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MGP000770

UniProt Annotations

Entry Information

Gene Name	cytochrome P450, family 17, subfamily A, polypeptide 1
Protein Entry	CP17A_HUMAN
UniProt ID	P05093
Species	Human

Comments

Comment type	Description
Catalytic Activity	17-alpha-hydroxyprogesterone = androst-4-ene- 3,17-dione + acetaldehyde. {ECO:0000269\|PubMed:22266943}.
Catalytic Activity	A C(21)-steroid + (reduced NADPH--hemoprotein reductase) + O(2) = a 17-alpha-hydroxy-C(21)-steroid + (oxidized NADPH--hemoprotein reductase) + H(2)O. {ECO:0000269\|PubMed:22266943}.
Cofactor	Name=heme; Xref=ChEBI:CHEBI:30413; Evidence={ECO:0000269\|PubMed:22266943};
Disease	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:0000269\|PubMed:10720067, ECO:0000269\|PubMed:11549685, ECO:0000269\|PubMed:11836339, ECO:0000269\|PubMed:12466376, ECO:0000269\|PubMed:14671162, ECO:0000269\|PubMed:1515452, ECO:0000269\|PubMed:1714904, ECO:0000269\|PubMed:1740503, ECO:0000269\|PubMed:2808364, ECO:0000269\|PubMed:8027220, ECO:0000269\|PubMed:8245018, ECO:0000269\|PubMed:8345056, ECO:0000269\|PubMed:8396144, ECO:0000269\|PubMed:8550762, ECO:0000269\|Ref.20}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme Regulation	Regulated predominantly by intracellular cAMP levels.
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:0000269\|PubMed:22266943}.
Pathway	Lipid metabolism; steroid biosynthesis.
Ptm	Phosphorylation is necessary for 17,20-lyase, but not for 17- alpha-hydroxylase activity. {ECO:0000269\|PubMed:10720067}.
Similarity	Belongs to the cytochrome P450 family. {ECO:0000305}.
Subcellular Location	Membrane {ECO:0000305}.
Web Resource	Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=CYP17A1";