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cytochrome P450 family 11 subfamily A member 1

Summary

Gene Symbol

CYP11A1

Aliases

P450SCC
cholesterol monooxygenase (side-chain-cleaving)

Organism

Homo sapiens (human)

External Links

NCBI Gene

1583

HGNC

2590

KEGG Gene ID

hsa:1583

PubChem

1583

Alliance of Genome Resources

HGNC:2590

Annotation

Keyword

3D-structure
Alternative splicing
Cholesterol metabolism
Direct protein sequencing
Disease variant
Heme
Membrane
Mitochondrion
Mitochondrion inner membrane
Monooxygenase
Reference proteome
Steroid biosynthesis
Steroidogenesis
Transit peptide

Proteins

Displaying **all 2** entries
UniProt	Protein Name
A0A0S2Z3R3	Cholesterol desmolase
P05108	CYPXIA1 Cholesterol desmolase Cytochrome P450 11A1 Cytochrome P450(scc)

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 13 in total

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GO Term	Evidence Code	PMID
C21-steroid hormone biosynthetic process	TAS
C21-steroid hormone biosynthetic process	IDA	11502818 18182448 21636783
C21-steroid hormone biosynthetic process	IBA
glucocorticoid biosynthetic process	IBA
cholesterol metabolic process	ISS

GO Hierarchy

biological process

metabolic process [inference]

biosynthetic process [inference]

hormone biosynthetic process [inference]

C21-steroid hormone biosynthetic process

cellular biosynthetic process [inference]

C21-steroid hormone biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

steroid hormone biosynthetic process [inference]

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

steroid hormone biosynthetic process [inference]

hormone metabolic process [inference]

C21-steroid hormone metabolic process [inference]

C21-steroid hormone biosynthetic process

hormone biosynthetic process [inference]

C21-steroid hormone biosynthetic process

cellular metabolic process [inference]

cellular ketone metabolic process [inference]

cortisol metabolic process

cellular biosynthetic process [inference]

C21-steroid hormone biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

steroid hormone biosynthetic process [inference]

C21-steroid hormone metabolic process [inference]

C21-steroid hormone biosynthetic process

glucocorticoid metabolic process [inference]

sterol metabolic process

cholesterol metabolic process

vitamin D metabolic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

steroid hormone biosynthetic process [inference]

small molecule metabolic process [inference]

alcohol metabolic process [inference]

primary alcohol metabolic process [inference]

cortisol metabolic process

tertiary alcohol metabolic process [inference]

cortisol metabolic process

secondary alcohol metabolic process [inference]

cholesterol metabolic process

vitamin metabolic process [inference]

fat-soluble vitamin metabolic process [inference]

vitamin D metabolic process

cellular ketone metabolic process [inference]

cortisol metabolic process

organic substance metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

steroid hormone biosynthetic process [inference]

C21-steroid hormone metabolic process [inference]

C21-steroid hormone biosynthetic process

glucocorticoid metabolic process [inference]

sterol metabolic process

cholesterol metabolic process

vitamin D metabolic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

steroid hormone biosynthetic process [inference]

cellular ketone metabolic process [inference]

cortisol metabolic process

olefinic compound metabolic process [inference]

cortisol metabolic process

organic cyclic compound metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

steroid hormone biosynthetic process [inference]

C21-steroid hormone metabolic process [inference]

C21-steroid hormone biosynthetic process

glucocorticoid metabolic process [inference]

sterol metabolic process

cholesterol metabolic process

vitamin D metabolic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

steroid hormone biosynthetic process [inference]

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

steroid hormone biosynthetic process [inference]

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

steroid hormone biosynthetic process [inference]

organic hydroxy compound metabolic process [inference]

alcohol metabolic process [inference]

primary alcohol metabolic process [inference]

cortisol metabolic process

tertiary alcohol metabolic process [inference]

cortisol metabolic process

secondary alcohol metabolic process [inference]

cholesterol metabolic process

sterol metabolic process

cholesterol metabolic process

vitamin D metabolic process

cellular process [inference]

C21-steroid hormone metabolic process [inference]

C21-steroid hormone biosynthetic process

cellular metabolic process [inference]

cellular ketone metabolic process [inference]

cortisol metabolic process

cellular biosynthetic process [inference]

C21-steroid hormone biosynthetic process

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to organic substance [inference]

cellular response to hormone stimulus [inference]

cellular response to peptide hormone stimulus

cellular response to organonitrogen compound [inference]

cellular response to peptide [inference]

cellular response to peptide hormone stimulus

cellular response to nitrogen compound [inference]

cellular response to organonitrogen compound [inference]

cellular response to peptide [inference]

cellular response to peptide hormone stimulus

cellular response to oxygen-containing compound [inference]

cellular response to peptide [inference]

cellular response to peptide hormone stimulus

response to stimulus [inference]

response to endogenous stimulus [inference]

response to hormone [inference]

cellular response to hormone stimulus [inference]

cellular response to peptide hormone stimulus

response to peptide hormone [inference]

cellular response to peptide hormone stimulus

cellular response to endogenous stimulus [inference]

cellular response to hormone stimulus [inference]

cellular response to peptide hormone stimulus

cellular response to organonitrogen compound [inference]

cellular response to peptide [inference]

cellular response to peptide hormone stimulus

response to chemical [inference]

response to organic substance [inference]

response to hormone [inference]

cellular response to hormone stimulus [inference]

cellular response to peptide hormone stimulus

response to peptide hormone [inference]

cellular response to peptide hormone stimulus

response to organonitrogen compound [inference]

cellular response to organonitrogen compound [inference]

cellular response to peptide [inference]

cellular response to peptide hormone stimulus

response to peptide [inference]

response to peptide hormone [inference]

cellular response to peptide hormone stimulus

cellular response to peptide [inference]

cellular response to peptide hormone stimulus

cellular response to organic substance [inference]

cellular response to hormone stimulus [inference]

cellular response to peptide hormone stimulus

cellular response to organonitrogen compound [inference]

cellular response to peptide [inference]

cellular response to peptide hormone stimulus

cellular response to chemical stimulus [inference]

cellular response to organic substance [inference]

cellular response to hormone stimulus [inference]

cellular response to peptide hormone stimulus

cellular response to organonitrogen compound [inference]

cellular response to peptide [inference]

cellular response to peptide hormone stimulus

cellular response to nitrogen compound [inference]

cellular response to organonitrogen compound [inference]

cellular response to peptide [inference]

cellular response to peptide hormone stimulus

cellular response to oxygen-containing compound [inference]

cellular response to peptide [inference]

cellular response to peptide hormone stimulus

response to nitrogen compound [inference]

response to organonitrogen compound [inference]

cellular response to organonitrogen compound [inference]

cellular response to peptide [inference]

cellular response to peptide hormone stimulus

response to peptide [inference]

response to peptide hormone [inference]

cellular response to peptide hormone stimulus

cellular response to peptide [inference]

cellular response to peptide hormone stimulus

cellular response to nitrogen compound [inference]

cellular response to organonitrogen compound [inference]

cellular response to peptide [inference]

cellular response to peptide hormone stimulus

response to oxygen-containing compound [inference]

response to peptide [inference]

response to peptide hormone [inference]

cellular response to peptide hormone stimulus

cellular response to peptide [inference]

cellular response to peptide hormone stimulus

cellular response to oxygen-containing compound [inference]

cellular response to peptide [inference]

cellular response to peptide hormone stimulus

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to organic substance [inference]

cellular response to hormone stimulus [inference]

cellular response to peptide hormone stimulus

cellular response to organonitrogen compound [inference]

cellular response to peptide [inference]

cellular response to peptide hormone stimulus

cellular response to nitrogen compound [inference]

cellular response to organonitrogen compound [inference]

cellular response to peptide [inference]

cellular response to peptide hormone stimulus

cellular response to oxygen-containing compound [inference]

cellular response to peptide [inference]

cellular response to peptide hormone stimulus

biological regulation [inference]

regulation of biological quality [inference]

regulation of hormone levels [inference]

hormone metabolic process [inference]

C21-steroid hormone metabolic process [inference]

C21-steroid hormone biosynthetic process

hormone biosynthetic process [inference]

C21-steroid hormone biosynthetic process

Displaying **all 5** entries
GO Term	Evidence Code	PMID
mitochondrion	ISS
mitochondrion	HTP	34800366
mitochondrial inner membrane	ISS
mitochondrial inner membrane	IBA
mitochondrial matrix	TAS

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

organelle inner membrane [inference]

mitochondrial inner membrane

mitochondrial membrane [inference]

mitochondrial inner membrane

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

mitochondrial matrix

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

mitochondrion

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

mitochondrion

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
iron ion binding	IEA
protein binding	IPI	25464930
cholesterol monooxygenase (side-chain-cleaving) activity	ISS
cholesterol monooxygenase (side-chain-cleaving) activity	TAS
cholesterol monooxygenase (side-chain-cleaving) activity	IDA	11502818 18182448 21636783

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

monooxygenase activity [inference]

steroid hydroxylase activity [inference]

cholesterol monooxygenase (side-chain-cleaving) activity

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced iron-sulfur protein as one donor, and incorporation of one atom of oxygen [inference]

cholesterol monooxygenase (side-chain-cleaving) activity

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen [inference]

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced iron-sulfur protein as one donor, and incorporation of one atom of oxygen [inference]

cholesterol monooxygenase (side-chain-cleaving) activity

binding [inference]

protein binding

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

transition metal ion binding [inference]

iron ion binding

organic cyclic compound binding [inference]

tetrapyrrole binding [inference]

heme binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

cytochrome p450

Functional Category

C: Energy production and conversion
Q: Secondary metabolites biosynthesis, transport and catabolism
T: Signal transduction mechanisms

Displaying entries **1 - 10** of 13 in total

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Gene Ontology
C21-steroid hormone biosynthetic process
cellular response to peptide hormone stimulus
cholesterol metabolic process
cortisol metabolic process
glucocorticoid biosynthetic process
heme binding
iron ion binding
lipid metabolic process
metal ion binding
monooxygenase activity

Displaying **all 3** entries
InterPro
Cytochrome P450 superfamily
Cytochrome P450, E-class, group I
Cytochrome P450

Human Protein Atlas

ENSG00000140459

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K00498

Name

cholesterol monooxygenase (side-chain-cleaving) [EC:1.14.15.6]

References

Rhea

RHEA:35739

H⁺ + O₂ + cholesterol

H₂O + pregnenolone + 4-methylpentanal

Enzyme

1.14.15.6

PMID

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0050546	congenital adrenal insufficiency	Alliance of Genome Resources
DOID:0050811	congenital adrenal hyperplasia	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 52 in total

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HPO ID	HPO Term
HP:0000028	Cryptorchidism
HP:0000033	Ambiguous genitalia, male
HP:0000037	Male pseudohermaphroditism
HP:0000127	Renal salt wasting
HP:0000142	Abnormal vagina morphology
HP:0000144	Decreased fertility
HP:0000151	Aplasia of the uterus
HP:0000771	Gynecomastia
HP:0000823	Delayed puberty
HP:0000835	Adrenal hypoplasia

Displaying **all 3** entries
Disease ID	Disease Name
ORPHA:168558	Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
ORPHA:289548	inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
OMIM:613743	Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

PubChem Disease

MedGen Diseases

Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

OMIM Phenotypes

ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE

KEGG Diseases

Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP000259
Gene Name: cytochrome P450, family 11, subfamily A, polypeptide 1

Ortholog

Displaying entries **11 - 20** of 83 in total

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Species	Gene ID	Orthologous MAtrix
Equus caballus	100034229	HORSE17259
Ovis aries	100048994	SHEEP07871
Ornithorhynchus anatinus	100076626	ORNAN01533
Taeniopygia guttata	100151695	TAEGU02446
Oryzias latipes	100302421	ORYLA14905
Callithrix jacchus	100389930	CALJA01793
Pongo abelii	100433169	PONAB09561
Ailuropoda melanoleuca	100474049	AILME08976
Meleagris gallopavo	100543260	MELGA02995
Loxodonta africana	100665050	LOXAF10622

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UniCarb-DR

LM-GlycoRepo

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Other Information

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Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements