Biology:25-Hydroxyvitamin D3 1-alpha-hydroxylase

Generic protein structure example

25-Hydroxyvitamin D₃ 1-alpha-hydroxylase (VD3 1A hydroxylase) also known as cytochrome p450 27B1 (CYP27B1) or simply 1-alpha-hydroxylase is a cytochrome P450 enzyme that in humans is encoded by the CYP27B1 gene.

VD3 1A hydroxylase is located in the proximal tubule of the kidney and a variety of other tissues, including skin (keratinocytes), immune cells, and bone (osteoblasts). The enzyme catalyzes the hydroxylation of calcifediol to calcitriol (the bioactive form of Vitamin D):

calcidiol + 2 reduced adrenodoxin + 2 H⁺ + O₂ ⇌ calcitriol + 2 oxidized adrenodoxin + H₂O

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  Calcidiol

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  Calcitriol

calcidiol 1-monooxygenase Identifiers EC number 1.14.15.18 CAS number 9081-36-1 Databases IntEnz IntEnz view BRENDA BRENDA entry ExPASy NiceZyme view KEGG KEGG entry MetaCyc metabolic pathway PRIAM profile PDB structures RCSB PDB PDBe PDBsum Gene Ontology AmiGO / QuickGO Search PMC articles PubMed articles NCBI proteins

Further reading

• "Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis". BMC Medical Genetics 10: 121. 2009. doi:10.1186/1471-2350-10-121. PMID 19951419. 
• "A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1". The Journal of Clinical Endocrinology and Metabolism 95 (9): 4176–83. Sep 2010. doi:10.1210/jc.2009-2278. PMID 20534770. 
• "1alpha-hydroxylase and innate immune responses to 25-hydroxyvitamin D in colonic cell lines". The Journal of Steroid Biochemistry and Molecular Biology 121 (1–2): 228–33. Jul 2010. doi:10.1016/j.jsbmb.2010.02.004. PMID 20152900. 
• "High-density polymorphisms analysis of 23 candidate genes for association with bone mineral density". Bone 47 (5): 975–81. Nov 2010. doi:10.1016/j.bone.2010.06.030. PMID 20654748. 
• "Vitamin D metabolism and action in human bone marrow stromal cells". Endocrinology 151 (1): 14–22. Jan 2010. doi:10.1210/en.2009-0969. PMID 19966181. 
• "Overview of steroidogenic enzymes in the pathway from cholesterol to active steroid hormones". Endocrine Reviews 25 (6): 947–70. Dec 2004. doi:10.1210/er.2003-0030. PMID 15583024. 
• "Lack of association of immune-response-gene polymorphisms with susceptibility to sarcoidosis in Slovenian patients". Genetics and Molecular Research 9 (1): 58–68. 2010. doi:10.4238/vol9-1gmr682. PMID 20082271. 
• "Association of the vitamin D metabolism gene CYP24A1 with coronary artery calcification". Arteriosclerosis, Thrombosis, and Vascular Biology 30 (12): 2648–54. Dec 2010. doi:10.1161/ATVBAHA.110.211805. PMID 20847308. 
• "Confirmation of association between multiple sclerosis and CYP27B1". European Journal of Human Genetics 18 (12): 1349–52. Dec 2010. doi:10.1038/ejhg.2010.113. PMID 20648053. 
• "Association of the CYP27B1 C(-1260)A polymorphism with autoimmune Addison's disease". Experimental and Clinical Endocrinology & Diabetes 118 (8): 544–9. Aug 2010. doi:10.1055/s-0029-1241206. PMID 19998245. 
• "Vitamin D pathway gene variants and prostate cancer prognosis". The Prostate 70 (13): 1448–60. Sep 2010. doi:10.1002/pros.21180. PMID 20687218. 
• "Comprehensive association analysis of nine candidate genes with serum 25-hydroxy vitamin D levels among healthy Caucasian subjects". Human Genetics 128 (5): 549–56. Nov 2010. doi:10.1007/s00439-010-0881-9. PMID 20809279. 
• "PTPN22, PDCD1 and CYP27B1 polymorphisms and susceptibility to type 1 diabetes in Polish patients". International Journal of Immunogenetics 37 (5): 367–72. Oct 2010. doi:10.1111/j.1744-313X.2010.00935.x. PMID 20518841. 
• "Epigenetic regulation of vitamin D converting enzymes". The Journal of Steroid Biochemistry and Molecular Biology 121 (1–2): 80–3. Jul 2010. doi:10.1016/j.jsbmb.2010.03.056. PMID 20304056. 
• "A Large-scale genetic association study of esophageal adenocarcinoma risk". Carcinogenesis 31 (7): 1259–63. Jul 2010. doi:10.1093/carcin/bgq092. PMID 20453000. 
• "Early life environment, neurodevelopment and the interrelation with atopy". Environmental Research 110 (7): 733–8. Oct 2010. doi:10.1016/j.envres.2010.07.005. PMID 20701904. Bibcode: 2010ER....110..733S. 
• "Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis". Multiple Sclerosis (Houndmills, Basingstoke, England) 16 (2): 133–8. Feb 2010. doi:10.1177/1352458509355069. PMID 20007432. 
• Badger, Jonathan H., ed (2010). "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression". PLOS ONE 5 (9): e12862. doi:10.1371/journal.pone.0012862. PMID 20877624. Bibcode: 2010PLoSO...512862H. 
• "Vitamin D". American Journal of Physiology. Renal Physiology 289 (1): F8–28. Jul 2005. doi:10.1152/ajprenal.00336.2004. PMID 15951480. 
• "Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study". Diabetes Care 33 (10): 2250–3. Oct 2010. doi:10.2337/dc10-0452. PMID 20628086. 

External links

• 25-Hydroxyvitamin+D3+1-alpha-Hydroxylase at the US National Library of Medicine Medical Subject Headings (MeSH)
• Human CYP27B1 genome location and CYP27B1 gene details page in the UCSC Genome Browser.
• Human VDR genome location and VDR gene details page in the UCSC Genome Browser.