| URN | urn:agi-llid:5313 |
|---|---|
| Connectivity | 77 |
| Name | Pklr |
| Description | pyruvate kinase, liver and RBC |
| Notes | The protein encoded by this gene is a pyruvate kinase that catalyzes the production of phohsphoenolpyruvate from pyruvate and ATP. 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. |
| Pathway | pyruvate metabolic pathway |
|---|---|
| New Pathway | |
| glycolysis/gluconeogenesis pathway | |
| glycolysis pathway | |
| pyruvate metabolic pathway |
| GO Molecular Function | catalytic activity |
|---|---|
| nucleotide binding | |
| transferase activity | |
| ATP binding | |
| metal ion binding | |
| magnesium ion binding | |
| potassium ion binding | |
| kinase activity | |
| pyruvate kinase activity |
| GO Cellular Component | soluble fraction |
|---|---|
| cytosol |
| GO Biological Process | response to other organism |
|---|---|
| glycolysis | |
| ATP biosynthetic process | |
| pyruvate biosynthetic process | |
| cellular response to insulin stimulus | |
| response to nutrient | |
| response to hypoxia | |
| response to heat | |
| response to metal ion | |
| response to organic cyclic substance | |
| response to cAMP | |
| response to ATP | |
| response to lithium ion | |
| response to glucose stimulus | |
| carbohydrate metabolic process |
| Ariadne Ontology | Glucose metabolism |
|---|---|
| Purine metabolism |
| Group | Glucose metabolism |
|---|---|
| Purine metabolism | |
| catalytic activity | |
| response to other organism | |
| glycolysis | |
| ATP biosynthetic process | |
| pyruvate biosynthetic process | |
| cellular response to insulin stimulus | |
| response to nutrient | |
| response to hypoxia | |
| response to heat | |
| response to metal ion | |
| response to organic cyclic substance | |
| response to cAMP | |
| response to ATP | |
| response to lithium ion | |
| response to glucose stimulus | |
| carbohydrate metabolic process | |
| nucleotide binding | |
| transferase activity | |
| ATP binding | |
| metal ion binding | |
| magnesium ion binding | |
| potassium ion binding | |
| kinase activity | |
| pyruvate kinase activity | |
| soluble fraction | |
| cytosol |
| MedScan ID | 5313 |
|---|
| Hugo ID | 9020 |
|---|
| Human chromosome position | 1q21 |
|---|
| LocusLink ID | 5313 |
|---|---|
| 18770 | |
| 24651 |
| Alias | PK1 |
|---|---|
| PKL | |
| PKR | |
| RPK | |
| PKRL | |
| pyruvate kinase isozymes R/L | |
| pyruvate kinase 1 | |
| OTTHUMP00000034069 | |
| pyruvate kinase type L | |
| pyruvate kinase isozyme R/L | |
| R-type/L-type pyruvate kinase | |
| red cell/liver pyruvate kinase | |
| pyruvate kinase, liver and blood cell | |
| Pk-1 | |
| R-PK | |
| L-PK | |
| OTTMUSP00000019089 | |
| Pklg | |
| pyruvate kinase, liver and red blood cell | |
| L-type pyruvate kinase | |
| PKLR | |
| pyruvate kinase I | |
| pyruvate kinase isozyme L | |
| pyruvate kinase isozyme R | |
| pyruvate kinase liver and red blood cell | |
| pyruvate kinase type R | |
| Pyruvate kinase, isozymes R/L | |
| pyruvate kinase, liver and RBC | |
| R-type pyruvate kinase | |
| R-type/L-type pyruvate kinase | |
| PK I | |
| pyruvate kinase, liver and RBC type | |
| liver and rbc | |
| liver and red blood cell |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 609712 |
|---|---|
| 102900 | |
| 266200 |
| Mouse chromosome position | 3 44.0 cM |
|---|
| GO ID | 0005524 |
|---|---|
| 0000287 | |
| 0000166 | |
| 0030955 | |
| 0004743 | |
| 0016740 | |
| 0006096 | |
| 0003824 | |
| 0016301 | |
| 0046872 | |
| 0006754 | |
| 0005975 | |
| 0032869 | |
| 0042866 | |
| 0033198 | |
| 0051591 | |
| 0009408 | |
| 0010226 | |
| 0051707 | |
| 0005829 | |
| 0005625 | |
| 0009749 | |
| 0001666 | |
| 0010038 | |
| 0007584 | |
| 0014070 | |
| 0005575 |
| Rat chromosome position | 2q34 |
|---|
| Swiss-Prot Accession | P30613 |
|---|---|
| O75758 | |
| Q16715 | |
| Q16716 | |
| Q3UEH4 | |
| Q3UEI4 | |
| P53657 | |
| B1WBN9 | |
| P12928 | |
| P04763 | |
| Q64618 | |
| P11973 |
| PIR ID | A27427 |
|---|---|
| A92940 | |
| I52269 |
| Unigene ID | Hs.95990 |
|---|---|
| Mm.383180 | |
| Rn.48821 |
| KEGG ID | hsa:5313 |
|---|---|
| mmu:18770 | |
| rno:24651 |
| EC Number | 2.7.1.40 |
|---|
| Swiss-Prot ID | KPYR_RAT |
|---|---|
| KPYR_HUMAN | |
| B1WBN9_RAT | |
| Q3UEI4_MOUSE | |
| Q3UEH4_MOUSE |
| Cell Localization | Cytoplasm |
|---|
| IPI ID | IPI00202549 |
|---|---|
| IPI00231683 | |
| IPI00027165 | |
| IPI00941093 | |
| IPI00775829 | |
| IPI00133605 | |
| IPI00743713 | |
| IPI00871353 | |
| IPI00776364 |
| Homologene ID | 37286 |
|---|
| RGD ID | 3336 |
|---|
| MGI ID | 97604 |
|---|