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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]
PKLR (Pyruvate Kinase L/R) is a Protein Coding gene. Diseases associated with PKLR include Pyruvate Kinase Deficiency Of Red Cells and Adenosine Triphosphate, Elevated, Of Erythrocytes. Among its related pathways are Glucose metabolism and Regulation of beta-cell development. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and pyruvate kinase activity. An important paralog of this gene is PKM.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0000287 | magnesium ion binding | IEA | -- |
GO:0003824 | catalytic activity | IEA | -- |
GO:0004743 | pyruvate kinase activity | IEA,NAS | 1445295 |
GO:0005524 | ATP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
GO:0070062 | extracellular exosome | HDA | 19056867 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glucose metabolism |
Glycolysis and gluconeogenesis (short map)
.58
.52
|
.01
|
2 | Regulation of beta-cell development | ||
3 | Carbon metabolism | ||
4 | Metabolism |
.40
|
|
5 | Integration of energy metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001666 | response to hypoxia | IEA | -- |
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006096 | glycolytic process | IEA,IBA | 21873635 |
GO:0006754 | ATP biosynthetic process | IEA | -- |
GO:0007584 | response to nutrient | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Pyruvic acid | Approved, Investigational | Nutra | Target | 0 | ||
Acyclovir | Approved | Pharma | Enzyme, substrate | 117 | ||
Carbon dioxide | Approved, Investigational, Vet_approved | Pharma | 0 | |||
Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
Potassium | Approved, Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
||
dADP |
|
2793-06-8 |
|
|||
dGDP |
|
3493-09-2 |
|
|||
IDP |
|
86-04-4 |
|
|||
inosine triphosphate |
|
132-06-9 |
|
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PKLR 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PKLR 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PKLR 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pklr 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Pklr 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PKLR 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PKLR 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | pklr 30 |
|
||
CABZ01066502.1 31 |
|
OneToOne | |||
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | PyK 31 |
|
ManyToMany | |
CG2964 31 |
|
ManyToMany | |||
CG7069 31 |
|
ManyToMany | |||
CG7362 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | pyk-2 31 |
|
ManyToMany | |
pyk-1 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PYK2 30 31 33 |
|
ManyToMany | |
CDC19 31 |
|
ManyToMany | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G04050 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.4073 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os.7908 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.21113 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.7002 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
724780 | Likely Benign: not provided | 155,294,358(-) | G/A | SYNONYMOUS_VARIANT | |
746007 | Likely Benign: not provided | 155,290,684(-) | G/A | INTRON_VARIANT | |
767707 | Conflicting Interpretations: Pyruvate kinase deficiency of red cells; not specified; not provided | 155,294,618(-) | C/T | MISSENSE_VARIANT | |
801556 | Uncertain Significance: Pyruvate kinase deficiency of red cells | 155,293,395(-) | A/G | INTRON_VARIANT | |
806233 | Uncertain Significance: not provided | 155,291,767(-) | C/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
pyruvate kinase deficiency of red cells |
|
|
adenosine triphosphate, elevated, of erythrocytes |
|
|
hemolytic anemia |
|
|
congenital nonspherocytic hemolytic anemia |
|
|
congenital hemolytic anemia |
|