pyruvate kinase, liver and RBC
Symbol
PKLR
(may also be known as: None)
Organism
Human
Description
The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Orthologs
| Symbol | Species | |
|---|---|---|
| pyk-1 | Caenorhabditis elegans | |
| PyK | Drosophila melanogaster | |
| Pklr | Mus musculus | |
| Pklr | Rattus norvegicus | |
| PYK2 | Saccharomyces cerevisiae | |
| pyk1 | Schizosaccharomyces pombe |
Links to external resources
Changes associated with this gene
GO Terms
| GO ID | GO Term | GO Category | |
|---|---|---|---|
| GO:0001666 | response to hypoxia | biological_process | |
| GO:0005975 | carbohydrate metabolic process | biological_process | |
| GO:0006006 | glucose metabolic process | biological_process | |
| GO:0006096 | glycolysis | biological_process | |
| GO:0006112 | energy reserve metabolic process | biological_process | |
| GO:0006754 | ATP biosynthetic process | biological_process | |
| GO:0007584 | response to nutrient | biological_process | |
| GO:0009408 | response to heat | biological_process | |
| GO:0009749 | response to glucose stimulus | biological_process | |
| GO:0010226 | response to lithium ion | biological_process | |
| GO:0014070 | response to organic cyclic compound | biological_process | |
| GO:0031018 | endocrine pancreas development | biological_process | |
| GO:0031325 | positive regulation of cellular metabolic process | biological_process | |
| GO:0032869 | cellular response to insulin stimulus | biological_process | |
| GO:0033198 | response to ATP | biological_process | |
| GO:0042866 | pyruvate biosynthetic process | biological_process | |
| GO:0044281 | small molecule metabolic process | biological_process | |
| GO:0051591 | response to cAMP | biological_process | |
| GO:0051707 | response to other organism | biological_process | |
| GO:0005625 | soluble fraction | cellular_component | |
| GO:0005829 | cytosol | cellular_component | |
| GO:0000166 | nucleotide binding | molecular_function | |
| GO:0000287 | magnesium ion binding | molecular_function | |
| GO:0004743 | pyruvate kinase activity | molecular_function | |
| GO:0005524 | ATP binding | molecular_function | |
| GO:0016740 | transferase activity | molecular_function | |
| GO:0030955 | potassium ion binding | molecular_function | |