GlyCosmos Portal

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 7 in total

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GO Term	Evidence Code	PMID
cellular response to peptide hormone stimulus	IBA
vitamin D metabolic process	ISS
sterol metabolic process
C21-steroid hormone biosynthetic process	IBA IDA TAS	11502818 18182448 21636783
glucocorticoid biosynthetic process	IBA

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 3** entries
GO Term	Evidence Code	PMID
mitochondrial inner membrane	IBA ISS
mitochondrial matrix
mitochondrion	ISS

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 **all 4** entries
GO Term	Evidence Code	PMID
iron ion binding	IEA
cholesterol monooxygenase (side-chain-cleaving) activity	IBA IDA ISS TAS	11502818 18182448 21636783
protein binding	IPI	25464930
heme binding	IDA	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.

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 entries **1 - 10** of **167** in total

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DO ID	Disease Name	Source
DOID:0050457	Sertoli cell-only syndrome	DisGeNET
DOID:0050546	congenital adrenal insufficiency	DisGeNET Alliance of Genome Resources
DOID:0050569	Seckel syndrome	DisGeNET
DOID:0050657	Bannayan-Riley-Ruvalcaba syndrome	DisGeNET
DOID:0050811	congenital adrenal hyperplasia	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060041	autism spectrum disorder	DisGeNET
DOID:0060254	Robinow syndrome	DisGeNET
DOID:0060390	distal 10q deletion syndrome	DisGeNET
DOID:0060391	chromosome 13q14 deletion syndrome	DisGeNET
DOID:0060394	chromosome 15q13.3 microdeletion syndrome	DisGeNET

The Human Phenotype Ontology

Displaying entries **51 - 52** of 52 in total

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HPO ID	HPO Term
HP:0012854	Midshaft hypospadias
HP:0100779	Urogenital sinus anomaly

Displaying **all 3** entries
Disease ID	Disease Name
OMIM:613743	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
ORPHA:168558	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 **1 - 10** of 85 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Callorhinchus milii	103188165		CALMI04003
Latimeria chalumnae	102360223		LATCH13079
Danio rerio	80374	ZFIN:ZDB-GENE-010306-1	DANRE27258
Danio rerio	563363	ZFIN:ZDB-GENE-130911-1
Astyanax mexicanus	103021835		ASTMX00454
Electrophorus electricus	113573160		ELEEL11199
Salmo trutta	115197752		SALTR11571
Salmo trutta	115197753		SALTR11571
Gadus morhua	115550806		GADMO59622
Gadus morhua	115551270		GADMO59622

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements