Pyruvate kinase PKLR

PKLR
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2VGB, 2VGF, 2VGG, 2VGI, 4IMA, 4IP7
Identifiers
Aliases	PKLR, PK1, PKL, PKR, PKRL, RPK, pyruvate kinase, liver and RBC, pyruvate kinase L/R
External IDs	OMIM: 609712; MGI: 97604; HomoloGene: 37286; GeneCards: PKLR; OMA:PKLR - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	155,301,438 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	89,054,091 bp
RNA expression pattern
	Top expressed in
	liver; ; right lobe of liver; ; duodenum; ; bone marrow; ; bone marrow cells; ; renal cortex; ; Cerebellum; ; cerebellar cortex; ; cerebellar hemisphere; ; human kidney;
	Top expressed in
	fetal liver hematopoietic progenitor cell; ; jejunum; ; yolk sac; ; duodenum; ; left lobe of liver; ; ileum; ; intestinal villus; ; epithelium of small intestine; ; Ileal epithelium; ; lumbar subsegment of spinal cord;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	transferase activity; nucleotide binding; potassium ion binding; metal ion binding; kinase activity; catalytic activity; ATP binding; magnesium ion binding; pyruvate kinase activity;
Cellular component	cytosol; extracellular exosome; cytoplasm;
Biological process	response to ATP; response to hypoxia; phosphorylation; response to nutrient; canonical glycolysis; response to metal ion; pyruvate biosynthetic process; response to heat; response to glucose; response to lithium ion; ATP biosynthetic process; metabolism; response to cAMP; glycolytic process; cellular response to insulin stimulus; cellular response to epinephrine stimulus; carbohydrate metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	5313
	18770
	ENSG00000262785; ENSG00000143627
	ENSMUSG00000041237
	P30613
	P53657
	NM_000298; NM_181871
	NM_001099779; NM_013631
	NP_000289; NP_870986
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Pyruvate kinase PKLR is an enzyme that in humans is encoded by the PKLR gene.

The protein encoded by this gene is a pyruvate kinase that catalyzes the production of pyruvate and ATP from phosphoenolpyruvate. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Alternatively spliced transcript variants encoding distinct isoforms have been described.