CYP27B1 - cytochrome P450 family 27 subfamily B member 1 Gene
Also Known as VDR; CP2B; CYP1; PDDR; VDD1; VDDR; VDDRI; CYP27B; P450c1; CYP1alpha
Species: Homo sapiens
About CYP27B1
This gene has 7 transcripts (splice variants), 191 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 9.5), thyroid (RPKM 4.8) and 4 other tissues.
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]
CYP27B1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000785.4 | NP_000776.1 | 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables calcidiol 1-monooxygenase activity |
IDA
IDA: Inferred from direct assay
|
9415400 | GOA |
| enables secalciferol 1-monooxygenase activity |
IDA
IDA: Inferred from direct assay
|
10518789 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
15589699 | GOA |
CYP27B1 Protein Structure
p450: Cytochrome P450 (59 - 504)
- 0
- 100
- 200
- 300
- 400
- 508 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| 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 |
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| Vitamin D-Dependent Rickets, Type 2a |
|
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| Secondary Hyperparathyroidism |
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| Osteoporosis |
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| Hyperparathyroidism |
|
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| Hypocalcemia, Autosomal Dominant 1 |
|
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| Vitamin D Hydroxylation-Deficient Rickets, Type 1b |
|
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| Cerebrotendinous Xanthomatosis |
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| Xanthomatosis |
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| Primary Hyperparathyroidism |
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| Hypophosphatemic Rickets, X-Linked Recessive |
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| Graves' Disease |
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| Hypervitaminosis D |
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| Osteomalacia |
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| Phosphorus Metabolism Disease |
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| Hypophosphatemia |
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| Autoimmune Disease |
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| Chronic Kidney Disease |
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| Mineral Metabolism Disease |
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| Williams-Beuren Syndrome |
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| Actinic Keratosis |
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| Type 1 Diabetes Mellitus |
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| Hypoadrenocorticism, Familial |
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| Hypophosphatemic Rickets, Autosomal Dominant |
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| Parathyroid Gland Disease |
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| Hypophosphatemic Rickets, X-Linked Dominant |
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| Vitamin D-Dependent Rickets Type 2b |
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| Autosomal Recessive Hypophosphatemic Rickets |
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| Multiple Sclerosis |
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| Colorectal Cancer |
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| Hashimoto Thyroiditis |
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| Kidney Disease |
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| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
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| Dental Abscess |
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| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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| Metaphyseal Chondrodysplasia, Jansen Type |
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| Sarcoidosis 1 |
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| Tuberculous Epididymitis |
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| Bone Disease |
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| Prostate Cancer |
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| Diabetes Mellitus |
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| Bone Remodeling Disease |
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| Acute Promyelocytic Leukemia |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | CYP27B1 | VGNC | VGNC:110245 |
| Rattus norvegicus | CYP27B1 | RGD | RGD:69192 |
| Mus musculus | CYP27B1 | MGD | MGI:1098274 |
| Felis catus | CYP27B1 | VGNC | VGNC:103341 |
| Canis familiaris | CYP27B1 | VGNC | VGNC:50343 |
| Macaca mulatta | CYP27B1 | VGNC | VGNC:103625 |
| Others | CYP27B1 | NCBI |