• Gene id: 1583

Gene Summary

• Gene Symbol: CYP11A1   Gene   UCSC   Ensembl
• Aliases: CYP11A, CYPXIA1, P450SCC
• Gene name: cytochrome P450 family 11 subfamily A member 1
• Alternate names: cholesterol side-chain cleavage enzyme, mitochondrial, cholesterol 20-22 desmolase, cholesterol monooxygenase (side-chain cleaving), cytochrome P450 11A1, cytochrome P450 family 11 subfamily A polypeptide 1, cytochrome P450(scc), cytochrome P450, subfamil,
• Gene location: 15q24.1 (74367739: 74337761)     Exons: 10     NC_000015.10
• Gene summary(Entrez): This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein local
• OMIM: 118485

Protein Summary

• Protein general information: P05108  
  • Name: Cholesterol side chain cleavage enzyme, mitochondrial (EC 1.14.15.6) (CYPXIA1) (Cholesterol desmolase) (Cytochrome P450 11A1) (Cytochrome P450(scc))
  • Length: 521  
  • Mass: 60,102
• Sequence:

  MLAKGLPPRSVLVKGCQTFLSAPREGLGRLRVPTGEGAGISTRSPRPFNEIPSPGDNGWLNLYHFWRETGTHKVH
  LHHVQNFQKYGPIYREKLGNVESVYVIDPEDVALLFKSEGPNPERFLIPPWVAYHQYYQRPIGVLLKKSAAWKKD
  RVALNQEVMAPEATKNFLPLLDAVSRDFVSVLHRRIKKAGSGNYSGDISDDLFRFAFESITNVIFGERQGMLEEV
  VNPEAQRFIDAIYQMFHTSVPMLNLPPDLFRLFRTKTWKDHVAAWDVIFSKADIYTQNFYWELRQKGSVHHDYRG
  ILYRLLGDSKMSFEDIKANVTEMLAGGVDTTSMTLQWHLYEMARNLKVQDMLRAEVLAARHQAQGDMATMLQLVP
  LLKASIKETLRLHPISVTLQRYLVNDLVLRDYMIPAKTLVQVAIYALGREPTFFFDPENFDPTRWLSKDKNITYF
  RNLGFGWGVRQCLGRRIAELEMTIFLINMLENFRVEIQHLSDVGTTFNLILMPEKPISFTFWPFNQEATQQ

• Structural information:
  • Interpro: IPR033283  IPR001128  IPR017972  IPR002401  IPR036396  
  • Prosite: PS00086
  • PDB: 3N9Y 3N9Z 3NA0 3NA1
  • PDBsum: 3N9Y 3N9Z 3NA0 3NA1
  • STRING: ENSP00000268053
• Other Databases: GeneCards:  CYP11A1  Malacards:  CYP11A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005506	iron ion binding	IEA	molecular function
GO:0005739	mitochondrion	ISS	cellular component
GO:0005743	mitochondrial inner membrane	IBA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006700	C21-steroid hormone biosynthetic process	IDA	biological process
GO:0006700	C21-steroid hormone biosynthetic process	IDA	biological process
GO:0006700	C21-steroid hormone biosynthetic process	IDA	biological process
GO:0006700	C21-steroid hormone biosynthetic process	TAS	biological process
GO:0006704	glucocorticoid biosynthetic process	IBA	biological process
GO:0008203	cholesterol metabolic process	ISS	biological process
GO:0008203	cholesterol metabolic process	IMP	biological process
GO:0008203	cholesterol metabolic process	IDA	biological process
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	ISS	molecular function
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	IDA	molecular function
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	IDA	molecular function
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	IDA	molecular function
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	TAS	molecular function
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	TAS	molecular function
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	TAS	molecular function
GO:0016125	sterol metabolic process	TAS	biological process
GO:0016709	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	IBA	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0034650	cortisol metabolic process	IBA	biological process
GO:0042359	vitamin D metabolic process	ISS	biological process
GO:0044550	secondary metabolite biosynthetic process	IBA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0071375	cellular response to peptide hormone stimulus	IBA	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	ISS	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IBA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006700	C21-steroid hormone biosynthetic process	IEA	biological process
GO:0006700	C21-steroid hormone biosynthetic process	IEA	biological process
GO:0006700	C21-steroid hormone biosynthetic process	IDA	biological process
GO:0006700	C21-steroid hormone biosynthetic process	IDA	biological process
GO:0006700	C21-steroid hormone biosynthetic process	IDA	biological process
GO:0006700	C21-steroid hormone biosynthetic process	TAS	biological process
GO:0006704	glucocorticoid biosynthetic process	IBA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0008203	cholesterol metabolic process	ISS	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IMP	biological process
GO:0008203	cholesterol metabolic process	IDA	biological process
GO:0008207	C21-steroid hormone metabolic process	IEA	biological process
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	IEA	molecular function
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	IEA	molecular function
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	IEA	molecular function
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	ISS	molecular function
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	IDA	molecular function
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	IDA	molecular function
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	IDA	molecular function
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	TAS	molecular function
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	TAS	molecular function
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	TAS	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016125	sterol metabolic process	TAS	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0016709	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	IBA	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0034650	cortisol metabolic process	IBA	biological process
GO:0042359	vitamin D metabolic process	ISS	biological process
GO:0044550	secondary metabolite biosynthetic process	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0071375	cellular response to peptide hormone stimulus	IBA	biological process
GO:0005739	mitochondrion	ISS	cellular component
GO:0005743	mitochondrial inner membrane	IBA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006700	C21-steroid hormone biosynthetic process	IDA	biological process
GO:0006700	C21-steroid hormone biosynthetic process	IDA	biological process
GO:0006700	C21-steroid hormone biosynthetic process	IDA	biological process
GO:0006700	C21-steroid hormone biosynthetic process	TAS	biological process
GO:0006704	glucocorticoid biosynthetic process	IBA	biological process
GO:0008203	cholesterol metabolic process	ISS	biological process
GO:0008203	cholesterol metabolic process	IMP	biological process
GO:0008203	cholesterol metabolic process	IDA	biological process
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	ISS	molecular function
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	IDA	molecular function
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	IDA	molecular function
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	IDA	molecular function
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	TAS	molecular function
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	TAS	molecular function
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity	TAS	molecular function
GO:0016125	sterol metabolic process	TAS	biological process
GO:0016709	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	IBA	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0034650	cortisol metabolic process	IBA	biological process
GO:0042359	vitamin D metabolic process	ISS	biological process
GO:0044550	secondary metabolite biosynthetic process	IBA	biological process
GO:0071375	cellular response to peptide hormone stimulus	IBA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04913	Ovarian steroidogenesis
hsa04925	Aldosterone synthesis and secretion
hsa04927	Cortisol synthesis and secretion
hsa04934	Cushing syndrome

Diseases

Associated diseases	References
Cancer (prostate)	GAD: 15054879
Cancer	GAD: 16195240
Cancer (colorectal)	GAD: 17615053
Cancer (endometrial)	GAD: 18437511
Cancer (lung)	GAD: 16195240
Cancer (prostate)	GAD: 16172228
Cancer (breast)	GAD: 11062177
Hypertension	GAD: 19197249
Hyperandrogenism	INFBASE: 16116976
Celiac disease	GAD: 19240061
Obesity	GAD: 20734064
Bone diseases	GAD: 19453261
Autism	GAD: 19598235
Ovarian hyperstimulation syndrome (OHSS)	GAD: 16391898
Late-onset adrenal insufficiency	INFBASE: 19116240
Endometriosis	INFBASE: 19001523
Polycystic ovary syndrome (PCOS)	INFBASE: 11821083
Female infertility	INFBASE: 12457445
Premature ovarian failure (POF)	INFBASE: 22699877
Congenital adrenal hyperplasia	KEGG: H00216
46,XY patients with disorders of sex development	MIK: 22474171
Male factor infertility	MIK: 18082732
Penoscrotal hypospadias	MIK: 22968487
Penoscrotal hypospadias	MIK: 29178636
Sertoli cell only syndrome (SCOS)	MIK: 18082732
Spermatogenesis defects	MIK: 18082732
Congenital adrenal insufficiency	MIK: 29178636
Micropenis	MIK: 29178636
Cryptorchidism	MIK: 29178636
Congenital adrenal insufficiency	OMIM: 118485
Hypospadias	MIK: 19116240
Hyperandrogenism	GAD: 18307388
46,XY patients with disorders of sex development	MIK: 22474171
Congenital adrenal insufficiency	MIK: 29178636
Hypospadias	MIK: 29178636
Hypospermatogenesis	MIK: 28361989
Male infertility	MIK: 18082732
Spermatogenic failure	MIK: 18082732
Sertoli- cell only syndrome	MIK: 18082732
Polycystic ovary syndrome (PCOS)	MIK: 11821083
Penoscrotal hypospadias	MIK: 22968487

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22968487	Penoscrotal hypospadias	p.R360W, p.R405X		1 46,XY DSD	Male infertility
18082732	Male infertility, Spermatogenic failure, Sertoli- cell only syndrome			34 azoospermic men	Male infertility	GnRH-I GnRH-II GnRH-R CYP11A1 HSD3B2
21159840	Congenital lipoid adrenal hyperplasia			2 (46,XY male presented with underdeveloped genitalia and partial adrenal insufficiency; his 46,XX sister presented with adrenal insufficiency)	Male infertility, Female infertility	CYP11A1
22474171	46,XY patients with disorders of sex development	p.L376F, p.G328V		2 46,XY DSD	Male infertility, Female infertility
19116240	Late-onset adrenal insufficiency, hypospadias	L222P		1 patient with late-onset adrenal insufficiency and hypospadias in a 46,XY patient	Male infertility
11821083	PCOS
29178636	Congenital adrenal insufficiency, Hypospadias	c.425+1G>A, p.E314K		1 case	Male infertility
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray