Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
1.14.14.26
Oxidoreductases;
Acting on paired donors, with incorporation or reduction of molecular oxygen;
With reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen into the other donor;
24-hydroxycholesterol 7α-hydroxylase
1.14.14.29
Oxidoreductases;
Acting on paired donors, with incorporation or reduction of molecular oxygen;
With reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen into the other donor;
25/26-hydroxycholesterol 7α-hydroxylase
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0035754 | B cell chemotaxis |
| Biological Process | GO:0006699 | bile acid biosynthetic process |
| Biological Process | GO:0042632 | cholesterol homeostasis |
| Biological Process | GO:0008203 | cholesterol metabolic process |
| Biological Process | GO:0050673 | epithelial cell proliferation |
| Biological Process | GO:0030520 | intracellular estrogen receptor signaling pathway |
| Biological Process | GO:0033147 | negative regulation of intracellular estrogen receptor signaling pathway |
| Biological Process | GO:0050679 | positive regulation of epithelial cell proliferation |
| Biological Process | GO:0060740 | prostate gland epithelium morphogenesis |
| Biological Process | GO:0016125 | sterol metabolic process |
| Molecular Function | GO:0033782 | 24-hydroxycholesterol 7alpha-hydroxylase activity |
| Molecular Function | GO:0033783 | 25-hydroxycholesterol 7alpha-hydroxylase activity |
| Molecular Function | GO:0047092 | 27-hydroxycholesterol 7-alpha-monooxygenase activity |
| Molecular Function | GO:0020037 | heme binding |
| Molecular Function | GO:0005506 | iron ion binding |
| Molecular Function | GO:0008396 | oxysterol 7-alpha-hydroxylase activity |
| Cellular Component | GO:0005789 | endoplasmic reticulum membrane |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-192105 | Synthesis of bile acids and bile salts | Internal node | R-HSA-1430728 | Metabolism |
| R-HSA-193368 | Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-193807 | Synthesis of bile acids and bile salts via 27-hydroxycholesterol | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-211976 | Endogenous sterols | Internal node | R-HSA-1430728 | Metabolism |
| R-HSA-5579013 | Defective CYP7B1 causes SPG5A and CBAS3 | Leaf | R-HSA-1643685 | Disease |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Endoplasmic reticulum membrane | ECO:0000305 | PubMed:9802883 |
| Microsome membrane | ECO:0000305 | PubMed:9802883 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000020 | Urinary incontinence |
| HP:0000079 | Abnormality of the urinary system |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000518 | Cataract |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0000952 | Jaundice |
| HP:0001258 | Spastic paraplegia |
| HP:0001260 | Dysarthria |
| HP:0001271 | Polyneuropathy |
| HP:0001317 | Abnormal cerebellum morphology |
| HP:0001347 | Hyperreflexia |
| HP:0001394 | Cirrhosis |
| HP:0001396 | Cholestasis |
| HP:0001399 | Hepatic failure |
| HP:0001406 | Intrahepatic cholestasis |
| HP:0001408 | Bile duct proliferation |
| HP:0001433 | Hepatosplenomegaly |
| HP:0001508 | Failure to thrive |
| HP:0001744 | Splenomegaly |
| HP:0001761 | Pes cavus |
| HP:0002014 | Diarrhea |
| HP:0002015 | Dysphagia |
| HP:0002061 | Lower limb spasticity |
| HP:0002064 | Spastic gait |
| HP:0002070 | Limb ataxia |
| HP:0002078 | Truncal ataxia |
| HP:0002166 | Impaired vibration sensation in the lower limbs |
| HP:0002174 | Postural tremor |
| HP:0002240 | Hepatomegaly |
| HP:0002406 | Limb dysmetria |
| HP:0002495 | Impaired vibratory sensation |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0002570 | Steatorrhea |
| HP:0002573 | Hematochezia |
| HP:0002630 | Fat malabsorption |
| HP:0002650 | Scoliosis |
| HP:0002904 | Hyperbilirubinemia |
| HP:0003107 | Abnormal circulating cholesterol concentration |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0003484 | Upper limb muscle weakness |
| HP:0003487 | Babinski sign |
| HP:0003596 | Middle age onset |
| HP:0003621 | Juvenile onset |
| HP:0003623 | Neonatal onset |
| HP:0003676 | Progressive |
| HP:0006827 | Atrophy of the spinal cord |
| HP:0006858 | Impaired distal proprioception |
| HP:0006986 | Upper limb spasticity |
| HP:0007210 | Lower limb amyotrophy |
| HP:0007340 | Lower limb muscle weakness |
| HP:0008151 | Prolonged prothrombin time |
| HP:0009129 | Upper limb amyotrophy |
| HP:0011448 | Ankle clonus |
| HP:0011462 | Young adult onset |
| HP:0011463 | Childhood onset |
| HP:0011985 | Acholic stools |
| HP:0012115 | Hepatitis |
| HP:0012852 | Hepatic bridging fibrosis |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI |
| HP:0031956 | Elevated circulating aspartate aminotransferase concentration |
| HP:0031964 | Elevated circulating alanine aminotransferase concentration |
| HP:0034294 | Ductal bile plugs |
| HP:0100508 | Abnormality of vitamin metabolism |
| HP:0100543 | Cognitive impairment |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| hereditary spastic paraplegia 5a | MONDO:0010047 | G11 | chapter6, Diseases of the nervous system | OMIM:270800 | Orphanet:100986 |
| congenital bile acid synthesis defect 3 | MONDO:0013439 | K76 | chapter11, Diseases of the digestive system | OMIM:613812 | Orphanet:79302 |