Statements (23)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
GC-SA
soluble guanylate cyclase alpha-1 subunit |
gptkbp:associatedWith |
pulmonary hypertension
recessive inherited thrombophilia |
gptkbp:component |
soluble guanylate cyclase
|
gptkbp:encodes |
guanylate cyclase soluble subunit alpha-1
|
gptkbp:Entrez_Gene_ID |
2976
ENSG00000164116 |
gptkbp:expressedIn |
vascular smooth muscle cells
|
gptkbp:foundIn |
gptkb:Homo_sapiens
|
gptkbp:function |
catalyzes conversion of GTP to cGMP
|
gptkbp:geneType |
protein-coding
|
gptkbp:HGNC_ID |
HGNC:4686
|
https://www.w3.org/2000/01/rdf-schema#label |
GUCY1A1
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_4
|
gptkbp:mutationAssociatedWith |
hereditary thrombophilia
|
gptkbp:OMIM |
600053
|
gptkbp:orthologInMouse |
Gucy1a1
|
gptkbp:product |
sGC alpha-1 subunit
|
gptkbp:UniProtID |
Q02108
|
gptkbp:bfsParent |
gptkb:GUCY
|
gptkbp:bfsLayer |
7
|