View source for 25-Hydroxyvitamin D3 1-alpha-hydroxylase

{{DISPLAYTITLE:25-Hydroxyvitamin D<sub>3</sub> 1-alpha-hydroxylase}}
{{Infobox_gene}}

'''25-Hydroxyvitamin D<sub>3</sub> 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]].<ref name="entrez">{{cite web | title = Entrez Gene: cytochrome P450| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1594| accessdate = }}</ref><ref name="pmid9295274">{{cite journal | vauthors = Takeyama K, Kitanaka S, Sato T, Kobori M, Yanagisawa J, Kato S | title = 25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis | journal = Science | volume = 277 | issue = 5333 | pages = 1827–30 | date = Sep 1997 | pmid = 9295274 | doi = 10.1126/science.277.5333.1827 }}</ref><ref name="pmid9344864">{{cite journal | vauthors = Monkawa T, Yoshida T, Wakino S, Shinki T, Anazawa H, Deluca HF, Suda T, Hayashi M, Saruta T | title = Molecular cloning of cDNA and genomic DNA for human 25-hydroxyvitamin D3 1 alpha-hydroxylase | journal = Biochemical and Biophysical Research Communications | volume = 239 | issue = 2 | pages = 527–33 | date = Oct 1997 | pmid = 9344864 | doi = 10.1006/bbrc.1997.7508 }}</ref>

VD3 1A hydroxylase is located in the [[proximal tubule]] of the [[kidney]] and a variety of other tissues, including skin ([[keratinocyte]]s), immune cells,<ref name="pmid17259988">{{cite journal | vauthors = Sigmundsdottir H, Pan J, Debes GF, Alt C, Habtezion A, Soler D, Butcher EC | title = DCs metabolize sunlight-induced vitamin D3 to 'program' T cell attraction to the epidermal chemokine CCL27 | journal = Nature Immunology | volume = 8 | issue = 3 | pages = 285–93 | date = Mar 2007 | pmid = 17259988 | doi = 10.1038/ni1433 | url = http://www.biochem.wisc.edu/courses/biochem901/secure/materials/readings/08Sigmundsdottir_etal.pdf }}</ref>  and bone ([[osteoblast]]s).<ref name="pmid20739402">{{cite journal | vauthors = Kogawa M, Findlay DM, Anderson PH, Ormsby R, Vincent C, Morris HA, Atkins GJ | title = Osteoclastic metabolism of 25(OH)-vitamin D3: a potential mechanism for optimization of bone resorption | journal = Endocrinology | volume = 151 | issue = 10 | pages = 4613–25 | date = Oct 2010 | pmid = 20739402 | doi = 10.1210/en.2010-0334 }}</ref> The [[enzyme]] catalyzes the [[hydroxylation]] of  [[Calcifediol]] to [[calcitriol]] (the bioactive form of [[Vitamin D]]):<ref name="pmid4404596">{{cite journal | vauthors = Gray RW, Omdahl JL, Ghazarian JG, DeLuca HF | title = 25-Hydroxycholecalciferol-1-hydroxylase. Subcellular location and properties | journal = The Journal of Biological Chemistry | volume = 247 | issue = 23 | pages = 7528–32 | date = Dec 1972 | pmid = 4404596 | doi =  }}</ref>

:calcidiol + 2 reduced [[adrenodoxin reductase|adrenodoxin]] + 2 H<sup>+</sup> + O<sub>2</sub>  {{eqm}} calcitriol + 2 oxidized adrenodoxin + H<sub>2</sub>O

<gallery>
 Image:Calcidiol2.svg|[[Calcidiol]]
 Image:Calcitriol.svg |[[Calcitriol]]
</gallery>

{|
|{{enzyme
| Name = calcidiol 1-monooxygenase
| EC_number = 1.14.15.18
| CAS_number = 9081-36-1
| IUBMB_EC_number = 1/14/13/13
| GO_code = 0004498
| image =
| width =
| caption =
}}
|}

==Interactive pathway map==
{{VitaminDSynthesis_WP1531|highlight=25-Hydroxyvitamin_D3_1-alpha-hydroxylase}}

== References ==
{{reflist}}

== Further reading ==
{{refbegin | 2}}
* {{cite journal | vauthors = Carr EJ, Niederer HA, Williams J, Harper L, Watts RA, Lyons PA, Smith KG | title = Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis | journal = BMC Medical Genetics | volume = 10 | pages = 121 | year = 2009 | pmid = 19951419 | doi = 10.1186/1471-2350-10-121 }}
* {{cite journal | vauthors = Alzahrani AS, Zou M, Baitei EY, Alshaikh OM, Al-Rijjal RA, Meyer BF, Shi Y | title = A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1 | journal = The Journal of Clinical Endocrinology and Metabolism | volume = 95 | issue = 9 | pages = 4176–83  | date = Sep 2010 | pmid = 20534770 | doi = 10.1210/jc.2009-2278 }}
* {{cite journal | vauthors = Lagishetty V, Chun RF, Liu NQ, Lisse TS, Adams JS, Hewison M | title = 1alpha-hydroxylase and innate immune responses to 25-hydroxyvitamin D in colonic cell lines | journal = The Journal of Steroid Biochemistry and Molecular Biology | volume = 121 | issue = 1-2 | pages = 228–33  | date = Jul 2010 | pmid = 20152900 | pmc = 2891066 | doi = 10.1016/j.jsbmb.2010.02.004 }}
* {{cite journal | vauthors = Giroux S, Elfassihi L, Clément V, Bussières J, Bureau A, Cole DE, Rousseau F | title = High-density polymorphisms analysis of 23 candidate genes for association with bone mineral density | journal = Bone | volume = 47 | issue = 5 | pages = 975–81  | date = Nov 2010 | pmid = 20654748 | doi = 10.1016/j.bone.2010.06.030 }}
* {{cite journal | vauthors = Zhou S, LeBoff MS, Glowacki J | title = Vitamin D metabolism and action in human bone marrow stromal cells | journal = Endocrinology | volume = 151 | issue = 1 | pages = 14–22  | date = Jan 2010 | pmid = 19966181 | pmc = 2803155 | doi = 10.1210/en.2009-0969 }}
* {{cite journal | vauthors = Payne AH, Hales DB | title = Overview of steroidogenic enzymes in the pathway from cholesterol to active steroid hormones | journal = Endocrine Reviews | volume = 25 | issue = 6 | pages = 947–70  | date = Dec 2004 | pmid = 15583024 | doi = 10.1210/er.2003-0030 }}
* {{cite journal | vauthors = Maver A, Medica I, Salobir B, Tercelj M, Peterlin B | title = Lack of association of immune-response-gene polymorphisms with susceptibility to sarcoidosis in Slovenian patients | journal = Genetics and Molecular Research | volume = 9 | issue = 1 | pages = 58–68 | year = 2010 | pmid = 20082271 | doi = 10.4238/vol9-1gmr682 }}
* {{cite journal | vauthors = 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 | title = Association of the vitamin D metabolism gene CYP24A1 with coronary artery calcification | journal = Arteriosclerosis, Thrombosis, and Vascular Biology | volume = 30 | issue = 12 | pages = 2648–54  | date = Dec 2010 | pmid = 20847308 | pmc = 2988112 | doi = 10.1161/ATVBAHA.110.211805 }}
* {{cite journal | vauthors = Sundqvist E, Bäärnhielm M, Alfredsson L, Hillert J, Olsson T, Kockum I | title = Confirmation of association between multiple sclerosis and CYP27B1 | journal = European Journal of Human Genetics | volume = 18 | issue = 12 | pages = 1349–52  | date = Dec 2010 | pmid = 20648053 | pmc = 3002863 | doi = 10.1038/ejhg.2010.113 }}
* {{cite journal | vauthors = Fichna M, Zurawek M, Januszkiewicz-Lewandowska D, Gryczyñska M, Fichna P, Sowiñski J, Nowak J | title = Association of the CYP27B1 C(-1260)A polymorphism with autoimmune Addison's disease | journal = Experimental and Clinical Endocrinology & Diabetes | volume = 118 | issue = 8 | pages = 544–9  | date = Aug 2010 | pmid = 19998245 | doi = 10.1055/s-0029-1241206 }}
* {{cite journal | vauthors = Holt SK, Kwon EM, Koopmeiners JS, Lin DW, Feng Z, Ostrander EA, Peters U, Stanford JL | title = Vitamin D pathway gene variants and prostate cancer prognosis | journal = The Prostate | volume = 70 | issue = 13 | pages = 1448–60  | date = Sep 2010 | pmid = 20687218 | pmc = 2927712 | doi = 10.1002/pros.21180 }}
* {{cite journal | vauthors = Bu FX, Armas L, Lappe J, Zhou Y, Gao G, Wang HW, Recker R, Zhao LJ | title = Comprehensive association analysis of nine candidate genes with serum 25-hydroxy vitamin D levels among healthy Caucasian subjects | journal = Human Genetics | volume = 128 | issue = 5 | pages = 549–56  | date = Nov 2010 | pmid = 20809279 | doi = 10.1007/s00439-010-0881-9 }}
* {{cite journal | vauthors = Fichna M, Zurawek M, Januszkiewicz-Lewandowska D, Fichna P, Nowak J | title = PTPN22, PDCD1 and CYP27B1 polymorphisms and susceptibility to type 1 diabetes in Polish patients | journal = International Journal of Immunogenetics | volume = 37 | issue = 5 | pages = 367–72  | date = Oct 2010 | pmid = 20518841 | doi = 10.1111/j.1744-313X.2010.00935.x }}
* {{cite journal | vauthors = Wjst M, Heimbeck I, Kutschke D, Pukelsheim K | title = Epigenetic regulation of vitamin D converting enzymes | journal = The Journal of Steroid Biochemistry and Molecular Biology | volume = 121 | issue = 1-2 | pages = 80–3  | date = Jul 2010 | pmid = 20304056 | doi = 10.1016/j.jsbmb.2010.03.056 }}
* {{cite journal | vauthors = Liu CY, Wu MC, Chen F, Ter-Minassian M, Asomaning K, Zhai R, Wang Z, Su L, Heist RS, [[Matthew Kulke|Kulke MH]], Lin X, Liu G, Christiani DC | title = A Large-scale genetic association study of esophageal adenocarcinoma risk | journal = Carcinogenesis | volume = 31 | issue = 7 | pages = 1259–63  | date = Jul 2010 | pmid = 20453000 | pmc = 2893800 | doi = 10.1093/carcin/bgq092 }}
* {{cite journal | vauthors = Sunyer J, Basagaña X, González JR, Júlvez J, Guerra S, Bustamante M, de Cid R, Antó JM, Torrent M | title = Early life environment, neurodevelopment and the interrelation with atopy | journal = Environmental Research | volume = 110 | issue = 7 | pages = 733–8  | date = Oct 2010 | pmid = 20701904 | doi = 10.1016/j.envres.2010.07.005 }}
* {{cite journal | vauthors = Simon KC, Munger KL, Ascherio A | title = Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis | journal = Multiple Sclerosis (Houndmills, Basingstoke, England) | volume = 16 | issue = 2 | pages = 133–8  | date = Feb 2010 | pmid = 20007432 | pmc = 2819633 | doi = 10.1177/1352458509355069 }}
* {{cite journal | vauthors = 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 | title = Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression | journal = PLOS ONE | volume = 5 | issue = 9 | pages = e12862 | year = 2010 | pmid = 20877624 | pmc = 2943476 | doi = 10.1371/journal.pone.0012862 | editor1-last = Badger | editor1-first = Jonathan H. }}
* {{cite journal | vauthors = Dusso AS, Brown AJ, Slatopolsky E | title = Vitamin D | journal = American Journal of Physiology. Renal Physiology | volume = 289 | issue = 1 | pages = F8–28  | date = Jul 2005 | pmid = 15951480 | doi = 10.1152/ajprenal.00336.2004 }}
* {{cite journal | vauthors = Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S | title = Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study | journal = Diabetes Care | volume = 33 | issue = 10 | pages = 2250–3  | date = Oct 2010 | pmid = 20628086 | pmc = 2945168 | doi = 10.2337/dc10-0452 }}
{{refend}}

== External links ==
* {{MeshName|25-Hydroxyvitamin+D3+1-alpha-Hydroxylase}}
* {{UCSC gene info|CYP27B1}}
* {{UCSC gene info|VDR}}

{{Cytochrome P450}}
{{Metabolism of vitamins, coenzymes, and cofactors}}
{{Dioxygenases}}
{{Enzymes}}
{{Portal bar|Molecular and Cellular Biology|border=no}}

{{DEFAULTSORT:25-Hydroxyvitamin D3 1-Alpha-Hydroxylase}}
[[Category:EC 1.14.13]]
[[Category:NADPH-dependent enzymes]]
[[Category:Human proteins]]