Search results:
General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| CYP27B1 | 1594 | cytochrome P450, family 27, subfamily B, polypeptide 1 | 12 | CYP1, P450c1 |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 26241700 | 2015 | Cell line : - Source : - Sample Type : - No. of Sample : - Stage : - | - | Polymorhpism | - | - |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | Cytochrome P450s |
| Description | 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] | Chromosome | 12 |
| Location | 12q14.1 |
| Start | 58156117 |
| End | 58160976 |
| Strand | - |
| Gene Sequence | Download Select all |
| Length | 4860 |
| OMIM ID | 609506 |
| HGNC ID | HGNC:2606 |
| Unigene ID | Hs.524528 |
| Ensembl ID | ENSG00000111012 |
| PharmGKB ID | PA27099 |
mRNA Information
| mRNA ID | NM_000785.3 |
|---|---|
| Exon | join(1..347,997..1187,1695..1897,1983..2183,2268..2440, 2644..2816,3018..3096,3386..3583,3939..4860) | mRNA Sequence | Download Select all |
| Length | 2503 |
Protein Information
| Protein ID | NP_000776.1 |
|---|---|
| Protein Name | cytochrome P450, family 27, subfamily B, polypeptide 1 |
| Molecular Wt. (Da) | 56373 |
| Protein Sequence | Download Select all |
| Length | 508 |
| Uniprot ID | O00459 |
| Ensembl Protein ID | ENSP00000222254 |
Post-translational Modification Information (Source : HPRD)
No matching records could be found.
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
No matching records from HPRD source could be found.
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Metabolic pathways | hsa01100 |
| Steroid biosynthesis | hsa00100 |
| Tuberculosis | hsa05152 |
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| pfam00067 | 41-505 | p450 |
| cl12078 | 41-505 | p450 superfamily |
| COG2124 | 39-505 | CypX |
| PTZ00404 | 306-483 | PTZ00404 |
| PLN02394 | 241-483 | PLN02394 |
| PLN02687 | 271-486 | PLN02687 |
| PLN02655 | 296-477 | PLN02655 |
| PLN00168 | 219-500 | PLN00168 |
| PLN03195 | 190-495 | PLN03195 |
| PLN00110 | 308-477 | PLN00110 |
| PLN02183 | 258-486 | PLN02183 |
| PLN02966 | 298-486 | PLN02966 |
| PLN03234 | 282-486 | PLN03234 |
| PLN03112 | 311-494 | PLN03112 |
| PLN02302 | 315-492 | PLN02302 |
| PLN02426 | 311-486 | PLN02426 |
| PLN02169 | 311-479 | PLN02169 |
| PLN02987 | 269-493 | PLN02987 |
| PLN02971 | 302-476 | PLN02971 |
| PLN02290 | 304-476 | PLN02290 |
| PLN02936 | 299-483 | PLN02936 |
| PLN02196 | 299-476 | PLN02196 |
| TIGR04538 | 283-473 | P450_cycloAA_1 |
| PLN03018 | 300-487 | PLN03018 |
| PLN02774 | 299-476 | PLN02774 |
| PLN02500 | 263-476 | PLN02500 |
| PLN03141 | 259-476 | PLN03141 |
| PLN02648 | 337-436 | PLN02648 |
| TIGR04458 | 389-505 | CYP450_TxtE |
| PLN02738 | 258-491 | PLN02738 |
| TIGR04515 | 298-471 | P450_rel_GT_act |
Ontology Information
| HPRD ID | 2219 |
|---|---|
| Molecular Class | Enzyme: Hydroxylase |
| Molecular Function | Isomerase activity (GO:0016853) |
| Biological Process | Metabolism (GO:0008152); Energy pathways (GO:0006091) |
Drug Information
| Uniprot ID | DrugBank ID | Name | Type |
|---|---|---|---|
| O15528 | DB00146 | Calcidiol | SmallMoleculeDrug |
| O15528 | DB00153 | Ergocalciferol | SmallMoleculeDrug |
| O15528 | DB01285 | Corticotropin | BiotechDrug |
| O15528 | DB01436 | Alfacalcidol | SmallMoleculeDrug |