InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CYP11A1

Summary

InnateDB Protein

IDBP-21989.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CYP11A1

Protein Name

cytochrome P450, family 11, subfamily A, polypeptide 1

Synonyms

CYP11A; CYPXIA1; P450SCC;

Species

Homo sapiens

Ensembl Protein

ENSP00000268053

InnateDB Gene

IDBG-21987 (CYP11A1)

Protein Structure

UniProt Annotation

Function

Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone. {ECO:0000269PubMed:21636783}.

Subcellular Localization

Mitochondrion membrane.

Disease Associations

Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743]: A rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure. Patients with congenital adrenal insufficiency do not manifest the massive adrenal enlargement typical of congenital lipoid adrenal hyperplasia. {ECO:0000269PubMed:11502818, ECO:0000269PubMed:12161514, ECO:0000269PubMed:16705068, ECO:0000269PubMed:18182448, ECO:0000269PubMed:19116240}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005506	iron ion binding
GO:0008386	cholesterol monooxygenase (side-chain-cleaving) activity
GO:0015485	cholesterol binding
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0020037	heme binding

Biological Process

GO:0001101	response to acid
GO:0006082	organic acid metabolic process
GO:0006694	steroid biosynthetic process
GO:0006700	C21-steroid hormone biosynthetic process
GO:0006701	progesterone biosynthetic process
GO:0006703	estrogen biosynthetic process
GO:0006805	xenobiotic metabolic process
GO:0007584	response to nutrient
GO:0007617	mating behavior
GO:0008202	steroid metabolic process
GO:0008203	cholesterol metabolic process
GO:0008584	male gonad development
GO:0009651	response to salt stress
GO:0010033	response to organic substance
GO:0010212	response to ionizing radiation
GO:0010332	response to gamma radiation
GO:0014037	Schwann cell differentiation
GO:0014070	response to organic cyclic compound
GO:0016125	sterol metabolic process
GO:0017085	response to insecticide
GO:0018879	biphenyl metabolic process
GO:0018894	dibenzo-p-dioxin metabolic process
GO:0018958	phenol-containing compound metabolic process
GO:0018963	phthalate metabolic process
GO:0021549	cerebellum development
GO:0021766	hippocampus development
GO:0033197	response to vitamin E
GO:0033327	Leydig cell differentiation
GO:0033591	response to L-ascorbic acid
GO:0033595	response to genistein
GO:0034698	response to gonadotropin
GO:0042359	vitamin D metabolic process
GO:0042493	response to drug
GO:0042542	response to hydrogen peroxide
GO:0043279	response to alkaloid
GO:0043434	response to peptide hormone
GO:0043627	response to estrogen
GO:0044281	small molecule metabolic process
GO:0044344	cellular response to fibroblast growth factor stimulus
GO:0046677	response to antibiotic
GO:0046686	response to cadmium ion
GO:0048545	response to steroid hormone
GO:0050756	fractalkine metabolic process
GO:0051412	response to corticosterone
GO:0051591	response to cAMP
GO:0055114	oxidation-reduction process
GO:0060014	granulosa cell differentiation
GO:0060135	maternal process involved in female pregnancy
GO:0060992	response to fungicide
GO:0061370	testosterone biosynthetic process
GO:0071222	cellular response to lipopolysaccharide
GO:0071236	cellular response to antibiotic
GO:0071276	cellular response to cadmium ion
GO:0071320	cellular response to cAMP
GO:0071347	cellular response to interleukin-1
GO:0071356	cellular response to tumor necrosis factor
GO:0071371	cellular response to gonadotropin stimulus
GO:0071372	cellular response to follicle-stimulating hormone stimulus
GO:0071375	cellular response to peptide hormone stimulus
GO:0071560	cellular response to transforming growth factor beta stimulus

Cellular Component

GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane
GO:0005759	mitochondrial matrix
GO:0030061	mitochondrial crista
GO:0043204	perikaryon

Protein Structure and Domains

PDB ID

InterPro

IPR001128 Cytochrome P450
IPR002397 Cytochrome P450, B-class
IPR002399 Cytochrome P450, mitochondrial
IPR002401 Cytochrome P450, E-class, group I
IPR002403 Cytochrome P450, E-class, group IV

PFAM

PF00067

PRINTS

PR00385
PR00359
PR00408
PR00463
PR00465

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P05108