Statements (49)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alias |
gptkb:CYP17
17,20-lyase 17α-hydroxylase P450C17 |
gptkbp:associatedWith |
congenital adrenal hyperplasia
17α-hydroxylase deficiency sexual development disorders |
gptkbp:biologicalProcess |
oxidoreductase activity
heme binding iron ion binding |
gptkbp:encodes |
Steroid 17-alpha-hydroxylase/17,20 lyase
|
gptkbp:Entrez_Gene_ID |
1586
|
gptkbp:enzymeCommissionNumber |
EC 1.14.14.19
|
gptkbp:expressedIn |
adrenal cortex
gonads |
gptkbp:function |
catalyzes 17,20-lyase reaction
catalyzes 17α-hydroxylation of pregnenolone and progesterone |
gptkbp:geneType |
protein-coding
|
gptkbp:HGNC_ID |
2592
|
https://www.w3.org/2000/01/rdf-schema#label |
CYP17A1
|
gptkbp:involvedIn |
steroidogenesis
androgen biosynthesis glucocorticoid biosynthesis |
gptkbp:length |
508 amino acids
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_10
10q24.3 |
gptkbp:memberOf |
gptkb:cytochrome_P450_superfamily
|
gptkbp:mutationAssociatedWith |
can cause hypertension
can cause hypokalemia can cause sexual infantilism |
gptkbp:OMIM |
609300
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologInMouse |
Cyp17a1
|
gptkbp:pathway |
gptkb:steroid_hormone_biosynthesis
androgen and estrogen metabolism |
gptkbp:PDB |
3RUK
4NKV 4NKX |
gptkbp:referenceGenome |
NM_000102
|
gptkbp:referenceSequenceProtein |
NP_000093
|
gptkbp:regulates |
regulated by ACTH
regulated by SF-1 regulated by cAMP |
gptkbp:subcellularLocation |
endoplasmic reticulum membrane
|
gptkbp:UniProtID |
P05093
|
gptkbp:bfsParent |
gptkb:CYP17_family
gptkb:CYP_family |
gptkbp:bfsLayer |
5
|