Biology:25-Hydroxyvitamin D 1-alpha-hydroxylase
From HandWiki
Short description: Mammalian protein found in Homo sapiens
 Generic protein structure example |
| 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 | ||||||||
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25-Hydroxyvitamin D 1-alpha-hydroxylase (VD 1A hydroxylase) also known as calcidiol 1-monooxygenase [1] or cytochrome p450 27B1 (CYP27B1) or simply 1-alpha-hydroxylase is a cytochrome P450 enzyme that in humans is encoded by the CYP27B1 gene.[2][3][4]
VD 1A hydroxylase is located in the proximal tubule of the kidney and a variety of other tissues, including skin (keratinocytes), immune cells,[5] and bone (osteoblasts).[6]
Reactions
The enzyme catalyzes the hydroxylation of calcifediol to calcitriol (the bioactive form of Vitamin D):[7]
- calcidiol + 2 reduced adrenodoxin + 2 H+ + O2 ⇌ calcitriol + 2 oxidized adrenodoxin + H2O
The enzyme is also able to oxidize ercalcidiol (25-OH D2) to ercalcitriol, secalciferol to calcitetrol, and 25-hydroxy-24-oxocalciol to (1S)-1,25-dihydroxy-24-oxocalciol.[8]
Calcidiol
Clinical significance
Loss-of-function mutations in CYP27B1 cause Vitamin D-dependent rickets, type IA.[9]
Interactive pathway map
References
- ↑ "25-Hydroxyvitamin D3 1-Alpha-Hydroxylase - an overview | ScienceDirect Topics". https://www.sciencedirect.com/topics/medicine-and-dentistry/25-hydroxyvitamin-d3-1-alpha-hydroxylase.
- ↑ "Entrez Gene: cytochrome P450". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1594.
- ↑ "25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis". Science 277 (5333): 1827–30. Sep 1997. doi:10.1126/science.277.5333.1827. PMID 9295274.
- ↑ "Molecular cloning of cDNA and genomic DNA for human 25-hydroxyvitamin D3 1 alpha-hydroxylase". Biochemical and Biophysical Research Communications 239 (2): 527–33. Oct 1997. doi:10.1006/bbrc.1997.7508. PMID 9344864.
- ↑ "DCs metabolize sunlight-induced vitamin D3 to 'program' T cell attraction to the epidermal chemokine CCL27". Nature Immunology 8 (3): 285–93. Mar 2007. doi:10.1038/ni1433. PMID 17259988. http://www.biochem.wisc.edu/courses/biochem901/secure/materials/readings/08Sigmundsdottir_etal.pdf.[yes|permanent dead link|dead link}}]
- ↑ "Osteoclastic metabolism of 25(OH)-vitamin D3: a potential mechanism for optimization of bone resorption". Endocrinology 151 (10): 4613–25. Oct 2010. doi:10.1210/en.2010-0334. PMID 20739402.
- ↑ "25-Hydroxycholecalciferol-1-hydroxylase. Subcellular location and properties". The Journal of Biological Chemistry 247 (23): 7528–32. Dec 1972. doi:10.1016/S0021-9258(19)44557-2. PMID 4404596.
- ↑ Sawada, N; Sakaki, T; Kitanaka, S; Takeyama, K; Kato, S; Inouye, K (November 1999). "Enzymatic properties of human 25-hydroxyvitamin D3 1alpha-hydroxylase coexpression with adrenodoxin and NADPH-adrenodoxin reductase in Escherichia coli.". European Journal of Biochemistry 265 (3): 950–6. doi:10.1046/j.1432-1327.1999.00794.x. PMID 10518789.
- ↑ "# 264700 - VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; VDDR1A" (in en-us). https://www.omim.org/entry/264700.
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.
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