|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:CYP17
17,20-lyase
17α-hydroxylase
P450C17
|
|
gptkbp:associatedWith
|
gptkb: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
|
|
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:steroid_hormone_biosynthesis
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CYP17A1
|