| URN | urn:agi-llid:1594 |
|---|---|
| Connectivity | 74 |
| Name | CYP27B1 |
| Description | cytochrome P450, family 27, subfamily B, polypeptide 1 |
| Notes | 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] |
| Pathway | PPARA Targets |
|---|---|
| VDR Targets |
| Ariadne Ontology | Cholesterol/isoprenoid metabolism |
|---|
| GO Molecular Function | electron carrier activity |
|---|---|
| metal ion binding | |
| iron ion binding | |
| heme binding | |
| oxidoreductase activity | |
| monooxygenase activity | |
| calcidiol 1-monooxygenase activity |
| GO Cellular Component | membrane |
|---|---|
| mitochondrion | |
| mitochondrial membrane |
| GO Biological Process | vitamin biosynthetic process |
|---|---|
| vitamin D catabolic process | |
| calcium ion transport | |
| oxidation reduction | |
| lipid metabolic process | |
| response to vitamin D |
| Group | Cholesterol/isoprenoid metabolism |
|---|---|
| membrane | |
| mitochondrion | |
| mitochondrial membrane | |
| electron carrier activity | |
| metal ion binding | |
| iron ion binding | |
| heme binding | |
| oxidoreductase activity | |
| monooxygenase activity | |
| calcidiol 1-monooxygenase activity | |
| vitamin biosynthetic process | |
| vitamin D catabolic process | |
| calcium ion transport | |
| oxidation reduction | |
| lipid metabolic process | |
| response to vitamin D |
| Hugo ID | 2606 |
|---|
| Human chromosome position | 12q13.1-q13.3 |
|---|
| LocusLink ID | 1594 |
|---|---|
| 13115 |
| Alias | VDR |
|---|---|
| CP2B | |
| CYP1 | |
| PDDR | |
| VDD1 | |
| VDDR | |
| VDDRI | |
| CYP27B | |
| P450c1 | |
| CYP1alpha | |
| cytochrome P450, family 27, subfamily B, polypeptide 1 | |
| VDDR I | |
| P450C1-alpha | |
| 1alpha(OH)ase | |
| P450VD1-alpha | |
| VD3 1A hydroxylase | |
| calcidiol 1-monooxygenase | |
| 25-OHD-1 alpha-hydroxylase | |
| 25-Hydroxyvitamin D3 1alpha-hydroxylase | |
| 25-hydroxyvitamin D-1-alpha-hydroxylase | |
| 25 hydroxyvitamin D3-1-alpha hydroxylase | |
| cytochrome P450, subfamily XXVIIB, polypeptide 1 | |
| cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1 | |
| Cyp40 | |
| MGC91184 | |
| P450VD1alpha | |
| cytochrome P450, 27b1 | |
| 25(OH)D 1alpha-hydroxylase | |
| cytochrome P450, 40 (25-hydroxyvitamin D3 1 alpha-hydroxylase) | |
| 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial precursor (25-OHD-1 alpha-hydroxylase) (25-hydroxyvitamin D3 1-alpha-hydroxylase) (VD3 1A hydroxylase) (P450C1 alpha) (P450VD1-alpha) | |
| 25-hydroxyvitamin D-1 alpha hydroxylase | |
| cytochrome P450, family 27, subfamily B, polypeptide I | |
| cytochrome p450 40 | |
| 25-hydroxyvitamin D3 1-alpha- hydroxylase | |
| Cyp27b1 | |
| cytochrome P450, family 27, subfamily B, polypeptide | |
| cytochrome P450, subfamily XXVIIB | |
| cytochrome P450, subfamily XXVIIB, polypeptide I | |
| Cyp27b I | |
| P450c I | |
| VDD I | |
| cytochrome P450 subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase) polypeptide 1 | |
| LOC216437 | |
| pseudo-vitamin D dependency rickets 1 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus |
| OMIM ID | 609506 |
|---|---|
| 264700 |
| Swiss-Prot Accession | O15528 |
|---|---|
| Q548T3 | |
| Q8NI03 | |
| Q9UP42 | |
| O35084 | |
| Q66JY8 |
| Unigene ID | Hs.524528 |
|---|---|
| Mm.6216 |
| KEGG ID | hsa:1594 |
|---|---|
| mmu:13115 |
| EC Number | 1.14.13.13 |
|---|
| Swiss-Prot ID | CP27B_HUMAN |
|---|---|
| Q548T3_HUMAN | |
| Q66JY8_MOUSE |
| Cell Localization | Endoplasmic reticulum |
|---|
| GO ID | 0004498 |
|---|---|
| 0009055 | |
| 0020037 | |
| 0046872 | |
| 0004497 | |
| 0006816 | |
| 0006629 | |
| 0055114 | |
| 0009110 | |
| 0016020 | |
| 0031966 | |
| 0005739 | |
| 0005506 | |
| 0016491 | |
| 0033280 | |
| 0042369 |
| IPI ID | IPI00007313 |
|---|---|
| IPI00790984 | |
| IPI00789203 | |
| IPI00791871 | |
| IPI00126549 |
| Mouse chromosome position | 10 D3 |
|---|
| Homologene ID | 37139 |
|---|
| MGI ID | 1098274 |
|---|