PKLR - pyruvate kinase L/R Gene

Homo sapiens

Also known as PK1; PKL; RPK; PKRL

Gene ID: 5313 | Gene type: protein coding

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

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

Recombinant PKLR Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71210	PKLR Protein, Human (HEK293, His)	P30613 (M1-S574)	≥95%

Related Diseases

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-12689	Mitapivat	Activator	99.83%	Yes

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-122682	SBI-993		98.67%	Unkown
HY-135884	Tebapivat	Activator	99.66%	Unkown
HY-RS10601	PKLR Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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

Name
Email *

	Sorry, but the email address you supplied was invalid.