[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/25-hydroxyvitamin-d-1-alpha-hydroxylase-wikipedia\/#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/en\/wiki24\/25-hydroxyvitamin-d-1-alpha-hydroxylase-wikipedia\/","headline":"25-Hydroxyvitamin D 1-alpha-hydroxylase – Wikipedia","name":"25-Hydroxyvitamin D 1-alpha-hydroxylase – Wikipedia","description":"From Wikipedia, the free encyclopedia Mammalian protein found in Homo sapiens CYP27B1 Identifiers Aliases CYP27B1, CP2B, CYP1, CYP1alpha, CYP27B, P450c1,","datePublished":"2014-10-02","dateModified":"2014-10-02","author":{"@type":"Person","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/#Person","name":"lordneo","url":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/","image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"Enzyklop\u00e4die","logo":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/2\/27\/VitaminDSynthesis_WP1531.png","url":"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/2\/27\/VitaminDSynthesis_WP1531.png","height":"1069","width":"1116"},"url":"https:\/\/wiki.edu.vn\/en\/wiki24\/25-hydroxyvitamin-d-1-alpha-hydroxylase-wikipedia\/","wordCount":9643,"articleBody":"From Wikipedia, the free encyclopediaMammalian protein found in Homo sapiensCYP27B1IdentifiersAliasesCYP27B1, CP2B, CYP1, CYP1alpha, CYP27B, P450c1, PDDR, VDD1, VDDR, VDDRI, VDR, cytochrome P450 family 27 subfamily B member 1External IDsOMIM: 609506 MGI: 1098274 HomoloGene: 37139 GeneCards: CYP27B1 EC number1.14.15.18Wikidata25-Hydroxyvitamin D 1-alpha-hydroxylase (VD 1A hydroxylase) also known as calcidiol 1-monooxygenase [5] or cytochrome p450 27B1 (CYP27B1) or simply 1-alpha-hydroxylase is a cytochrome P450 enzyme that in humans is encoded by the CYP27B1 gene.[6][7][8]VD 1A hydroxylase is located in the proximal tubule of the kidney and a variety of other tissues, including skin (keratinocytes), immune cells,[9]  and bone (osteoblasts).[10]Table of ContentsReactions[edit]Clinical significance[edit]Interactive pathway map[edit]References[edit]Further reading[edit]External links[edit]Reactions[edit]The enzyme catalyzes the hydroxylation of  calcifediol to calcitriol (the bioactive form of Vitamin D):[11]calcidiol + 2 reduced adrenodoxin + 2 H+ + O2  \u21cc calcitriol + 2 oxidized adrenodoxin + H2OThe 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.[12]Clinical significance[edit]Loss-of-function mutations in CYP27B1 cause Vitamin D-dependent rickets, type IA.[13]Interactive pathway map[edit]Click on genes, proteins and metabolites below to link to respective articles. [\u00a7 1][[File:|alt=Vitamin D Synthesis Pathway (view \/ edit)]]Vitamin D Synthesis Pathway (view \/ edit)References[edit]^ a b c GRCh38: Ensembl release 89: ENSG00000111012 – Ensembl, May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006724 – Ensembl, May 2017^ “Human PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.^ “Mouse PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.^ “25-Hydroxyvitamin D3 1-Alpha-Hydroxylase – an overview | ScienceDirect Topics”.^ “Entrez Gene: cytochrome P450”.^ Takeyama K, Kitanaka S, Sato T, Kobori M, Yanagisawa J, Kato S (Sep 1997). “25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis”. Science. 277 (5333): 1827\u201330. doi:10.1126\/science.277.5333.1827. PMID\u00a09295274.^ Monkawa T, Yoshida T, Wakino S, Shinki T, Anazawa H, Deluca HF, Suda T, Hayashi M, Saruta T (Oct 1997). “Molecular cloning of cDNA and genomic DNA for human 25-hydroxyvitamin D3 1 alpha-hydroxylase”. Biochemical and Biophysical Research Communications. 239 (2): 527\u201333. doi:10.1006\/bbrc.1997.7508. PMID\u00a09344864.^ Sigmundsdottir H, Pan J, Debes GF, Alt C, Habtezion A, Soler D, Butcher EC (Mar 2007). “DCs metabolize sunlight-induced vitamin D3 to ‘program’ T cell attraction to the epidermal chemokine CCL27” (PDF). Nature Immunology. 8 (3): 285\u201393. doi:10.1038\/ni1433. PMID\u00a017259988. S2CID\u00a09540123.[permanent dead link]^ Kogawa M, Findlay DM, Anderson PH, Ormsby R, Vincent C, Morris HA, Atkins GJ (Oct 2010). “Osteoclastic metabolism of 25(OH)-vitamin D3: a potential mechanism for optimization of bone resorption”. Endocrinology. 151 (10): 4613\u201325. doi:10.1210\/en.2010-0334. PMID\u00a020739402.^ Gray RW, Omdahl JL, Ghazarian JG, DeLuca HF (Dec 1972). “25-Hydroxycholecalciferol-1-hydroxylase. Subcellular location and properties”. The Journal of Biological Chemistry. 247 (23): 7528\u201332. doi:10.1016\/S0021-9258(19)44557-2. PMID\u00a04404596.^ 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\u20136. doi:10.1046\/j.1432-1327.1999.00794.x. PMID\u00a010518789.^ “# 264700 – VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; VDDR1A”. www.omim.org.Further reading[edit]Carr EJ, Niederer HA, Williams J, Harper L, Watts RA, Lyons PA, Smith KG (2009). “Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis”. BMC Medical Genetics. 10: 121. doi:10.1186\/1471-2350-10-121. PMC\u00a03224698. PMID\u00a019951419.Alzahrani AS, Zou M, Baitei EY, Alshaikh OM, Al-Rijjal RA, Meyer BF, Shi Y (Sep 2010). “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\u201383. doi:10.1210\/jc.2009-2278. PMID\u00a020534770.Lagishetty V, Chun RF, Liu NQ, Lisse TS, Adams JS, Hewison M (Jul 2010). “1alpha-hydroxylase and innate immune responses to 25-hydroxyvitamin D in colonic cell lines”. The Journal of Steroid Biochemistry and Molecular Biology. 121 (1\u20132): 228\u201333. doi:10.1016\/j.jsbmb.2010.02.004. PMC\u00a02891066. PMID\u00a020152900.Giroux S, Elfassihi L, Cl\u00e9ment V, Bussi\u00e8res J, Bureau A, Cole DE, Rousseau F (Nov 2010). “High-density polymorphisms analysis of 23 candidate genes for association with bone mineral density”. Bone. 47 (5): 975\u201381. doi:10.1016\/j.bone.2010.06.030. PMID\u00a020654748.Zhou S, LeBoff MS, Glowacki J (Jan 2010). “Vitamin D metabolism and action in human bone marrow stromal cells”. Endocrinology. 151 (1): 14\u201322. doi:10.1210\/en.2009-0969. PMC\u00a02803155. PMID\u00a019966181.Payne AH, Hales DB (Dec 2004). “Overview of steroidogenic enzymes in the pathway from cholesterol to active steroid hormones”. Endocrine Reviews. 25 (6): 947\u201370. doi:10.1210\/er.2003-0030. PMID\u00a015583024.Maver A, Medica I, Salobir B, Tercelj M, Peterlin B (2010). “Lack of association of immune-response-gene polymorphisms with susceptibility to sarcoidosis in Slovenian patients”. Genetics and Molecular Research. 9 (1): 58\u201368. doi:10.4238\/vol9-1gmr682. PMID\u00a020082271.Shen H, Bielak LF, Ferguson JF, Streeten EA, Yerges-Armstrong LM, Liu J, Post W, O’Connell JR, Hixson JE, Kardia SL, Sun YV, Jhun MA, Wang X, Mehta NN, Li M, Koller DL, Hakonarson H, Keating BJ, Rader DJ, Shuldiner AR, Peyser PA, Reilly MP, Mitchell BD (Dec 2010). “Association of the vitamin D metabolism gene CYP24A1 with coronary artery calcification”. Arteriosclerosis, Thrombosis, and Vascular Biology. 30 (12): 2648\u201354. doi:10.1161\/ATVBAHA.110.211805. PMC\u00a02988112. PMID\u00a020847308.Sundqvist E, B\u00e4\u00e4rnhielm M, Alfredsson L, Hillert J, Olsson T, Kockum I (Dec 2010). “Confirmation of association between multiple sclerosis and CYP27B1”. European Journal of Human Genetics. 18 (12): 1349\u201352. doi:10.1038\/ejhg.2010.113. PMC\u00a03002863. PMID\u00a020648053.Fichna M, Zurawek M, Januszkiewicz-Lewandowska D, Gryczy\u00f1ska M, Fichna P, Sowi\u00f1ski J, Nowak J (Aug 2010). “Association of the CYP27B1 C(-1260)A polymorphism with autoimmune Addison’s disease”. Experimental and Clinical Endocrinology & Diabetes. 118 (8): 544\u20139. doi:10.1055\/s-0029-1241206. PMID\u00a019998245.Holt SK, Kwon EM, Koopmeiners JS, Lin DW, Feng Z, Ostrander EA, Peters U, Stanford JL (Sep 2010). “Vitamin D pathway gene variants and prostate cancer prognosis”. The Prostate. 70 (13): 1448\u201360. doi:10.1002\/pros.21180. PMC\u00a02927712. PMID\u00a020687218.Bu FX, Armas L, Lappe J, Zhou Y, Gao G, Wang HW, Recker R, Zhao LJ (Nov 2010). “Comprehensive association analysis of nine candidate genes with serum 25-hydroxy vitamin D levels among healthy Caucasian subjects”. Human Genetics. 128 (5): 549\u201356. doi:10.1007\/s00439-010-0881-9. PMID\u00a020809279. S2CID\u00a05782938.Fichna M, Zurawek M, Januszkiewicz-Lewandowska D, Fichna P, Nowak J (Oct 2010). “PTPN22, PDCD1 and CYP27B1 polymorphisms and susceptibility to type 1 diabetes in Polish patients”. International Journal of Immunogenetics. 37 (5): 367\u201372. doi:10.1111\/j.1744-313X.2010.00935.x. PMID\u00a020518841. S2CID\u00a019398299.Wjst M, Heimbeck I, Kutschke D, Pukelsheim K (Jul 2010). “Epigenetic regulation of vitamin D converting enzymes”. The Journal of Steroid Biochemistry and Molecular Biology. 121 (1\u20132): 80\u20133. doi:10.1016\/j.jsbmb.2010.03.056. PMID\u00a020304056. S2CID\u00a029338132.Liu CY, Wu MC, Chen F, Ter-Minassian M, Asomaning K, Zhai R, Wang Z, Su L, Heist RS, Kulke MH, Lin X, Liu G, Christiani DC (Jul 2010). “A Large-scale genetic association study of esophageal adenocarcinoma risk”. Carcinogenesis. 31 (7): 1259\u201363. doi:10.1093\/carcin\/bgq092. PMC\u00a02893800. PMID\u00a020453000.Sunyer J, Basaga\u00f1a X, Gonz\u00e1lez JR, J\u00falvez J, Guerra S, Bustamante M, de Cid R, Ant\u00f3 JM, Torrent M (Oct 2010). “Early life environment, neurodevelopment and the interrelation with atopy”. Environmental Research. 110 (7): 733\u20138. Bibcode:2010ER….110..733S. doi:10.1016\/j.envres.2010.07.005. PMID\u00a020701904.Simon KC, Munger KL, Ascherio A (Feb 2010). “Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis”. Multiple Sclerosis (Houndmills, Basingstoke, England). 16 (2): 133\u20138. doi:10.1177\/1352458509355069. PMC\u00a02819633. PMID\u00a020007432.Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O’Brien SJ (2010).  Badger JH (ed.). “Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression”. PLOS ONE. 5 (9): e12862. Bibcode:2010PLoSO…512862H. doi:10.1371\/journal.pone.0012862. PMC\u00a02943476. PMID\u00a020877624.Dusso AS, Brown AJ, Slatopolsky E (Jul 2005). “Vitamin D”. American Journal of Physiology. Renal Physiology. 289 (1): F8\u201328. doi:10.1152\/ajprenal.00336.2004. PMID\u00a015951480.Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S (Oct 2010). “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\u20133. doi:10.2337\/dc10-0452. PMC\u00a02945168. PMID\u00a020628086.External links[edit]CYP1CYP2CYP3 (CYP3A)CYP4CYP5-20CYP21-49CYP51-69CYP71-99CYP71 (C1, C2, C3, C4, Z6, AJ4, AV1, BA1)CYP72A1CYP73A1CYP74 (D1)CYP75 (A1, B1)CYP76 (B6, M7)CYP79 (A1, A2, B1, B2, B3, D1, D2, D3, D4)CYP80 (A1, B1, G2)CYP81 (E1, E3, E7, E9)CYP88D6CYP90C1CYP93E1CYP97C1CYP99A3CYP101-281CYP301-499CYP501-699CYP701-999  "},{"@context":"http:\/\/schema.org\/","@type":"BreadcrumbList","itemListElement":[{"@type":"ListItem","position":1,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/#breadcrumbitem","name":"Enzyklop\u00e4die"}},{"@type":"ListItem","position":2,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/25-hydroxyvitamin-d-1-alpha-hydroxylase-wikipedia\/#breadcrumbitem","name":"25-Hydroxyvitamin D 1-alpha-hydroxylase – Wikipedia"}}]}]