MGP Database

MGP000767

Ontology/Pathway Information

Entrez Gene ID	1583
Gene Name	cytochrome P450, family 11, subfamily A, polypeptide 1
Gene Symbol	CYP11A1
Species	Homo sapiens

Gene Ontology (GO Annotations)

GO ID	Source	Type	Description
GO:0030061	IEA:Ensembl	C	mitochondrial crista
GO:0005759	TAS:Reactome	C	mitochondrial matrix
GO:0005739	ISS:UniProtKB	C	mitochondrion
GO:0043204	IEA:Ensembl	C	perikaryon
GO:0015485	IEA:Ensembl	F	cholesterol binding
GO:0008386	IDA:UniProtKB	F	cholesterol monooxygenase (side-chain-cleaving) activity
GO:0020037	IDA:UniProtKB	F	heme binding
GO:0005506	IEA:InterPro	F	iron ion binding
GO:0018879	IEA:Ensembl	P	biphenyl metabolic process
GO:0006700	IDA:UniProtKB	P	C21-steroid hormone biosynthetic process
GO:0071236	IEA:Ensembl	P	cellular response to antibiotic
GO:0071276	IEA:Ensembl	P	cellular response to cadmium ion
GO:0071320	IEA:Ensembl	P	cellular response to cAMP
GO:0044344	IEA:Ensembl	P	cellular response to fibroblast growth factor stimulus
GO:0071372	IEA:Ensembl	P	cellular response to follicle-stimulating hormone stimulus
GO:0071347	IEA:Ensembl	P	cellular response to interleukin-1
GO:0071222	IEA:Ensembl	P	cellular response to lipopolysaccharide
GO:0071375	IEA:Ensembl	P	cellular response to peptide hormone stimulus
GO:0071560	IEA:Ensembl	P	cellular response to transforming growth factor beta stimulus
GO:0071356	IEA:Ensembl	P	cellular response to tumor necrosis factor
GO:0021549	IEA:Ensembl	P	cerebellum development
GO:0008203	IDA:UniProtKB	P	cholesterol metabolic process
GO:0018894	IEA:Ensembl	P	dibenzo-p-dioxin metabolic process
GO:0006703	IEA:Ensembl	P	estrogen biosynthetic process
GO:0050756	IEA:Ensembl	P	fractalkine metabolic process
GO:0060014	IEA:Ensembl	P	granulosa cell differentiation
GO:0021766	IEA:Ensembl	P	hippocampus development
GO:0033327	IEA:Ensembl	P	Leydig cell differentiation
GO:0060135	IEA:Ensembl	P	maternal process involved in female pregnancy
GO:0007617	IEA:Ensembl	P	mating behavior
GO:0018958	IEA:Ensembl	P	phenol-containing compound metabolic process
GO:0018963	IEA:Ensembl	P	phthalate metabolic process
GO:0006701	IEA:Ensembl	P	progesterone biosynthetic process
GO:0043279	IEA:Ensembl	P	response to alkaloid
GO:0051412	IEA:Ensembl	P	response to corticosterone
GO:0042493	IEA:Ensembl	P	response to drug
GO:0060992	IEA:Ensembl	P	response to fungicide
GO:0010332	IEA:Ensembl	P	response to gamma radiation
GO:0033595	IEA:Ensembl	P	response to genistein
GO:0042542	IEA:Ensembl	P	response to hydrogen peroxide
GO:0017085	IEA:Ensembl	P	response to insecticide
GO:0033591	IEA:Ensembl	P	response to L-ascorbic acid
GO:0009651	IEA:Ensembl	P	response to salt stress
GO:0033197	IEA:Ensembl	P	response to vitamin E
GO:0014037	IEA:Ensembl	P	Schwann cell differentiation
GO:0044281	TAS:Reactome	P	small molecule metabolic process
GO:0008202	TAS:Reactome	P	steroid metabolic process
GO:0016125	TAS:Reactome	P	sterol metabolic process
GO:0061370	IEA:Ensembl	P	testosterone biosynthetic process
GO:0042359	ISS:UniProtKB	P	vitamin D metabolic process
GO:0006805	TAS:Reactome	P	xenobiotic metabolic process

REACTOME Pathway Links

REACTOME Pathway ID	Description
REACT_13433	Biological oxidations
REACT_13567	Cytochrome P450 - arranged by substrate type
REACT_268767	Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)
REACT_268601	Defective CYP11B1 causes Adrenal hyperplasia 4 (AH4)
REACT_268761	Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency)
REACT_268217	Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5)
REACT_268478	Defective CYP19A1 causes Aromatase excess syndrome (AEXS)
REACT_268087	Defective CYP1B1 causes Glaucoma
REACT_267893	Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3)
REACT_268803	Defective CYP24A1 causes Hypercalcemia, infantile (HCAI)
REACT_268108	Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)
REACT_267734	Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4)
REACT_268413	Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX)
REACT_268633	Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A)
REACT_268491	Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B)
REACT_268326	Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56)
REACT_268441	Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5)
REACT_267709	Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3)
REACT_268486	Defective FMO3 causes Trimethylaminuria (TMAU)
REACT_267863	Defective MAOA causes Brunner syndrome (BRUNS)
REACT_268528	Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD)
REACT_116125	Disease
REACT_13812	Endogenous sterols
REACT_267615	Metabolic disorders of biological oxidation enzymes
REACT_111217	Metabolism
REACT_22258	Metabolism of lipids and lipoproteins
REACT_11057	Metabolism of steroid hormones and vitamin D
REACT_13705	Phase 1 - Functionalization of compounds
REACT_11038	Pregnenolone biosynthesis

SMP Pathway Links

SMP ID	Description
SMP00575	11-beta-hydroxylase deficiency (CYP11B1)
SMP00566	17-alpha-hydroxylase deficiency (CYP17)
SMP00576	21-hydroxylase deficiency (CYP21)
SMP00718	3-Beta-Hydroxysteroid Dehydrogenase Deficiency
SMP00373	Adrenal Hyperplasia Type 3 or Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency
SMP00372	Adrenal Hyperplasia Type 5 or Congenital Adrenal Hyperplasia due to 17 Alpha-hydroxylase Deficiency
SMP00717	Apparent mineralocorticoid excess syndrome
SMP00371	Congenital Lipoid Adrenal Hyperplasia (CLAH) or Lipoid CAH
SMP00577	Corticosterone methyl oxidase I deficiency (CMO I)
SMP00578	Corticosterone methyl oxidase II deficiency - CMO II
SMP00130	Steroidogenesis