InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CYP17A1

Summary

InnateDB Protein

IDBP-88188.6

Last Modified

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

Gene Symbol

CYP17A1

Protein Name

cytochrome P450, family 17, subfamily A, polypeptide 1

Synonyms

CPT7; CYP17; P450C17; S17AH;

Species

Homo sapiens

Ensembl Protein

ENSP00000358903

InnateDB Gene

IDBG-88186 (CYP17A1)

Protein Structure

UniProt Annotation

Function

Conversion of pregnenolone and progesterone to their 17- alpha-hydroxylated products and subsequently to dehydroepiandrosterone (DHEA) and androstenedione. Catalyzes both the 17-alpha-hydroxylation and the 17,20-lyase reaction. Involved in sexual development during fetal life and at puberty. {ECO:0000269PubMed:22266943}.

Subcellular Localization

Membrane {ECO:0000305}.

Disease Associations

Adrenal hyperplasia 5 (AH5) [MIM:202110]: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late- onset (NC or LOAH)and 'cryptic' (asymptomatic). {ECO:0000269PubMed:10720067, ECO:0000269PubMed:11549685, ECO:0000269PubMed:11836339, ECO:0000269PubMed:12466376, ECO:0000269PubMed:14671162, ECO:0000269PubMed:1515452, ECO:0000269PubMed:1714904, ECO:0000269PubMed:1740503, ECO:0000269PubMed:2808364, ECO:0000269PubMed:8027220, ECO:0000269PubMed:8245018, ECO:0000269PubMed:8345056, ECO:0000269PubMed:8396144, ECO:0000269PubMed:8550762, ECO:0000269Ref.20}. 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 7 experimentally validated interaction(s) in this database.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004508	steroid 17-alpha-monooxygenase activity
GO:0005506	iron ion binding
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0019825	oxygen binding
GO:0020037	heme binding
GO:0047442	17-alpha-hydroxyprogesterone aldolase activity

Biological Process

GO:0006082	organic acid metabolic process
GO:0006694	steroid biosynthetic process
GO:0006702	androgen biosynthetic process
GO:0006704	glucocorticoid biosynthetic process
GO:0006805	xenobiotic metabolic process
GO:0007548	sex differentiation
GO:0008202	steroid metabolic process
GO:0008584	male gonad development
GO:0009635	response to herbicide
GO:0009636	response to toxic substance
GO:0010033	response to organic substance
GO:0010034	response to acetate
GO:0010212	response to ionizing radiation
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:0021766	hippocampus development
GO:0030325	adrenal gland development
GO:0030728	ovulation
GO:0031667	response to nutrient levels
GO:0032526	response to retinoic acid
GO:0033327	Leydig cell differentiation
GO:0034097	response to cytokine
GO:0034698	response to gonadotropin
GO:0042446	hormone biosynthetic process
GO:0042448	progesterone metabolic process
GO:0042493	response to drug
GO:0044281	small molecule metabolic process
GO:0048545	response to steroid hormone
GO:0051591	response to cAMP
GO:0051597	response to methylmercury
GO:0055114	oxidation-reduction process
GO:0060992	response to fungicide
GO:0071222	cellular response to lipopolysaccharide
GO:0071236	cellular response to antibiotic
GO:0071371	cellular response to gonadotropin stimulus
GO:0090031	positive regulation of steroid hormone biosynthetic process

Cellular Component

GO:0005739	mitochondrion
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0030424	axon
GO:0042995	cell projection
GO:0043025	neuronal cell body
GO:0043231	intracellular membrane-bounded organelle