CYP27B1

25-羥基維生素D3 1-α-羥化酶
識別號
别名	CYP27B1；, CP2B, CYP1, CYP1alpha, CYP27B, P450c1, PDDR, VDD1, VDDR, VDDRI, VDR, cytochrome P450 family 27 subfamily B member 1
外部ID	OMIM：609506 MGI：1098274 HomoloGene：37139 GeneCards：CYP27B1
EC number	1.14.15.18
相關疾病
	1-alpha-hydroxylase deficiency[1]
基因位置（人类）
染色体	12號染色體[2]
终止	57,768,986 bp[2]
基因位置（小鼠）
染色体	小鼠10号染色体[3]
终止	126,888,875 bp[3]
基因本體
分子功能	• iron ion binding; • 金屬離子結合; • monooxygenase activity; • heme binding; • oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen; • oxidoreductase activity; • calcidiol 1-monooxygenase activity;
細胞組分	• 細胞質; • 膜; • mitochondrial membranes; • mitochondrial outer membrane; • 線粒體;
生物學過程	• bone mineralization; • response to vitamin D; • calcium ion homeostasis; • response to interferon-gamma; • vitamin D metabolic process; • regulation of bone mineralization; • positive regulation of keratinocyte differentiation; • G1 to G0 transition; • response to estrogen; • response to lipopolysaccharide; • negative regulation of calcidiol 1-monooxygenase activity; • 蛻膜化; • vitamin metabolic process; • negative regulation of cell growth; • calcitriol biosynthetic process from calciol; • positive regulation of vitamin D 24-hydroxylase activity; • vitamin D catabolic process; • positive regulation of vitamin D receptor signaling pathway; • calcium ion transport; • negative regulation of cell population proliferation;
	Sources:Amigo / QuickGO
直系同源
	1594
	13115
	ENSG00000111012
	ENSMUSG00000006724
	O15528
	O35084
	NM_000785
	NM_010009
	NP_000776
	NP_034139
	維基數據

calcidiol 1-monooxygenase
命名
系统命名
缩写
识别码
EC編號	1.14.15.18
CAS号	9081-36-1
数据库
IntEnz	IntEnz浏览
BRENDA	BRENDA入口
ExPASy	NiceZyme浏览
KEGG	KEGG入口
MetaCyc	代谢路径
PRIAM	概述
PDB	RCSB PDB PDBj PDBe PDBsum
基因本体	AmiGO / EGO
搜索
PMC	相关文献
PubMed	相关文献

细胞色素 P450 27B1（英語：，缩写CYP27B1）也被称为25-羟基维生素 D3 1-α-羟化酶（，EC 1.14.15.18），是细胞色素P450超家族的一员，由CYP27B1基因编码，定位于线粒体内膜[6][7][8]，在许多组织细胞中表达，如腎的近曲小管、皮肤角质形成细胞、免疫细胞[9]、成骨细胞等[10]，催化骨化二醇羟基化生成骨化三醇（维生素D的活性形式）[11]：

骨化二醇 + 2 还原型 Adx + 2 H⁺ + O₂ ⇌ 骨化三醇 + 2 氧化型 Adx + H₂O

骨化二醇
骨化三醇

参考文献

.
GRCh38: Ensembl release 89: ENSG00000111012 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000006724 - Ensembl, May 2017
. National Center for Biotechnology Information, U.S. National Library of Medicine.
. National Center for Biotechnology Information, U.S. National Library of Medicine.
. （原始内容存档于2009-05-11）.
Takeyama K, Kitanaka S, Sato T, Kobori M, Yanagisawa J, Kato S. . Science. Sep 1997, 277 (5333): 1827–30. PMID 9295274. doi:10.1126/science.277.5333.1827.
Monkawa T, Yoshida T, Wakino S, Shinki T, Anazawa H, Deluca HF, Suda T, Hayashi M, Saruta T. . Biochemical and Biophysical Research Communications. Oct 1997, 239 (2): 527–33. PMID 9344864. doi:10.1006/bbrc.1997.7508.
Sigmundsdottir H, Pan J, Debes GF, Alt C, Habtezion A, Soler D, Butcher EC. (PDF). Nature Immunology. Mar 2007, 8 (3): 285–93 [2020-04-30]. PMID 17259988. doi:10.1038/ni1433. （原始内容 (PDF)存档于2020-03-19）.
Kogawa M, Findlay DM, Anderson PH, Ormsby R, Vincent C, Morris HA, Atkins GJ. . Endocrinology. Oct 2010, 151 (10): 4613–25. PMID 20739402. doi:10.1210/en.2010-0334 .
Gray RW, Omdahl JL, Ghazarian JG, DeLuca HF. . The Journal of Biological Chemistry. Dec 1972, 247 (23): 7528–32. PMID 4404596. doi:10.1016/S0021-9258(19)44557-2.

外部链接

GeneReviews/NCBI/NIH/UW entry on Cerebrotendinous Xanthomatosis（页面存档备份，存于）
醫學主題詞表（MeSH）：Cytochrome+P-450+CYP27A1
Human CYP27A1 genome location and CYP27A1 gene details page in the UCSC Genome Browser.

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[1] .

[refGRCh38Ensembl-2] GRCh38: Ensembl release 89: ENSG00000111012 - Ensembl, May 2017

[refGRCm38Ensembl-3] GRCm38: Ensembl release 89: ENSMUSG00000006724 - Ensembl, May 2017

[4] . National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] . National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-6] . （原始内容存档于2009-05-11）.

[pmid9295274-7] Takeyama K, Kitanaka S, Sato T, Kobori M, Yanagisawa J, Kato S. . Science. Sep 1997, 277 (5333): 1827–30. PMID 9295274. doi:10.1126/science.277.5333.1827.

[pmid9344864-8] Monkawa T, Yoshida T, Wakino S, Shinki T, Anazawa H, Deluca HF, Suda T, Hayashi M, Saruta T. . Biochemical and Biophysical Research Communications. Oct 1997, 239 (2): 527–33. PMID 9344864. doi:10.1006/bbrc.1997.7508.

[pmid17259988-9] Sigmundsdottir H, Pan J, Debes GF, Alt C, Habtezion A, Soler D, Butcher EC. (PDF). Nature Immunology. Mar 2007, 8 (3): 285–93 [2020-04-30]. PMID 17259988. doi:10.1038/ni1433. （原始内容 (PDF)存档于2020-03-19）.

[pmid20739402-10] Kogawa M, Findlay DM, Anderson PH, Ormsby R, Vincent C, Morris HA, Atkins GJ. . Endocrinology. Oct 2010, 151 (10): 4613–25. PMID 20739402. doi:10.1210/en.2010-0334 .

[pmid4404596-11] Gray RW, Omdahl JL, Ghazarian JG, DeLuca HF. . The Journal of Biological Chemistry. Dec 1972, 247 (23): 7528–32. PMID 4404596. doi:10.1016/S0021-9258(19)44557-2.