Statements (25)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeSplicing |
yes
|
gptkbp:associatedWith |
gptkb:Tarui_disease
glycolysis |
gptkbp:biologicalProcess |
carbohydrate metabolic process
6-phosphofructokinase activity |
gptkbp:cellularComponent |
gptkb:cytoplasm
|
gptkbp:encodes |
phosphofructokinase, liver type (protein)
|
gptkbp:Entrez_Gene_ID |
5211
ENSG00000152556 |
gptkbp:expressedIn |
gptkb:leukocytes
liver |
gptkbp:fullName |
phosphofructokinase, liver type
|
gptkbp:function |
catalyzes phosphorylation of fructose-6-phosphate in glycolysis
|
gptkbp:HGNC_ID |
8883
|
https://www.w3.org/2000/01/rdf-schema#label |
PFKL
|
gptkbp:locatedOnChromosome |
21q22.3
|
gptkbp:mutationAssociatedWith |
gptkb:glycogen_storage_disease_type_VII
|
gptkbp:OMIM |
172430
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologInMouse |
Pfkl
|
gptkbp:proteinFamily |
phosphofructokinase family
|
gptkbp:UniProtID |
P17858
|
gptkbp:bfsParent |
gptkb:Phosphofructokinase
|
gptkbp:bfsLayer |
7
|