human cord blood hematopoietic stem and progenitor cells.
Jiang et al., Suzhou, China. In Acta Pharm Sin B, 2014
Further quantitative RNA-PCR analysis of the detected CYP transcripts yielded evidence for preferential expression of CYP2R1 in CD34+ CBHSPCs relative to MNCs; and for greater expression of CYP1B1 in MNCs relative to CD34+ CBHSPCs.
Genetic Polymorphisms in Vitamin D Metabolism and Signaling Genes and Risk of Breast Cancer: A Nested Case-Control Study.
Zeleniuch-Jacquotte et al., Uppsala, Sweden. In Plos One, 2014
We also genotyped specific SNPs in four other genes related to vitamin D metabolism and signaling (GC/VDBP, CYP2R1, DHCR7, and CYP27B1).
Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease type 1 diabetes.
Todd et al., Cambridge, United Kingdom. In Diabetes, 2011
Study confirms that variation in CYP2R1 is associated with predisposition to autoimmune disease type 1 diabetes.
Bone mineral density and testicular failure: evidence for a role of vitamin D 25-hydroxylase in human testis.
Selice et al., Padova, Italy. In J Clin Endocrinol Metab, 2011
We found a lower gene and protein expression of CYP2R1 in samples with hypospermatogenesis and Sertoli-cell-only syndrome.
Cytochromes P450 are essential players in the vitamin D signaling system.
Schuster, Vienna, Austria. In Biochim Biophys Acta, 2011
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.
Comprehensive association analysis of nine candidate genes with serum 25-hydroxy vitamin D levels among healthy Caucasian subjects.
Zhao et al., Omaha, United States. In Hum Genet, 2010
The results suggest that the CYP2R1 and GC genes may contribute to the variation of serum 25(OH)D levels in healthy populations.
Common genetic determinants of vitamin D insufficiency: a genome-wide association study.
Spector et al., Boston, United States. In Lancet, 2010
FINDINGS: Variants at three loci reached genome-wide significance in discovery cohorts for association with 25-hydroxyvitamin D concentrations, and were confirmed in replication cohorts: 4p12 (overall p=1.9x10(-109) for rs2282679, in GC); 11q12 (p=2.1x10(-27) for rs12785878, near DHCR7); and 11p15 (p=3.3x10(-20) for rs10741657, near CYP2R1).
A rare haplotype of the vitamin D receptor gene is protective against diabetic nephropathy.
Warren 3/UK GoKinD Study Group et al., Ireland. In Nephrol Dial Transplant, 2010
No significant differences were observed in genotype or allele frequencies between case and control groups for VDR, CYP27B1 or CYP2R1 SNPs
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