Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
pyruvate kinase deficiency
|
| gptkbp:encodes |
gptkb:pyruvate_kinase,_liver_and_red_blood_cell_isoform
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000143627
5313 |
| gptkbp:enzymeClassification |
gptkb:EC_2.7.1.40
|
| gptkbp:expressedIn |
liver
erythrocytes |
| gptkbp:fullName |
gptkb:pyruvate_kinase,_liver_and_RBC
|
| gptkbp:function |
glycolysis
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
9024
|
| https://www.w3.org/2000/01/rdf-schema#label |
PKLR
|
| gptkbp:locatedOnChromosome |
chromosome 1
|
| gptkbp:mutationAssociatedWith |
hereditary nonspherocytic hemolytic anemia
|
| gptkbp:OMIM |
609712
|
| gptkbp:orthologInMouse |
gptkb:Pklr
|
| gptkbp:product |
gptkb:P30613
|
| gptkbp:symbol |
gptkb:PKLR
|
| gptkbp:UniProtID |
gptkb:P30613
|
| gptkbp:bfsParent |
gptkb:pyruvate_kinase
|
| gptkbp:bfsLayer |
6
|