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CYP39A1
Gene Name
cytochrome P450, family 39, subfamily A, polypeptide 1
Image
No pdb structure
Gene Ontology Annotations
Cellular Component
Endoplasmic Reticulum Membrane
Intracellular Membrane-bounded Organelle
Molecular Function
Iron Ion Binding
Steroid 7-alpha-hydroxylase Activity
Oxysterol 7-alpha-hydroxylase Activity
Heme Binding
24-hydroxycholesterol 7alpha-hydroxylase Activity
Biological Process
Bile Acid Biosynthetic Process
Cholesterol Catabolic Process
Xenobiotic Metabolic Process
Digestion
Bile Acid Metabolic Process
Sterol Metabolic Process
Bile Acid Catabolic Process
Small Molecule Metabolic Process
Oxidation-reduction Process
Pathways
Bile acid and bile salt metabolism
Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B)
Metabolism of lipids and lipoproteins
Metabolic disorders of biological oxidation enzymes
Phase 1 - Functionalization of compounds
Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A)
Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4)
Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56)
Cytochrome P450 - arranged by substrate type
Endogenous sterols
Biological oxidations
Synthesis of bile acids and bile salts
Synthesis of bile acids and bile salts via 24-hydroxycholesterol
Defective FMO3 causes Trimethylaminuria (TMAU)
Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD)
Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)
Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX)
Defective CYP11B1 causes Adrenal hyperplasia 4 (AH4)
Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)
Defective CYP1B1 causes Glaucoma
Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5)
Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3)
Defective CYP19A1 causes Aromatase excess syndrome (AEXS)
Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5)
Defective CYP24A1 causes Hypercalcemia, infantile (HCAI)
Defective MAOA causes Brunner syndrome (BRUNS)
Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency)
Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3)
Drugs
Diseases
GWAS
Protein-protein Interactions
4 interactors:
GLUL
ORM2
SERINC1
SMYD3
Entrez ID
51302
HPRD ID
07067
Ensembl ID
ENSG00000146233
Uniprot IDs
B7Z786
Q9NYL5
PDB IDs
Enriched GO Terms of Interacting Partners
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