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MitoProteome Human Mitochondrial Protein Database
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Related Proteins
MT000170
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";
MitoProteome Human Mitochondrial Protein Database
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