CYP27A1

Gene Name		cytochrome P450, family 27, subfamily A, polypeptide 1
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Gene Ontology Annotations	Cellular Component	Mitochondrial Inner Membrane Mitochondrial Matrix
	Molecular Function	Iron Ion Binding Steroid Hydroxylase Activity Heme Binding Vitamin D3 25-hydroxylase Activity Cholesterol 26-hydroxylase Activity Cholestanetriol 26-monooxygenase Activity
	Biological Process	Bile Acid Biosynthetic Process Xenobiotic Metabolic Process Cholesterol Metabolic Process Bile Acid Metabolic Process Sterol Metabolic Process Calcitriol Biosynthetic Process From Calciol 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) Synthesis of bile acids and bile salts via 27-hydroxycholesterol Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol 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		1 interactors: PRDX4
Entrez ID		1593
HPRD ID		05939
Ensembl ID		ENSG00000135929
Uniprot IDs		Q02318
PDB IDs		1MFX
Enriched GO Terms of Interacting Partners?		Negative Regulation Of Male Germ Cell Proliferation Regulation Of Male Germ Cell Proliferation Protein Maturation By Protein Folding I-kappaB Phosphorylation 4-hydroxyproline Metabolic Process Protein Maturation I-kappaB Kinase/NF-kappaB Signaling Reactive Oxygen Species Metabolic Process Cell Redox Homeostasis Male Gonad Development Male Sex Differentiation Gonad Development Development Of Primary Sexual Characteristics Cellular Modified Amino Acid Metabolic Process Alpha-amino Acid Metabolic Process Protein Folding Sex Differentiation
Tagcloud ?		7alpha 7beta adaptive agonists cd4 coactivator corepressor defense dihydroxycholesterol driving elicit gammadelta generating knockout lbd ligands modulators naturally ohc orphan oxysterols preferentially producing profound rorgamma rorgammat th1 th17 ursolic