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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]
CYP27B1 (Cytochrome P450 Family 27 Subfamily B Member 1) is a Protein Coding gene. Diseases associated with CYP27B1 include Vitamin D Hydroxylation-Deficient Rickets, Type 1A and Hypocalcemic Vitamin D-Dependent Rickets. Among its related pathways are Cytochrome P450 - arranged by substrate type and Tuberculosis. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP27A1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004497 | monooxygenase activity | IEA | -- |
GO:0004498 | calcidiol 1-monooxygenase activity | TAS | -- |
GO:0005506 | iron ion binding | IEA | -- |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0016705 | oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IDA | 15589699 |
GO:0005739 | mitochondrion | TAS | 9333115 |
GO:0005741 | mitochondrial outer membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0031966 | mitochondrial membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytochrome P450 - arranged by substrate type |
.01
Vitamin D2 (ergocalciferol) metabolism
.01
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2 | Metabolism |
.40
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3 | Metabolism of fat-soluble vitamins | ||
4 | Parathyroid hormone synthesis, secretion and action | ||
5 | cholesterol biosynthesis III (via desmosterol) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006766 | vitamin metabolic process | TAS | -- |
GO:0006816 | calcium ion transport | IEA,ISS | -- |
GO:0008285 | negative regulation of cell proliferation | IDA | 16549446 |
GO:0010956 | negative regulation of calcidiol 1-monooxygenase activity | IDA | 16549446 |
GO:0010980 | positive regulation of vitamin D 24-hydroxylase activity | IDA | 16549446 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Alfacalcidol | Approved | Nutra | Target | Bone resorption inhibitor | 57 | |
Calcifediol | Approved | Nutra | Enzyme, substrate | Major circulating form of vitamin D3 | 150 | |
Ergocalciferol | Approved | Nutra | Enzyme, substrate | 415 | ||
Vitamin D | Approved, Vet_approved | Nutra | Enzyme, substrate | 2168 | ||
Oxygen | Approved, Vet_approved | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Hydrogen Ion |
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ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CYP27B1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CYP27B1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CYP27B1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cyp27b1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cyp27b1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CYP27B1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | CYP27B1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cyp27b1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC793309 30 |
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||
CYP27B1 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Cyp49a1 32 |
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Cyp12e1 32 |
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Cyp301a1 32 |
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dib 32 |
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Cyp12c1 32 |
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Cyp12d1 32 |
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sad 31 |
|
OneToMany | |||
Cyp12a4 32 |
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Cyp12a5 32 |
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Cyp12b2 32 |
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Worm (Caenorhabditis elegans) |
Secernentea | ccp-44 32 |
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SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
1671 | Pathogenic: Vitamin D-dependent rickets, type 1 | 57,766,006(-) | C/T | SPLICE_DONOR_VARIANT | |
711097 | Likely Benign: not provided | 57,766,940(-) | G/C | SYNONYMOUS_VARIANT | |
722611 | Likely Benign: not provided | 57,766,008(-) | C/T | MISSENSE_VARIANT | |
723672 | Likely Benign: not provided | 57,766,988(-) | C/T | SYNONYMOUS_VARIANT | |
732797 | Likely Benign: not provided | 57,763,261(-) | A/G | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
vitamin d hydroxylation-deficient rickets, type 1a |
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hypocalcemic vitamin d-dependent rickets |
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rickets |
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vitamin d-dependent rickets, type 2a |
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secondary hyperparathyroidism |
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