|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:PK1
gptkb:PKL
PKR
Pyruvate kinase, liver and RBC
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:nonspherocytic_hemolytic_anemia
pyruvate kinase deficiency
|
|
gptkbp:biologicalProcess
|
glycolysis
catalytic activity
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:cofactor
|
K+
Mg2+
|
|
gptkbp:discoveredBy
|
multiple researchers
|
|
gptkbp:encodes
|
pyruvate kinase, liver and red blood cell isoforms
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000143627
5313
|
|
gptkbp:enzymeCommissionNumber
|
2.7.1.40
|
|
gptkbp:expressedIn
|
liver
erythrocytes
|
|
gptkbp:firstDescribed
|
1970s
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
9024
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PKLR gene
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:length
|
12 exons
574 amino acids (L isoform)
575 amino acids (R isoform)
|
|
gptkbp:locatedOnChromosome
|
chromosome 1
1q21
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
frameshift
splice site
|
|
gptkbp:OMIM
|
266200
|
|
gptkbp:orthologInMouse
|
gptkb:Pklr
|
|
gptkbp:pathway
|
metabolic pathways
glycolysis/gluconeogenesis
|
|
gptkbp:product
|
gptkb:ATP
gptkb:pyruvate
pyruvate kinase L/R
|
|
gptkbp:proteinFamily
|
gptkb:pyruvate_kinase_family
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:regulates
|
allosteric regulation
|
|
gptkbp:subcellularLocation
|
gptkb:cytoplasm
|
|
gptkbp:substrate
|
phosphoenolpyruvate
|
|
gptkbp:UniProtID
|
gptkb:P30613
|
|
gptkbp:bfsParent
|
gptkb:Cytoplasmic_Pyruvate_Kinase
gptkb:Pyruvate_kinase_isozymes_R/L
gptkb:pyruvate_kinase,_liver_and_RBC
gptkb:pyruvate_kinase,_liver_and_red_blood_cell_isoform
gptkb:pyruvate_kinase_(PKLR)
|
|
gptkbp:bfsLayer
|
8
|