|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:CYP7
gptkb:cholesterol_7-alpha-monooxygenase
|
|
gptkbp:associatedWith
|
gptkb:familial_hypercholesterolemia
gptkb:cerebrotendinous_xanthomatosis
|
|
gptkbp:biologicalProcess
|
oxidoreductase activity
bile acid biosynthetic process
|
|
gptkbp:cellularComponent
|
endoplasmic reticulum membrane
|
|
gptkbp:clinicalTrialPhase
|
sequencing for hypercholesterolemia diagnosis
|
|
gptkbp:discoveredBy
|
Russell DW et al.
|
|
gptkbp:encodes
|
gptkb:cholesterol_7_alpha-hydroxylase
|
|
gptkbp:Entrez_Gene_ID
|
1581
|
|
gptkbp:enzymeCommissionNumber
|
gptkb:EC_1.14.14.23
|
|
gptkbp:expressedIn
|
liver
|
|
gptkbp:firstDescribed
|
1985
|
|
gptkbp:fullName
|
gptkb:cytochrome_P450_family_7_subfamily_A_member_1
|
|
gptkbp:function
|
catalyzes the rate-limiting step in bile acid synthesis
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
2596
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CYP7A1 gene
|
|
gptkbp:inducedBy
|
cholesterol
|
|
gptkbp:inhibitedBy
|
bile acids
|
|
gptkbp:length
|
6 exons
|
|
gptkbp:locatedOnChromosome
|
chromosome 8
8q12.1
|
|
gptkbp:mutationAssociatedWith
|
can cause cholesterol metabolism disorders
|
|
gptkbp:OMIM
|
118465
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Cyp7a1
|
|
gptkbp:pathway
|
lipid metabolism
bile acid biosynthesis
cholesterol catabolism
|
|
gptkbp:product
|
CYP7A1 protein
|
|
gptkbp:proteinFamily
|
gptkb:cytochrome_P450
|
|
gptkbp:regulates
|
regulated by farnesoid X receptor (FXR)
regulated by liver X receptor (LXR)
|
|
gptkbp:species
|
gptkb:human
|
|
gptkbp:transcriptionFactorBinding
|
gptkb:FOXA2
gptkb:HNF4A
LRH-1
|
|
gptkbp:UniProtID
|
gptkb:P22680
|
|
gptkbp:bfsParent
|
gptkb:LXRα
gptkb:cytochrome_P450_family_7_subfamily_A_member_1
|
|
gptkbp:bfsLayer
|
7
|