Statements (23)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alias |
gptkb:ALK1
gptkb:activin_A_receptor_type_II-like_1 |
gptkbp:associatedWith |
gptkb:hereditary_hemorrhagic_telangiectasia_type_2
|
gptkbp:biologicalProcess |
receptor activity
|
gptkbp:encodes |
gptkb:activin_receptor-like_kinase_1
|
gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000139567
94 |
gptkbp:expressedIn |
endothelial cells
|
gptkbp:function |
serine/threonine-protein kinase activity
|
gptkbp:HGNC_ID |
gptkb:HGNC:175
|
https://www.w3.org/2000/01/rdf-schema#label |
ACVRL1
|
gptkbp:involvedIn |
angiogenesis
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_12
|
gptkbp:mutationAssociatedWith |
vascular malformations
|
gptkbp:OMIM |
601284
|
gptkbp:pathway |
gptkb:TGF-beta_signaling_pathway
|
gptkbp:proteinFamily |
gptkb:TGF-beta_receptor_family
|
gptkbp:RefSeq |
gptkb:NM_000020
|
gptkbp:species |
gptkb:Homo_sapiens
|
gptkbp:UniProtID |
gptkb:P37023
|
gptkbp:bfsParent |
gptkb:Osler-Weber-Rendu_disease
|
gptkbp:bfsLayer |
5
|