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CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000785 Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

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Gene Symbol CYP27B1
Entrez Gene ID 1594
Full Name cytochrome P450, family 27, subfamily B, polypeptide 1
Synonyms CP2B, CYP1, CYP1alpha, CYP27B, P450c1, PDDR, VDD1, VDDR, VDDRI, VDR
General protein information
Preferred Names
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
Names
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
1alpha(OH)ase
VD3 1A hydroxylase
cytochrome p450 27B1
cytochrome P450C1 alpha
cytochrome P450VD1-alpha
calcidiol 1-monooxygenase
25-OHD-1 alpha-hydroxylase
25 hydroxyvitamin D3-1-alpha hydroxylase
cytochrome P450 subfamily XXVIIB polypeptide 1
NP_000776.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

12

12q14.1

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].
Disorder

MIM: 609506

Vitamin D-dependent rickets, type I, 264700 (3)

mRNA Protein Product Sequence Price Select
NM_000785, 74099700 NP_000776, 4503213 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ORF Sequence $550.00
KEGG
hsa00100Steroid biosynthesis
hsa05152Tuberculosis
hsa_M00103Cholecalciferol biosynthesis
WikiPathways
WP1531Vitamin D synthesis
WP43cytochrome P450
WP702metapathway biotransformation
WP299Nuclear receptors in lipid metabolism and toxicity
BIOCYC
HUMAN_PWY-60761,25-dihydroxyvitamin D3 biosynthesis
Reactome
REACT_13433Biological oxidations
REACT_13567Cytochrome P450 - arranged by substrate type
REACT_13450Vitamins
REACT_13705Phase 1 - Functionalization of compounds
REACT_11057Metabolism of steroid hormones and vitamin D
REACT_13523Vitamin D (calciferol) metabolism
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
Homo sapiens (human)CYP27B1NP_000776.1
Pan troglodytes (chimpanzee)CYP27B1XP_509175.2
Macaca mulatta (Rhesus monkey)CYP27B1XP_001116450.1
Canis lupus familiaris (dog)CYP27B1XP_538254.3
Bos taurus (cattle)CYP27B1NP_001179213.1
Mus musculus (house mouse)Cyp27b1NP_034139.2
Rattus norvegicus (Norway rat)Cyp27b1NP_446215.1
Danio rerio (zebrafish)LOC793309XP_003199448.2
Xenopus (Silurana) tropicalis (western clawed frog)cyp27b1NP_001006907.1
Process
IDNameEvidence
GO:0006766vitamin metabolic processTAS
GO:0006805xenobiotic metabolic processTAS
GO:0006816calcium ion transportISS
GO:0008202steroid metabolic processTAS
GO:0008285negative regulation of cell proliferationIDA
GO:0010956negative regulation of calcidiol 1-monooxygenase activityIDA
GO:0010980positive regulation of vitamin D 24-hydroxylase activityIDA
GO:0030282bone mineralizationIEP
GO:0030308negative regulation of cell growthIMP
GO:0030500regulation of bone mineralizationIMP
GO:0032496response to lipopolysaccharideIDA
GO:0033280response to vitamin DIDA
GO:0034341response to interferon-gammaIDA
GO:0036378calcitriol biosynthetic process from calciolIDA
GO:0042359vitamin D metabolic processIDA
GO:0042359vitamin D metabolic processTAS
GO:0042369vitamin D catabolic processIEA
GO:0043627response to estrogenIEP
GO:0044281small molecule metabolic processTAS
GO:0045618positive regulation of keratinocyte differentiationIMP
GO:0046697decidualizationIEP
GO:0055074calcium ion homeostasisIMP
GO:0055114oxidation-reduction processIEA
GO:0070314G1 to G0 transitionIMP
GO:0070564positive regulation of vitamin D receptor signaling pathwayIDA
Component
IDNameEvidence
GO:0005737cytoplasmIDA
GO:0005739mitochondrionISS
GO:0005739mitochondrionTAS
GO:0005741mitochondrial outer membraneTAS
Function
IDNameEvidence
GO:0004498calcidiol 1-monooxygenase activityIDA
GO:0005506iron ion bindingIEA
GO:0020037heme bindingIEA
GeneCards CYP27B1
UniProt O15528
Vega OTTHUMG00000170457
MIM 609506
Ensembl ENSG00000111012
HGNC 2606
HPRD 02031

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the CYP27B1 gene?

The CYP27B1 gene provides instructions for making an enzyme called 1-alpha-hydroxylase (1α-hydroxylase). This enzyme carries out the final reaction to convert vitamin D to its active form, 1,25-dihydroxyvitamin D3, also known as calcitriol. Vitamin D can be acquired from foods in the diet or can be made in the body with the help of sunlight. When active, this vitamin is involved in maintaining the proper balance of several minerals in the body, including calcium and phosphate, which are essential for the normal formation of bones and teeth. One of vitamin D's major roles is to control the absorption of calcium and phosphate from the intestines into the bloodstream. Vitamin D is also involved in several process unrelated to bone formation.

In order to carry out the roles of vitamin D, calcitriol attaches (binds) to another protein known as vitamin D receptor (VDR). The resulting calcitriol-VDR complex then binds to particular regions of DNA, known as vitamin D response elements, and regulates the activity of vitamin D-responsive genes. By turning the genes on or off, VDR helps control calcium and phosphate absorption and other processes.

Interactant

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