| URN | urn:agi-llid:5313 |
|---|---|
| Total Entities | 0 |
| Connectivity | 210 |
| 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. |
| GO Molecular Function | catalytic activity |
|---|---|
| transferase activity | |
| kinase activity | |
| pyruvate kinase activity | |
| nucleotide binding | |
| ATP binding | |
| metal ion binding | |
| magnesium ion binding | |
| potassium ion binding |
| GO Cellular Component | cytosol |
|---|
| GO Biological Process | metabolic process |
|---|---|
| small molecule metabolic process | |
| pyruvate biosynthetic process | |
| ATP biosynthetic process | |
| glycolytic process | |
| glucose metabolic process | |
| energy reserve metabolic process | |
| endocrine pancreas development | |
| response to nutrient | |
| response to ATP | |
| response to cAMP | |
| response to glucose | |
| cellular response to insulin stimulus | |
| response to metal ion | |
| response to lithium ion | |
| response to organic cyclic compound | |
| response to hypoxia | |
| response to heat | |
| response to other organism | |
| positive regulation of cellular metabolic process | |
| phosphorylation | |
| carbohydrate metabolic process |
| Pathway | Glycolysis |
|---|---|
| Insulin/CEBPA/CTNNB/FOXA/FOXO Expression Targets | |
| Insulin/MEF/MYOD Expression Targets | |
| New Pathway | |
| glycolysis/gluconeogenesis pathway | |
| glycolysis pathway | |
| pyruvate metabolic pathway |
| Group | Glucose metabolism |
|---|---|
| Purine metabolism | |
| metabolic process | |
| small molecule metabolic process | |
| pyruvate biosynthetic process | |
| ATP biosynthetic process | |
| glycolytic process | |
| glucose metabolic process | |
| energy reserve metabolic process | |
| endocrine pancreas development | |
| response to nutrient | |
| response to ATP | |
| response to cAMP | |
| response to glucose | |
| cellular response to insulin stimulus | |
| response to metal ion | |
| response to lithium ion | |
| response to organic cyclic compound | |
| response to hypoxia | |
| response to heat | |
| response to other organism | |
| positive regulation of cellular metabolic process | |
| catalytic activity | |
| transferase activity | |
| kinase activity | |
| pyruvate kinase activity | |
| phosphorylation | |
| carbohydrate metabolic process | |
| nucleotide binding | |
| ATP binding | |
| metal ion binding | |
| magnesium ion binding | |
| potassium ion binding | |
| cytosol | |
| Secreted proteins |
| LocusLink ID | 5313 |
|---|---|
| 18770 | |
| 24651 |
| Cell Localization | Cytoplasm |
|---|
| GO ID | 0005524 |
|---|---|
| 0000287 | |
| 0030955 | |
| 0004743 | |
| 0006754 | |
| 0005975 | |
| 0032869 | |
| 0031018 | |
| 0006112 | |
| 0006006 | |
| 0006096 | |
| 0031325 | |
| 0042866 | |
| 0033198 | |
| 0051591 | |
| 0009749 | |
| 0009408 | |
| 0001666 | |
| 0010226 | |
| 0007584 | |
| 0051707 | |
| 0044281 | |
| 0005829 | |
| 0003824 | |
| 0016301 | |
| 0046872 | |
| 0000166 | |
| 0016740 | |
| 0008152 | |
| 0016310 | |
| 0010038 | |
| 0014070 | |
| 0005575 | |
| 0005625 |
| Alias | PK1 |
|---|---|
| PKL | |
| PKR | |
| RPK | |
| PKRL | |
| pyruvate kinase PKLR | |
| pyruvate kinase 1 | |
| pyruvate kinase type L | |
| pyruvate kinase isozyme R/L | |
| pyruvate kinase isozymes L/R | |
| pyruvate kinase isozymes 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 | |
| Pklg | |
| pyruvate kinase, liver and red blood cell | |
| pyruvate kinase type R | |
| liver/erythrocytes pyruvate kinase | |
| R-type pyruvate kinase | |
| pyruvate kinase, liver and RBC | |
| Pyruvate kinase, isozymes R/L | |
| pyruvate kinase liver and red blood cell | |
| L-type pyruvate kinase | |
| OTTMUSP00000019089 | |
| PKLR | |
| pyruvate kinase I | |
| pyruvate kinase isozyme L | |
| pyruvate kinase isozyme R | |
| OTTHUMP00000034069 | |
| pyruvate kinase, liver and RBC type | |
| R-type/L-type pyruvate kinase | |
| PK I | |
| liver and rbc | |
| liver and red blood cell |
| Mouse chromosome position | 3 39.01 cM |
|---|---|
| 3 44.0 cM |
| OMIM ID | 609712 |
|---|---|
| 102900 | |
| 266200 |
| Rat chromosome position | 2q34 |
|---|
| Hugo ID | 9020 |
|---|
| Human chromosome position | 1q21 |
|---|
| Swiss-Prot Accession | P30613 |
|---|---|
| E9Q509 | |
| Q3UEH4 | |
| Q3UEI4 | |
| G3X925 | |
| P53657 | |
| B1WBN9 | |
| P12928 | |
| P11973 | |
| P04763 | |
| Q64618 |
| PIR ID | I52269 |
|---|---|
| A27427 | |
| A92940 |
| Unigene ID | Hs.95990 |
|---|---|
| Mm.383180 | |
| Rn.48821 |
| KEGG ID | hsa:5313 |
|---|---|
| mmu:18770 | |
| rno:24651 |
| Swiss-Prot ID | KPYR_HUMAN |
|---|---|
| KPYR_RAT |
| EC Number | 2.7.1.40 |
|---|
| Ensembl ID | ENSG00000143627 |
|---|---|
| ENSP00000376214 | |
| ENST00000392414 | |
| ENSMUSG00000041237 | |
| ENSMUSP00000103106 | |
| ENSMUST00000107482 | |
| ENSMUSP00000035417 | |
| ENSMUST00000047111 | |
| ENSRNOG00000020420 | |
| ENSRNOP00000058886 | |
| ENSRNOT00000065791 | |
| ENSRNOP00000027700 | |
| ENSRNOT00000027700 |
| Homologene ID | 37286 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 97604 |
|---|
| RGD ID | 3336 |
|---|
| MedScan ID | 5313 |
|---|