EDN1 gene

GPTKB entity

Statements (33)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alias gptkb:ET-1
gptkb:ET1
PPET1
gptkbp:alternativeSplicing yes
gptkbp:associatedWith gptkb:cardiovascular_disease
hypertension
pulmonary arterial hypertension
gptkbp:discoveredIn 1988
gptkbp:encodes endothelin-1 protein
gptkbp:Entrez_Gene_ID 1906
ENSG00000151617
gptkbp:expressedIn endothelial cells
gptkbp:fullName endothelin 1
gptkbp:function regulation of blood pressure
vasoconstriction
gptkbp:geneType protein-coding
gptkbp:HGNC_ID 3176
https://www.w3.org/2000/01/rdf-schema#label EDN1 gene
gptkbp:locatedOnChromosome gptkb:chromosome_6
6p24.1
gptkbp:mutationAssociatedWith can cause vascular disorders
gptkbp:OMIM 131240
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologInMouse Edn1
gptkbp:pathway G protein-coupled receptor signaling pathway
endothelin signaling pathway
gptkbp:product gptkb:endothelin-1
preproendothelin-1
gptkbp:regulates vascular tone
gptkbp:UniProtID P05305
gptkbp:bfsParent gptkb:ET-1
gptkbp:bfsLayer 7