CYP17A1
entrez
1586
canonical
uniprot
P05093
canonical
ensembl
ENSG00000148795
resolver
ensp
ENSP00000358903
resolver
enst
ENST00000369887
resolver
genesymbol
CYP17A1
resolver
genesymbol_syn
CYP17
resolver
genesymbol_syn
S17AH
resolver
hgnc
HGNC:2593
resolver
uniprot
Q1HB44
resolver
uniprot
Q5TZV7
resolver
uniprot_entry
CP17A_HUMAN
resolver
uniprot_entry
Q1HB44_HUMAN
resolver
uniprot_sec
Q5TZV7
resolver
activity_regulation
ACTIVITY REGULATION: Regulated predominantly by intracellular cAMP levels (PubMed:10720067). The 17,20-lyase activity is stimulated by cytochrome b5, which acts as an allosteric effector increasing the Vmax of the lyase activity (PubMed:27339894, PubMed:9452426). {ECO:0000269|PubMed:10720067, ECO:0000269|PubMed:27339894, ECO:0000269|PubMed:9452426}.
uniprot
proteins
amino_acid_sequence
MWELVALLLLTLAYLFWPKRRCPGAKYPKSLLSLPLVGSLPFLPRHGHMHNNFFKLQKKYGPIYSVRMGTKTTVIVGHHQLAKEVLIKKGKDFSGRPQMATLDIASNNRKGIAFADSGAHWQLHRRLAMATFALFKDGDQKLEKIICQEISTLCDMLATHNGQSIDISFPVFVAVTNVISLICFNTSYKNGDPELNVIQNYNEGIIDNLSKDSLVDLVPWLKIFPNKTLEKLKSHVKIRNDLLNKILENYKEKFRSDSITNMLDTLMQAKMNSDNGNAGPDQDSELLSDNHILTTIGDIFGAGVETTTSVVKWTLAFLLHNPQVKKKLYEEIDQNVGFSRTPTISDRNRLLLLEATIREVLRLRPVAPMLIPHKANVDSSIGEFAVDKGTEVIINLWALHHNEKEWHQPDQFMPERFLNPAGTQLISPSVSYLPFGAGPRSCIGEILARQELFLIMAWLLQRFDLEVPDDGQLPSLEGIPKVVFLIDSFKVKIKVRQAWREAQAEGST
uniprot
proteins
disease_involvement
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:19793597, ECO:0000269|PubMed:24140098, ECO:0000269|PubMed:24498484, ECO:0000269|PubMed:25650406, 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.24}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.14.19
uniprot
proteins
ec_number
1.14.14.32
uniprot
proteins
function
FUNCTION: A cytochrome P450 monooxygenase involved in corticoid and androgen biosynthesis (PubMed:22266943, PubMed:25301938, PubMed:27339894, PubMed:9452426). Catalyzes 17-alpha hydroxylation of C21 steroids, which is common for both pathways. A second oxidative step, required only for androgen synthesis, involves an acyl-carbon cleavage. The 17-alpha hydroxy intermediates, as part of adrenal glucocorticoids biosynthesis pathway, are precursors of cortisol (Probable) (PubMed:25301938, PubMed:9452426). Hydroxylates steroid hormones, pregnenolone and progesterone to form 17-alpha hydroxy metabolites, followed by the cleavage of the C17-C20 bond to form C19 steroids, dehydroepiandrosterone (DHEA) and androstenedione (PubMed:22266943, PubMed:25301938, PubMed:27339894, PubMed:36640554, PubMed:9452426). Has 16-alpha hydroxylase activity. Catalyzes 16-alpha hydroxylation of 17-alpha hydroxy pregnenolone, followed by the cleavage of the C17-C20 bond to form 16-alpha-hydroxy DHEA (PubMed:36640554). Also 16-alpha hydroxylates androgens, relevant for estriol synthesis (PubMed:25301938, PubMed:27339894). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:22266943, PubMed:25301938, PubMed:27339894, PubMed:9452426). {ECO:0000269|PubMed:22266943, ECO:0000269|PubMed:25301938, ECO:0000269|PubMed:27339894, ECO:0000269|PubMed:36640554, ECO:0000269|PubMed:9452426, ECO:0000305|PubMed:8027220}.
uniprot
proteins
mass_dalton
57371
uniprot
proteins
mutagenesis
MUTAGEN 105; /note="A->L: Increases the affinity for progesterone, resulting in preferential hydroxylation of progesterone at C17 over C16; increases the catalytic efficiency in the 17,20 lyase reaction."; /evidence="ECO:0000269|PubMed:25301938
uniprot
proteins
pathway_participation
PATHWAY: Steroid hormone biosynthesis. {ECO:0000269|PubMed:22266943, ECO:0000269|PubMed:25301938, ECO:0000269|PubMed:27339894, ECO:0000269|PubMed:9452426}.; PATHWAY: Steroid biosynthesis; glucocorticoid biosynthesis. {ECO:0000269|PubMed:25301938, ECO:0000269|PubMed:9452426}.
uniprot
proteins
post_translational_modification
PTM: Phosphorylation is necessary for 17,20-lyase, but not for 17-alpha-hydroxylase activity. {ECO:0000269|PubMed:10720067}.
uniprot
proteins
protein_family
Cytochrome P450 family
uniprot
proteins
pubmed
10406467
uniprot
proteins
pubmed
10720067
uniprot
proteins
pubmed
11549685
uniprot
proteins
pubmed
11836339
uniprot
proteins
pubmed
12466376
uniprot
proteins
pubmed
14671162
uniprot
proteins
pubmed
1515452
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1714904
uniprot
proteins
pubmed
1740503
uniprot
proteins
pubmed
1964490
uniprot
proteins
pubmed
19793597
uniprot
proteins
pubmed
22266943
uniprot
proteins
pubmed
24140098
uniprot
proteins
pubmed
24498484
uniprot
proteins
pubmed
25301938
uniprot
proteins
pubmed
25650406
uniprot
proteins
pubmed
27339894
uniprot
proteins
pubmed
2808364
uniprot
proteins
pubmed
2843762
uniprot
proteins
pubmed
3025870
uniprot
proteins
pubmed
3274893
uniprot
proteins
pubmed
3500022
uniprot
proteins
pubmed
36640554
uniprot
proteins
pubmed
8027220
uniprot
proteins
pubmed
8245018
uniprot
proteins
pubmed
8345056
uniprot
proteins
pubmed
8396144
uniprot
proteins
pubmed
8550762
uniprot
proteins
pubmed
9452426
uniprot
proteins
sequence_length
508
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305|PubMed:2808364}. Microsome membrane {ECO:0000305|PubMed:2808364}.
uniprot
proteins