CYP26B1
Summary: This gene encodes a member of the cytochrome P450 superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| cytochrome P450 family 26 subfamily B member 1 | MIM:605207 | Ensembl:ENSG00000003137 | HGNC:HGNC:20581 | PA134879191 | 2p13.2 |
GO terms in CYP26B1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0001972 | retinoic acid binding |
| MF | IEA | GO:0005506 | iron ion binding |
| MF | IDA | GO:0008401 | retinoic acid 4-hydroxylase activity |
| MF | TAS | GO:0008401 | retinoic acid 4-hydroxylase activity |
| MF | IBA | GO:0016491 | oxidoreductase activity |
| MF | IDA | GO:0016709 | oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen |
| MF | NAS | GO:0020037 | heme binding |
| BP | ISS | GO:0001709 | cell fate determination |
| BP | IEA | GO:0001768 | establishment of T cell polarity |
| BP | TAS | GO:0006766 | vitamin metabolic process |
| BP | IDA | GO:0006805 | xenobiotic metabolic process |
| BP | IEA | GO:0006954 | inflammatory response |
| BP | ISS | GO:0007140 | male meiotic nuclear division |
| BP | ISS | GO:0007283 | spermatogenesis |
| BP | ISS | GO:0009954 | proximal/distal pattern formation |
| BP | IEA | GO:0010628 | positive regulation of gene expression |
| BP | IBA | GO:0016125 | sterol metabolic process |
| BP | ISS | GO:0030326 | embryonic limb morphogenesis |
| BP | IEA | GO:0033189 | response to vitamin A |
| BP | IDA | GO:0034653 | retinoic acid catabolic process |
| BP | IEA | GO:0043587 | tongue morphogenesis |
| BP | IEA | GO:0045580 | regulation of T cell differentiation |
| BP | IEA | GO:0048384 | retinoic acid receptor signaling pathway |
| BP | TAS | GO:0048387 | negative regulation of retinoic acid receptor signaling pathway |
| BP | IBA | GO:0055114 | oxidation-reduction process |
| BP | IDA | GO:0055114 | oxidation-reduction process |
| BP | IMP | GO:0060349 | bone morphogenesis |
| BP | IEA | GO:0061436 | establishment of skin barrier |
| BP | IEA | GO:0070268 | cornification |
| BP | IEA | GO:0071300 | cellular response to retinoic acid |
| BP | IEA | GO:2001037 | positive regulation of tongue muscle cell differentiation |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005789 | endoplasmic reticulum membrane |
| CC | IEA | GO:0031090 | organelle membrane |
Gene expression in normal tissue: CYP26B1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CYP26B1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-211859 | Biological oxidations |
| reactome | R-HSA-211897 | Cytochrome P450 - arranged by substrate type |
| reactome | R-HSA-211916 | Vitamins |
| reactome | R-HSA-211945 | Phase I - Functionalization of compounds |
| reactome | R-HSA-5362517 | Signaling by Retinoic Acid |
| reactome | R-HSA-5365859 | RA biosynthesis pathway |
| reactome | R-HSA-5579015 | Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) |
| reactome | R-HSA-5579029 | Metabolic disorders of biological oxidation enzymes |
| reactome | R-HSA-5668914 | Diseases of metabolism |
| reactome | R-HSA-9006931 | Signaling by Nuclear Receptors |
| kegg | hsa00830 | Retinol metabolism - Homo sapiens (human) |
| wikipathways | WP236 | Adipogenesis |
| wikipathways | WP43 | Oxidation by Cytochrome P450 |
| wikipathways | WP702 | Metapathway biotransformation Phase I and II |
| wikipathways | WP716 | Vitamin A and Carotenoid Metabolism |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CYP26B1
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