CYP51A1

Gene Name		cytochrome P450, family 51, subfamily A, polypeptide 1
Image
Gene Ontology Annotations	Cellular Component	Endoplasmic Reticulum Endoplasmic Reticulum Membrane Membrane Integral Component Of Membrane
	Molecular Function	Iron Ion Binding Sterol 14-demethylase Activity Heme Binding
	Biological Process	Steroid Biosynthetic Process Cholesterol Biosynthetic Process Xenobiotic Metabolic Process Sterol Metabolic Process Cholesterol Biosynthetic Process Via 24,25-dihydrolanosterol Small Molecule Metabolic Process Oxidation-reduction Process Demethylation
Pathways		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) Regulation of cholesterol biosynthesis by SREBP (SREBF) 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 Cholesterol biosynthesis 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) Activation of gene expression by SREBF (SREBP) Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3)
Drugs		Tioconazole Itraconazole 1-[(2S)-2-[(4-CHLOROBENZYL)OXY]-2-(2,4-DICHLOROPHENYL)ETHYL]-1H-IMIDAZOLE
Diseases
GWAS
Protein-protein Interactions		1 interactors: ZNF420
Entrez ID		1595
HPRD ID		03381
Ensembl ID		ENSG00000001630
Uniprot IDs		Q16850
PDB IDs		3JUS 3JUV 3LD6
Enriched GO Terms of Interacting Partners?
Tagcloud ?		1h a431 bioinformatics bpa c4 cetuximab dimerization dramatic effectors egfr endocytic erbb3 eukaryotes extensively hypothesize identifies inactivation internalized ketoconazole nadp nsdhl rescued sc4mol sensitized sterol trafficking unexpected validate vesicular