PKLR - pyruvate kinase L/R Gene

Also Known as PK1; PKL; RPK; PKRL

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 5313

About PKLR

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:155,289,293-155,308,654 (from NCBI)

This gene has 3 transcripts (splice variants), 1 gene allele, 192 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in liver (RPKM 34.0), kidney (RPKM 20.1) and 3 other tissues.

Summary

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 Products (2)

mRNA	Protein	Name
NM_000298.6	NP_000289.1	pyruvate kinase PKLR isoform 1
NM_181871.4	NP_870986.1	pyruvate kinase PKLR isoform 2

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
part of pyruvate kinase complex	IDA IDA: Inferred from direct assay	23270483	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PKLR Protein Structure

PK_C

0
100
200
300
400
500
574 a.a.

Protein Preferred Names	Protein Names
pyruvate kinase PKLR	R-type/L-type pyruvate kinase

PKLR Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	PKLR	P30613	CPNE7	Homo sapiens	Q9UBL6-2	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PKLR Proteins

製品番号	製品名	アクセッション番号	純度
HY-P71210	PKLR Protein, Human (HEK293, His)	P30613-1 (M1-S574)	≥ 95%, as determined by reducing SDS-PAGE.

関連疾患

Diseases	Alias
Pyruvate Kinase Deficiency Of Red Cells	Pyruvate Kinase Deficiency Pk Deficiency Pyruvate Kinase Deficiency Of Erythrocyte Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency Pyruvate Kinase Deficiency Of Erythrocytes Pkd PKRD Hereditary Non-Spherocytic Hemolytic Anemia Due To Pyruvate Kinase Deficiency Hnsha Pyruvate Kinase-Deficient Hemolytic Anemia Red Cell Pyruvate Kinase Deficiency Deficiency Of Pyruvate Kinase Anemia, Hemolytic, Congenital Nonspherocytic
Adenosine Triphosphate, Elevated, Of Erythrocytes	Pyruvate Kinase Hyperactivity PKHYP High Red Cell Atp Syndrome
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect
Congenital Nonspherocytic Hemolytic Anemia	Hereditary Non-Spherocytic Hemolytic Anemia Hereditary Nonspherocytic Hemolytic Anemia Anemia, Hemolytic, Congenital Nonspherocytic Congenital Nonspherocytic Hemolytic Anaemia Hereditary Nonspherocytic Hemolytic Anaemia Hnsha
Congenital Hemolytic Anemia	Anemia Hemolytic Congenital Anemia, Hemolytic, Congenital Congenital Hemolytic Anaemia Hereditary Hemolytic Anaemia Hereditary Hemolytic Anemia
Neonatal Jaundice	Neonatal Hyperbilirubinemia Neonatal Icterus Jaundice Neonatal Jaundice, Neonatal Hyperbilirubinemia, Neonatal
Gaucher'S Disease	Gaucher Disease Kerasin Thesaurismosis Glucocerebrosidase Deficiency Glucosylceramidase Deficiency Cerebroside Lipidosis Syndrome Acid Beta-Glucosidase Deficiency Glucosylceramide Beta-Glucosidase Deficiency Acute Cerebral Gaucher Disease Gaucher Splenomegaly Glucocerebrosidosis Glucosyl Cerebroside Lipidosis Kerasin Lipoidosis Lipoid Histiocytosis Glocucerebrosidase Deficiency Sphingolipidosis 1 Gaucher Syndrome Gauchers Disease Gd Glucosylceramide Lipidosis Kerasin Histiocytosis Gaucher Disease, Type 1 Gaucher Disease, Type 2
Anhidrosis	Hypohidrosis Absence Of Sweating Adiaphoresis Impaired Sweating Oligohidrosis
Insulinoma	Islet Cell Adenoma Insulin-Producing Tumor Of Islet Cells Adenoma Islet Cell Islet Cell Tumor Experimental Organism Islet Cell Adenoma Neoplasm
Anemia, Congenital Dyserythropoietic, Type Ia	Congenital Dyserythropoietic Anemia Type I Cda I CDAN1A Congenital Dyserythropoietic Anemia Type 1 Congenital Dyserythropoietic Anemia Type Ia Congenital Dyserythropoietic Anemia, Type I Anemia, Congenital Dyserythropoietic, Type I Cda Type 1 Cda Type I Cda Ia Dyserythropoietic Anemia, Congenital Type 1 Anemia, Congenital Dyserythropoietic, Type 1a Dyserythropoietic Anemia, Congenital, Type Ia Cda, Type Ia Congenital Dyserythropoietic Anaemia Type 1 Congenital Dyserythropoietic Anaemia Type I Anemia, Dyserythropoietic, Congenital Type 1 Type I Congenital Dyserythropoietic Anemia Anemia, Congenital Dyserythropoietic, 1a Anemia, Dyserythropoietic, Congenital, Type Ia
Erythrocytosis, Familial, 7	ECYT7 Erythrocytosis 7 Familial Erythrocytosis 7 Erythrocytosis, Alpha-Globin Type Polycythemia, Alpha-Globin Type Alpha-Globin Type Erythrocytosis Alpha-Globin Type Polycythemia
Erythrocytosis, Familial, 8	Diphosphoglycerate Mutase Deficiency Of Erythrocyte ECYT8 Bisphosphoglycerate Mutase Deficiency Bisphosphoglyceromutase Deficiency Bpgm Deficiency Dpgm Deficiency Deficiency Of Bisphosphoglycerate Mutase Familial Erythrocytosis 8 Hemolytic Anemia Due To Diphosphoglycerate Mutase Deficiency Erythrocytosis Due To Bisphosphoglycerate Mutase Deficiency Erythrocytosis, Familial, Type 8
Anemia, Congenital Dyserythropoietic, Type Iv	CDAN4 Congenital Dyserythropoietic Anemia Type Iv Congenital Dyserythropoietic Anemia Type 4 Cda Iv Cda Due To Klf1 Mutation Cda Type 4 Cda Type Iv Congenital Dyserythropoietic Anemia Due To Klf1 Mutation Cda, Type Iv Dyserythropoietic Anemia, Congenital, Type Iv Congenital Dyserythropoietic Anaemia Due To Klf1 Mutation Congenital Dyserythropoietic Anaemia Type 4 Congenital Dyserythropoietic Anaemia Type Iv Anemia, Congenital Dyserythropoietic, 4 Anemia, Dyserythropoietic Congenital, Type Iv Anemia, Dyserythropoietic, Congenital, Type Iv
Neonatal Anemia	Anemia Neonatal Anemia, Neonatal Anaemia Neonatal Neonatal Anaemia
Glucosephosphate Dehydrogenase Deficiency	G6pd Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency Deficiency Of Glucose-6-Phosphate Dehydrogenase Glucose 6 Phosphate Dehydrogenase Deficiency Deficiency Of G-6pd G6pdd
Malaria	Malaria, Susceptibility To Malaria, Resistance To Malaria, Cerebral Cerebral Malaria Malaria, Severe, Susceptibility To Malaria, Severe, Resistance To Malaria, Cerebral, Susceptibility To Induced Malaria Malaria, Vivax, Protection Against Malaria, Severe Malaria, Cerebral, Reduced Risk Of Malaria, Protection Against Resistance To Malaria Due To G6pd Deficiency Malaria Due To G6pd Deficiency Malarial Encephalitis CM Malaria Cerebral Susceptibility To Malaria Acute Pernicious Fever Aestivo-Autumnal Fever Aestivo Autumnal Malaria Chagres Fever Continued Malaria Fever Estivo-Autumnal Fever Estivo-Autumnal Malaria Estivo-Autumnal Malarial Fever Falciparum Fever Malignant Tertian Fever Malignant Tertian Malaria Pernicious Intermittent Fever Pernicious Malaria Quotidian Malaria Subtertian Fever Subtertian Malaria Fever Subtertian Malignant Tertian Malaria Tropical Malaria Algid Malaria Bilious Haemoglobinuric Fever Black Water Fever Blackwater Fever Malarial Blackwater Fever Severe Malarial Falciparum West African Fever Malarial Haematinuria Haemoglobinuric Fever Haemoglobinuric Malaria Severe Plasmodium Falciparum Malaria Malarial Haemoglobinuria Malarial Haematuria Falciparum Malaria [Malignant Tertian] Malaria Tropica Malarial Shock Chagres Virus Disease Malignant Malaria Mtm - [Malignant Tertian Malaria] Tm -[Malignant Tertian Malaria] Panama Fever St - [Subtertian Malaria] Malarial Quotidian Benign Tertian Malaria Tertian Ague Vivax Fever Plasmodium Vivax Malaria Nos Btm - [Benign Tertian Malaria] Bt - [Benign Tertian Malaria] Vivax Malaria Benign Tertian Vivax Malaria Tertian Malaria Quartan Malaria Quartan Ague Quartan Fever Plasmodium Malariae Malaria Nos Quartan Malarial Malaria By Plasmodium Malariae Malariae Malaria Ovale Tertian Malaria Plasmodium Ovale Fever Malaria Fever By Plasmodium Ovale Ovale Malaria Malaria By Plasmodium Ovale Malarial Ovale Marsh Fever Remittent Congestive Fever Coastal Fever Remittent Gastric Fever Miasmatic Fever Congestive Remittent Fever Intermittent Fever Jungle Fever Paludism Cameroon Fever Ague Corsican Fever Intermittent Bilious Fever Disease Due To Plasmodiidae Malarial Fever Plasmodiosis Remittent Fever Roman Fever Malaria Fever Nos Malaria Nos Paludal Fever Clinically Diagnosed Malaria Clinically Diagnosed Malaria Without Parasitological Confirmation Congestive Fever Malarial Cachexia Marsh Cachexia Paludal Cachexia Recurrent Malaria Remittent Malaria
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Hereditary Spherocytosis	Congenital Spherocytic Hemolytic Anemia Spherocytic Anemia Congenital Spherocytosis Spherocytosis, Type 1 Minkowski Chauffard Syndrome Hs Minkowski-Chauffard Disease Minkowski-Chauffard Syndrome Spherocytosis Hereditary Spherocytosis, Hereditary Anemia, Hereditary Spherocytic Hemolytic
Erythrocytosis, Familial, 6	ECYT6 Erythrocytosis 6 Familial Erythrocytosis 6 Erythrocytosis, Beta-Globin Type Polycythemia, Beta-Globin Type Beta-Globin Type Erythrocytosis Beta-Globin Type Polycythemia
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Dehydrated Hereditary Stomatocytosis Hereditary Xerocytosis Xerocytosis, Hereditary Pshk1 Pseudohyperkalemia Edinburgh Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema DHS1 Dhs Hereditary Desiccytosis Dehydrated Hereditary Stomatocytosis 1 Desiccytosis, Hereditary Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak Pseudohyperkalemia Familial 1, Due To Red Cell Leak Desiccytosis Hereditary Xerocytosis Hereditary Familial Pseudohyperkalemia 1 Due To Red Cell Leak Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema Xerocytosis
Hereditary Elliptocytosis	Congenital Elliptocytosis Ovalocytosis Elliptocytosis, Hereditary He Elliptocytosis Hereditary Congenital Ovalocytosis Elliptocytosis Hereditary Elliptocytosis With Infantile Poikilocytosis Hereditary Ovalocytosis Oval Erythrocytosis He - [Hereditary Elliptocytosis] Elliptocytosis Anaemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-12689	Mitapivat	Activator	99.84%	Yes
HY-12689A	Mitapivat hemisulfate sesquihydrate	Activator	/	Unkown
HY-12689B	Mitapivat hemisulfate	Activator	/	Unkown

Clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Phase
HY-135884	Tebapivat	Activator	99.66%	Phase 2

Pre-clinical Phase

Bioactive Molecules (5)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-122682	SBI-993		98.79%	Unkown
HY-12689S	Mitapivat-d8	Activator	/	Unkown
HY-RS10601	PKLR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18255	Pklr Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24735	Pklr Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Canis familiaris	PKLR	VGNC	VGNC:44609
Bos taurus	PKLR	VGNC	VGNC:32943
Felis catus	PKLR	VGNC	VGNC:107912
Rattus norvegicus	PKLR	RGD	RGD:3336
Mus musculus	PKLR	MGD	MGI:97604
Macaca mulatta	PKLR	VGNC	VGNC:76011
Others	PKLR	NCBI