MGP Database

MGP000770

UniProt Annotations

Entry Information
Gene Namecytochrome P450, family 17, subfamily A, polypeptide 1
Protein EntryCP17A_HUMAN
UniProt IDP05093
SpeciesHuman
Comments
Comment typeDescription
Catalytic Activity17-alpha-hydroxyprogesterone = androst-4-ene- 3,17-dione + acetaldehyde. {ECO:0000269|PubMed:22266943}.
Catalytic ActivityA 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}.
CofactorName=heme; Xref=ChEBI:CHEBI:30413; Evidence={ECO:0000269|PubMed:22266943};
DiseaseAdrenal 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 RegulationRegulated predominantly by intracellular cAMP levels.
FunctionConversion 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}.
PathwayLipid metabolism; steroid biosynthesis.
PtmPhosphorylation is necessary for 17,20-lyase, but not for 17- alpha-hydroxylase activity. {ECO:0000269|PubMed:10720067}.
SimilarityBelongs to the cytochrome P450 family. {ECO:0000305}.
Subcellular LocationMembrane {ECO:0000305}.
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=CYP17A1";
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