APOA1 gene

GPTKB entity

Statements (48)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alias gptkb:ApoA-I
apolipoprotein A1
gptkbp:associatedWith gptkb:Tangier_disease
gptkb:Alzheimer's_disease
atherosclerosis
coronary artery disease
high-density lipoprotein
familial hypoalphalipoproteinemia
gptkbp:biologicalProcess antioxidant activity
activates LCAT
anti-inflammatory activity
binds cholesterol
binds phospholipids
major protein component of HDL
gptkbp:clinicalTrialPhase HDL cholesterol measurement
gptkbp:discoveredBy gptkb:Donald_Fredrickson
gptkbp:encodes gptkb:apolipoprotein_A-I
gptkbp:Entrez_Gene_ID 335
ENSG00000118137
gptkbp:expressedIn gptkb:small_intestine
liver
gptkbp:function reverse cholesterol transport
cholesterol transport
gptkbp:HGNC_ID HGNC:600
https://www.w3.org/2000/01/rdf-schema#label APOA1 gene
gptkbp:length 267 amino acids
gptkbp:locatedOnChromosome 11
11q23.3
gptkbp:mutationAssociatedWith gptkb:Tangier_disease
gptkb:familial_HDL_deficiency
gptkbp:OMIM 107680
gptkbp:orthologInMouse gptkb:Apoa1
gptkbp:pathway lipid metabolism
reverse cholesterol transport
cholesterol efflux
gptkbp:product gptkb:apolipoprotein_A-I
amphipathic alpha-helix
gptkbp:proteinFamily apolipoprotein family
gptkbp:regulates cholesterol efflux from cells
plasma HDL levels
gptkbp:sequence 1862 bp
gptkbp:UniProtID P02647
gptkbp:variant APOA1 Fin
APOA1 Milano
APOA1 Paris
gptkbp:bfsParent gptkb:Apolipoprotein_A-I
gptkbp:bfsLayer 7