CYP27B1


Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
cytochrome P450 family 27 subfamily B member 1MIM:609506Ensembl:ENSG00000111012HGNC:HGNC:2606PA2709912q14.1

GO terms in CYP27B1


Term TypeEvidence TypeGO Term IDGO Des.
CCIDAGO:0005737cytoplasm
CCISSGO:0005739mitochondrion
CCTASGO:0005739mitochondrion
CCTASGO:0005741mitochondrial outer membrane
BPTASGO:0006766vitamin metabolic process
BPISSGO:0006816calcium ion transport
BPIDAGO:0008285negative regulation of cell proliferation
BPIDAGO:0010956negative regulation of calcidiol 1-monooxygenase activity
BPIDAGO:0010980positive regulation of vitamin D 24-hydroxylase activity
BPIEPGO:0030282bone mineralization
BPIMPGO:0030308negative regulation of cell growth
BPIMPGO:0030500regulation of bone mineralization
BPIDAGO:0032496response to lipopolysaccharide
BPIDAGO:0033280response to vitamin D
BPIDAGO:0034341response to interferon-gamma
BPIDAGO:0036378calcitriol biosynthetic process from calciol
BPIDAGO:0042359vitamin D metabolic process
BPTASGO:0042359vitamin D metabolic process
BPIEAGO:0042369vitamin D catabolic process
BPIEPGO:0043627response to estrogen
BPIMPGO:0045618positive regulation of keratinocyte differentiation
BPIEPGO:0046697decidualization
BPIMPGO:0055074calcium ion homeostasis
BPIEAGO:0055114oxidation-reduction process
BPIMPGO:0070314G1 to G0 transition
BPIDAGO:0070564positive regulation of vitamin D receptor signaling pathway
MFIDAGO:0004498calcidiol 1-monooxygenase activity
MFTASGO:0004498calcidiol 1-monooxygenase activity
MFIEAGO:0005506iron ion binding
MFIEAGO:0020037heme binding

Gene expression in normal tissue: CYP27B1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in CYP27B1


DatabasePathway IDPathway Des.
wikipathwaysWP1531Vitamin D Metabolism
wikipathwaysWP2877Vitamin D Receptor Pathway
wikipathwaysWP299Nuclear Receptors in Lipid Metabolism and Toxicity
wikipathwaysWP43Oxidation by Cytochrome P450
wikipathwaysWP702Metapathway biotransformation Phase I and II
humancycPWY-6076vitamin D3 biosynthesis
kegghsa00100Steroid biosynthesis - Homo sapiens (human)
kegghsa05152Tuberculosis - Homo sapiens (human)
reactomeR-HSA-1430728Metabolism
reactomeR-HSA-1643685Disease
reactomeR-HSA-196791Vitamin D (calciferol) metabolism
reactomeR-HSA-211859Biological oxidations
reactomeR-HSA-211897Cytochrome P450 - arranged by substrate type
reactomeR-HSA-211916Vitamins
reactomeR-HSA-211945Phase I - Functionalization of compounds
reactomeR-HSA-556833Metabolism of lipids
reactomeR-HSA-5579014Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A)
reactomeR-HSA-5579029Metabolic disorders of biological oxidation enzymes
reactomeR-HSA-5668914Diseases of metabolism
reactomeR-HSA-8957322Metabolism of steroids

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD82Quiflapon3
iGMDRD300Tozasertib2
iGMDRD562Navitoclax5
iGMDRD366PI-1031
iGMDRD577BIX012944
iGMDRD329Merck609
iGMDRD872BRD71372
iGMDRD188Piperlongumine2
iGMDRD871BRD63684
iGMDRD434BMS-5369243
iGMDRD255SB2250022
iGMDRD202Curcumin6
iGMDRD137Indisulam5
iGMDRD634SCHEMBL26080411
iGMDRD280CYTOCHALASIN B2
iGMDRD237ABT-7511
iGMDRD201SKI II3
iGMDRD446LY 21832401
iGMDRD781Sirolimus2
iGMDRD345Compound 10b [PMID: 11504634]3
iGMDRD116CD4372
iGMDRD387CHIR-990213

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CYP27B1

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