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Protein

Pyruvate kinase PKLR

Gene

PKLR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a key role in glycolysis.By similarity

Miscellaneous

There are 4 isozymes of pyruvate kinase in mammals: L, R, M1 and M2. L type is major isozyme in the liver, R is found in red cells, M1 is the main form in muscle, heart and brain, and M2 is found in early fetal tissues.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Protein has several cofactor binding sites:

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Allosterically activated by fructose 1,6-bisphosphate.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: glycolysis

This protein is involved in step 5 of the subpathway that synthesizes pyruvate from D-glyceraldehyde 3-phosphate.
Proteins known to be involved in the 5 steps of the subpathway in this organism are:
  1. Glyceraldehyde-3-phosphate dehydrogenase, testis-specific (GAPDHS), Glyceraldehyde-3-phosphate dehydrogenase (GAPDH), Glyceraldehyde-3-phosphate dehydrogenase (HEL-S-162eP), Glyceraldehyde-3-phosphate dehydrogenase (HEL-S-278), Glyceraldehyde-3-phosphate dehydrogenase
  2. Phosphoglycerate kinase 1 (PGK1), Phosphoglycerate kinase 2 (PGK2), Phosphoglycerate kinase, Phosphoglycerate kinase (HEL-S-272), Phosphoglycerate kinase, Phosphoglycerate kinase (HEL-S-68p), Phosphoglycerate kinase, Phosphoglycerate kinase, Phosphoglycerate kinase
  3. no protein annotated in this organism
  4. Alpha-enolase (ENO1), Beta-enolase (ENO3), Gamma-enolase (ENO2), Enolase 4 (ENO4)
  5. Pyruvate kinase PKLR (PKLR), Pyruvate kinase PKM (PKM), Pyruvate kinase (HEL-S-30), Pyruvate kinase (PKM), Pyruvate kinase, Pyruvate kinase, Pyruvate kinase (PKM), Pyruvate kinase (PKM2), Pyruvate kinase, Pyruvate kinase (PKM2), Pyruvate kinase (PKM), Pyruvate kinase, Pyruvate kinase (PKM), Pyruvate kinase (PKM2), Pyruvate kinase (PKM2)
This subpathway is part of the pathway glycolysis, which is itself part of Carbohydrate degradation.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes pyruvate from D-glyceraldehyde 3-phosphate, the pathway glycolysis and in Carbohydrate degradation.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei116SubstrateCombined sources1 Publication1
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi118PotassiumCombined sources1 Publication1
Metal bindingi120PotassiumCombined sources1 Publication1
Metal bindingi156PotassiumCombined sources1 Publication1
Metal bindingi157Potassium; via carbonyl oxygenCombined sources1 Publication1
Binding sitei313Substrate; via amide nitrogenCombined sources1 Publication1
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei313Transition state stabilizerBy similarity1
Metal bindingi315ManganeseCombined sources1 Publication1
Binding sitei338Substrate; via amide nitrogenCombined sources1 Publication1
Metal bindingi339ManganeseCombined sources1 Publication1
Binding sitei339Substrate; via amide nitrogenCombined sources1 Publication1
Binding sitei371SubstrateCombined sources1 Publication1
Binding sitei525Allosteric activatorCombined sources1 Publication1
Binding sitei532Allosteric activatorCombined sources1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionAllosteric enzyme, Kinase, Transferase
Biological processGlycolysis
LigandATP-binding, Magnesium, Metal-binding, Nucleotide-binding, Potassium, Pyruvate

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS07088-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
2.7.1.40 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-163765 ChREBP activates metabolic gene expression
R-HSA-210745 Regulation of gene expression in beta cells
R-HSA-70171 Glycolysis

SABIO-RK: Biochemical Reaction Kinetics Database

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SABIO-RKi
P30613

UniPathway: a resource for the exploration and annotation of metabolic pathways

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UniPathwayi
UPA00109;UER00188

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Pyruvate kinase PKLR (EC:2.7.1.40)
Alternative name(s):
Pyruvate kinase 1
Pyruvate kinase isozymes L/R
R-type/L-type pyruvate kinase
Red cell/liver pyruvate kinase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PKLR
Synonyms:PK1, PKL
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000143627.17

Human Gene Nomenclature Database

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HGNCi
HGNC:9020 PKLR

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609712 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P30613

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Pyruvate kinase hyperactivity (PKHYP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal dominant phenotype characterized by increase of red blood cell ATP.
See also OMIM:102900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01143537G → E in PKHYP. 1 PublicationCorresponds to variant dbSNP:rs118204087EnsemblClinVar.1
Pyruvate kinase deficiency of red cells (PKRD)17 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA frequent cause of hereditary non-spherocytic hemolytic anemia. Clinically, pyruvate kinase-deficient patients suffer from a highly variable degree of chronic hemolysis, ranging from severe neonatal jaundice and fatal anemia at birth, severe transfusion-dependent chronic hemolysis, moderate hemolysis with exacerbation during infection, to a fully compensated hemolysis without apparent anemia.
See also OMIM:266200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05846740R → W in PKRD. 1 PublicationCorresponds to variant dbSNP:rs1484388413Ensembl.1
Natural variantiVAR_05846848 – 53Missing in PKRD. 1 Publication6
Natural variantiVAR_05846973L → P in PKRD. 1 Publication1
Natural variantiVAR_01143680S → P in PKRD. 1
Natural variantiVAR_01143786R → P in PKRD. 1
Natural variantiVAR_01143890I → N in PKRD. 1 Publication1
Natural variantiVAR_01143995G → R in PKRD. Corresponds to variant dbSNP:rs750857114Ensembl.1
Natural variantiVAR_004028107M → T in PKRD. 1
Natural variantiVAR_011440111G → R in PKRD. 1 PublicationCorresponds to variant dbSNP:rs918627824Ensembl.1
Natural variantiVAR_011441115A → P in PKRD; Val de Marne. 1
Natural variantiVAR_011442120S → F in PKRD; Beaujon. 1
Natural variantiVAR_011443130S → Y in PKRD; Conakry. 1 PublicationCorresponds to variant dbSNP:rs118204089EnsemblClinVar.1
Natural variantiVAR_004029131Missing in PKRD. 1
Natural variantiVAR_004030134V → D in PKRD. 1 PublicationCorresponds to variant dbSNP:rs574051756Ensembl.1
Natural variantiVAR_011474153I → T in PKRD. 1
Natural variantiVAR_058470154A → T in PKRD. 1 PublicationCorresponds to variant dbSNP:rs780192373Ensembl.1
Natural variantiVAR_004031155L → P in PKRD. 1 Publication1
Natural variantiVAR_011444159G → V in PKRD. Corresponds to variant dbSNP:rs1239029841Ensembl.1
Natural variantiVAR_004033163R → C in PKRD; Linz. 1 PublicationCorresponds to variant dbSNP:rs118204083EnsemblClinVar.1
Natural variantiVAR_058471163R → L in PKRD. 1 Publication1
Natural variantiVAR_058472165G → V in PKRD. 1 Publication1
Natural variantiVAR_004032172E → Q in PKRD; Sassari. 1 PublicationCorresponds to variant dbSNP:rs757359024Ensembl.1
Natural variantiVAR_011475219I → T in PKRD. Corresponds to variant dbSNP:rs200572803Ensembl.1
Natural variantiVAR_004034221D → DD in PKRD. 1
Natural variantiVAR_011445222G → A in PKRD; Katsushika. 1
Natural variantiVAR_011447263G → R in PKRD. Corresponds to variant dbSNP:rs1253386414Ensembl.1
Natural variantiVAR_011448263G → W in PKRD. 1
Natural variantiVAR_058473272L → V in PKRD. 1 PublicationCorresponds to variant dbSNP:rs147659527Ensembl.1
Natural variantiVAR_004035275G → R in PKRD. Corresponds to variant dbSNP:rs747549978Ensembl.1
Natural variantiVAR_004036281D → N in PKRD. 1
Natural variantiVAR_004037287F → V in PKRD. 1
Natural variantiVAR_011449288V → L in PKRD; Moriguchi. 1
Natural variantiVAR_011446293D → N in PKRD. Corresponds to variant dbSNP:rs1352610988Ensembl.1
Natural variantiVAR_011450295A → V in PKRD. Corresponds to variant dbSNP:rs766353400Ensembl.1
Natural variantiVAR_011451310I → N in PKRD; Dordrecht. 1 Publication1
Natural variantiVAR_004038314I → T in PKRD; Hong Kong. Corresponds to variant dbSNP:rs981505482Ensembl.1
Natural variantiVAR_011452315E → K in PKRD. 1
Natural variantiVAR_058474320V → L in PKRD. 1 PublicationCorresponds to variant dbSNP:rs549295725Ensembl.1
Natural variantiVAR_004039331D → E in PKRD; Parma. 1 PublicationCorresponds to variant dbSNP:rs138476691Ensembl.1
Natural variantiVAR_011453331D → N in PKRD. Corresponds to variant dbSNP:rs773893686Ensembl.1
Natural variantiVAR_004040332G → S in PKRD; loss of catalytical activity. 3 PublicationsCorresponds to variant dbSNP:rs773626254Ensembl.1
Natural variantiVAR_011476335V → M in PKRD. 1 Publication1
Natural variantiVAR_004041336A → S in PKRD. 1 Publication1
Natural variantiVAR_004042337R → P in PKRD. 1 Publication1
Natural variantiVAR_004043337R → Q in PKRD. 1 PublicationCorresponds to variant dbSNP:rs1167329263Ensembl.1
Natural variantiVAR_004044339D → H in PKRD. 1 PublicationCorresponds to variant dbSNP:rs747097960Ensembl.1
Natural variantiVAR_004045341G → A in PKRD. 2 PublicationsCorresponds to variant dbSNP:rs1227427396Ensembl.1
Natural variantiVAR_011454341G → D in PKRD. 1
Natural variantiVAR_011455342I → F in PKRD. 1
Natural variantiVAR_011456348K → N in PKRD; Kamata. 1
Natural variantiVAR_011457348Missing in PKRD; Brescia. 1 Publication1
Natural variantiVAR_011477352A → D in PKRD. Corresponds to variant dbSNP:rs1240481888Ensembl.1
Natural variantiVAR_004046354Missing in PKRD. 1 Publication1
Natural variantiVAR_004047357I → T in PKRD. 1 PublicationCorresponds to variant dbSNP:rs779152555Ensembl.1
Natural variantiVAR_058475358G → E in PKRD. 1 Publication1
Natural variantiVAR_004048359R → C in PKRD; Aomori. Corresponds to variant dbSNP:rs138871700Ensembl.1
Natural variantiVAR_004049359R → H in PKRD. 1 PublicationCorresponds to variant dbSNP:rs1376070580Ensembl.1
Natural variantiVAR_004050361N → D in PKRD. 1 PublicationCorresponds to variant dbSNP:rs765903674Ensembl.1
Natural variantiVAR_011458364G → D in PKRD; Tjaereborg; unstability of the protein and decrease in catalytic activity. 1 PublicationCorresponds to variant dbSNP:rs981579065Ensembl.1
Natural variantiVAR_004051368V → F in PKRD; Osaka. 1 Publication1
Natural variantiVAR_058476374L → P in PKRD. 1 Publication1
Natural variantiVAR_011459376S → I in PKRD. 1
Natural variantiVAR_004052384T → M in PKRD; Tokyo/Beirut; most common mutation in Japanese population; no conformational change. 3 PublicationsCorresponds to variant dbSNP:rs74315362EnsemblClinVar.1
Natural variantiVAR_011478385R → W in PKRD. 1
Natural variantiVAR_011460387E → G in PKRD. 1 Publication1
Natural variantiVAR_011461390D → N in PKRD; Mantova; almost complete inactivation. 1 PublicationCorresponds to variant dbSNP:rs147034239Ensembl.1
Natural variantiVAR_004053392A → T in PKRD. 1 PublicationCorresponds to variant dbSNP:rs1403323591Ensembl.1
Natural variantiVAR_004054393N → K in PKRD. 1 PublicationCorresponds to variant dbSNP:rs1168490341Ensembl.1
Natural variantiVAR_004055393N → S in PKRD; Paris. 1 PublicationCorresponds to variant dbSNP:rs776594413Ensembl.1
Natural variantiVAR_011462394A → D in PKRD. 1 PublicationCorresponds to variant dbSNP:rs1035640530Ensembl.1
Natural variantiVAR_011463394A → V in PKRD. 1 Publication1
Natural variantiVAR_004056401C → CS in PKRD. 1
Natural variantiVAR_011464408T → A in PKRD; Hirosaki. 1
Natural variantiVAR_004057408T → I in PKRD. 1 Publication1
Natural variantiVAR_004058421Q → K in PKRD; Fukushima/Maebashi/Sendai. 1 PublicationCorresponds to variant dbSNP:rs118204084EnsemblClinVar.1
Natural variantiVAR_004059426R → Q in PKRD; Sapporo. 1 PublicationCorresponds to variant dbSNP:rs768002493Ensembl.1
Natural variantiVAR_004060426R → W in PKRD; Naniwa. Corresponds to variant dbSNP:rs1023689443Ensembl.1
Natural variantiVAR_011465427E → A in PKRD. 1
Natural variantiVAR_011466427E → D in PKRD. 1
Natural variantiVAR_004061431A → T in PKRD. 1 PublicationCorresponds to variant dbSNP:rs762591322Ensembl.1
Natural variantiVAR_004062458G → D in PKRD. 1 PublicationCorresponds to variant dbSNP:rs755522396Ensembl.1
Natural variantiVAR_004063459A → V in PKRD. 1
Natural variantiVAR_004064460V → M in PKRD. 1 PublicationCorresponds to variant dbSNP:rs752034960Ensembl.1
Natural variantiVAR_011479468A → G in PKRD. Corresponds to variant dbSNP:rs750540943Ensembl.1
Natural variantiVAR_004065468A → V in PKRD; Hadano. 1
Natural variantiVAR_011467477T → A in PKRD. Corresponds to variant dbSNP:rs759466273Ensembl.1
Natural variantiVAR_011480479R → H in PKRD; Amish; no conformational change. 2 PublicationsCorresponds to variant dbSNP:rs118204085EnsemblClinVar.1
Natural variantiVAR_011468485S → F in PKRD. 1
Natural variantiVAR_004066486R → W in PKRD; frequent mutation; no conformational change. 4 PublicationsCorresponds to variant dbSNP:rs116100695EnsemblClinVar.1
Natural variantiVAR_011469488R → Q in PKRD. Corresponds to variant dbSNP:rs369183199EnsemblClinVar.1
Natural variantiVAR_004067490R → W in PKRD. Corresponds to variant dbSNP:rs200133000EnsemblClinVar.1
Natural variantiVAR_011470495A → T in PKRD. 1
Natural variantiVAR_004068495A → V in PKRD. 1 PublicationCorresponds to variant dbSNP:rs141560532Ensembl.1
Natural variantiVAR_004069498R → C in PKRD. 1 PublicationCorresponds to variant dbSNP:rs551883218Ensembl.1
Natural variantiVAR_004070498R → H in PKRD. 2 PublicationsCorresponds to variant dbSNP:rs758327704Ensembl.1
Natural variantiVAR_011471504R → L in PKRD; instability of the protein. 1 PublicationCorresponds to variant dbSNP:rs185753709Ensembl.1
Natural variantiVAR_004071510R → Q in PKRD; the most common mutation in European population. 3 PublicationsCorresponds to variant dbSNP:rs113403872EnsemblClinVar.1
Natural variantiVAR_011472511G → R in PKRD. 1
Natural variantiVAR_011473531R → C in PKRD. 1
Natural variantiVAR_004072532R → Q in PKRD. 1 PublicationCorresponds to variant dbSNP:rs758278200Ensembl.1
Natural variantiVAR_004073532R → W in PKRD; Complete loss in the responsiveness to fructose 1,6-bisphosphate, FBP. 2 PublicationsCorresponds to variant dbSNP:rs201255024Ensembl.1
Natural variantiVAR_004074552V → M in PKRD. Corresponds to variant dbSNP:rs370316462Ensembl.1
Natural variantiVAR_011481557G → A in PKRD. 1
Natural variantiVAR_004075559R → G in PKRD. 1
Natural variantiVAR_004076566N → K in PKRD. 1
Natural variantiVAR_011482569R → Q in PKRD. 1 PublicationCorresponds to variant dbSNP:rs61755431Ensembl.1

Keywords - Diseasei

Disease mutation, Hereditary hemolytic anemia

Organism-specific databases

DisGeNET

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DisGeNETi
5313

MalaCards human disease database

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MalaCardsi
PKLR
MIMi102900 phenotype
266200 phenotype

Open Targets

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OpenTargetsi
ENSG00000143627

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
766 Hemolytic anemia due to red cell pyruvate kinase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA33352

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL1075126

Drug and drug target database

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DrugBanki
DB02726 2-Phosphoglycolic Acid
DB00119 Pyruvic acid

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
PKLR

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001120941 – 574Pyruvate kinase PKLRAdd BLAST574

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2PhosphoserineCombined sources1
Modified residuei19PhosphoserineCombined sources1
Modified residuei26PhosphoserineCombined sources1
Modified residuei43PhosphoserineCombined sources1
Modified residuei292PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P30613

MaxQB - The MaxQuant DataBase

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MaxQBi
P30613

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P30613

PeptideAtlas

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PeptideAtlasi
P30613

PRoteomics IDEntifications database

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PRIDEi
P30613

ProteomicsDB human proteome resource

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ProteomicsDBi
54725
54726 [P30613-2]

2D gel databases

REPRODUCTION-2DPAGE

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REPRODUCTION-2DPAGEi
P30613

Two-dimensional polyacrylamide gel electrophoresis database from the Geneva University Hospital

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SWISS-2DPAGEi
P30613

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P30613

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P30613

SwissPalm database of S-palmitoylation events

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SwissPalmi
P30613

Miscellaneous databases

CutDB - Proteolytic event database

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PMAP-CutDBi
P30613

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000143627 Expressed in 129 organ(s), highest expression level in liver

CleanEx database of gene expression profiles

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CleanExi
HS_PKLR

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P30613 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P30613 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB034376
CAB034378
HPA006653

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotetramer.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111330, 15 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-3094 PKL pyruvate kinase complex [P30613-2]
CPX-3095 PKR pyruvate kinase complex [P30613-1]

Protein interaction database and analysis system

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IntActi
P30613, 7 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000339933

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P30613

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1574
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2VGBX-ray2.73A/B/C/D47-574[»]
2VGFX-ray2.75A/B/C/D47-574[»]
2VGGX-ray2.74A/B/C/D47-574[»]
2VGIX-ray2.87A/B/C/D47-574[»]
4IMAX-ray1.95A/B/C/D34-574[»]
4IP7X-ray1.80A/B/C/D34-574[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P30613

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P30613

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P30613

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni475 – 480Allosteric activator bindingCombined sources1 Publication6
Regioni559 – 564Allosteric activator bindingCombined sources1 Publication6

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the pyruvate kinase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2323 Eukaryota
COG0469 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000008859

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000021559

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG000941

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P30613

KEGG Orthology (KO)

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KOi
K12406

Identification of Orthologs from Complete Genome Data

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OMAi
MEGPAGY

Database of Orthologous Groups

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OrthoDBi
1377476at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P30613

TreeFam database of animal gene trees

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TreeFami
TF300390

Family and domain databases

Conserved Domains Database

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CDDi
cd00288 Pyruvate_Kinase, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.40.33.10, 1 hit
3.20.20.60, 1 hit
3.40.1380.20, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001697 Pyr_Knase
IPR015813 Pyrv/PenolPyrv_Kinase-like_dom
IPR040442 Pyrv_Kinase-like_dom_sf
IPR011037 Pyrv_Knase-like_insert_dom_sf
IPR018209 Pyrv_Knase_AS
IPR015793 Pyrv_Knase_brl
IPR015795 Pyrv_Knase_C
IPR036918 Pyrv_Knase_C_sf
IPR015806 Pyrv_Knase_insert_dom_sf

The PANTHER Classification System

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PANTHERi
PTHR11817 PTHR11817, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00224 PK, 1 hit
PF02887 PK_C, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR01050 PYRUVTKNASE

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50800 SSF50800, 1 hit
SSF51621 SSF51621, 1 hit
SSF52935 SSF52935, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR01064 pyruv_kin, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00110 PYRUVATE_KINASE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform R-type (identifier: P30613-1) [UniParc]FASTAAdd to basket
Also known as: PKR

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSIQENISSL QLRSWVSKSQ RDLAKSILIG APGGPAGYLR RASVAQLTQE
60 70 80 90 100
LGTAFFQQQQ LPAAMADTFL EHLCLLDIDS EPVAARSTSI IATIGPASRS
110 120 130 140 150
VERLKEMIKA GMNIARLNFS HGSHEYHAES IANVREAVES FAGSPLSYRP
160 170 180 190 200
VAIALDTKGP EIRTGILQGG PESEVELVKG SQVLVTVDPA FRTRGNANTV
210 220 230 240 250
WVDYPNIVRV VPVGGRIYID DGLISLVVQK IGPEGLVTQV ENGGVLGSRK
260 270 280 290 300
GVNLPGAQVD LPGLSEQDVR DLRFGVEHGV DIVFASFVRK ASDVAAVRAA
310 320 330 340 350
LGPEGHGIKI ISKIENHEGV KRFDEILEVS DGIMVARGDL GIEIPAEKVF
360 370 380 390 400
LAQKMMIGRC NLAGKPVVCA TQMLESMITK PRPTRAETSD VANAVLDGAD
410 420 430 440 450
CIMLSGETAK GNFPVEAVKM QHAIAREAEA AVYHRQLFEE LRRAAPLSRD
460 470 480 490 500
PTEVTAIGAV EAAFKCCAAA IIVLTTTGRS AQLLSRYRPR AAVIAVTRSA
510 520 530 540 550
QAARQVHLCR GVFPLLYREP PEAIWADDVD RRVQFGIESG KLRGFLRVGD
560 570
LVIVVTGWRP GSGYTNIMRV LSIS
Length:574
Mass (Da):61,830
Last modified:May 30, 2000 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3B430896832032F5
GO
Isoform L-type (identifier: P30613-2) [UniParc]FASTAAdd to basket
Also known as: PKL

The sequence of this isoform differs from the canonical sequence as follows:
     1-33: MSIQENISSLQLRSWVSKSQRDLAKSILIGAPG → ME

Show »
Length:543
Mass (Da):58,494
Checksum:iCA16D3984B868D9E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W6W2F8W6W2_HUMAN
Pyruvate kinase PKLR
PKLR
161Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JLC7A0A0G2JLC7_HUMAN
Pyruvate kinase PKLR
PKLR
46Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA02515 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti381P → A in BAA02515 (Ref. 3) Curated1
Sequence conflicti423A → R in AAA60104 (PubMed:3126495).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01143537G → E in PKHYP. 1 PublicationCorresponds to variant dbSNP:rs118204087EnsemblClinVar.1
Natural variantiVAR_05846740R → W in PKRD. 1 PublicationCorresponds to variant dbSNP:rs1484388413Ensembl.1
Natural variantiVAR_05846848 – 53Missing in PKRD. 1 Publication6
Natural variantiVAR_05846973L → P in PKRD. 1 Publication1
Natural variantiVAR_01143680S → P in PKRD. 1
Natural variantiVAR_01143786R → P in PKRD. 1
Natural variantiVAR_01143890I → N in PKRD. 1 Publication1
Natural variantiVAR_01143995G → R in PKRD. Corresponds to variant dbSNP:rs750857114Ensembl.1
Natural variantiVAR_004028107M → T in PKRD. 1
Natural variantiVAR_011440111G → R in PKRD. 1 PublicationCorresponds to variant dbSNP:rs918627824Ensembl.1
Natural variantiVAR_011441115A → P in PKRD; Val de Marne. 1
Natural variantiVAR_011442120S → F in PKRD; Beaujon. 1
Natural variantiVAR_011443130S → Y in PKRD; Conakry. 1 PublicationCorresponds to variant dbSNP:rs118204089EnsemblClinVar.1
Natural variantiVAR_004029131Missing in PKRD. 1
Natural variantiVAR_004030134V → D in PKRD. 1 PublicationCorresponds to variant dbSNP:rs574051756Ensembl.1
Natural variantiVAR_011474153I → T in PKRD. 1
Natural variantiVAR_058470154A → T in PKRD. 1 PublicationCorresponds to variant dbSNP:rs780192373Ensembl.1
Natural variantiVAR_004031155L → P in PKRD. 1 Publication1
Natural variantiVAR_011444159G → V in PKRD. Corresponds to variant dbSNP:rs1239029841Ensembl.1
Natural variantiVAR_004033163R → C in PKRD; Linz. 1 PublicationCorresponds to variant dbSNP:rs118204083EnsemblClinVar.1
Natural variantiVAR_058471163R → L in PKRD. 1 Publication1
Natural variantiVAR_058472165G → V in PKRD. 1 Publication1
Natural variantiVAR_004032172E → Q in PKRD; Sassari. 1 PublicationCorresponds to variant dbSNP:rs757359024Ensembl.1
Natural variantiVAR_011475219I → T in PKRD. Corresponds to variant dbSNP:rs200572803Ensembl.1
Natural variantiVAR_004034221D → DD in PKRD. 1
Natural variantiVAR_011445222G → A in PKRD; Katsushika. 1
Natural variantiVAR_011447263G → R in PKRD. Corresponds to variant dbSNP:rs1253386414Ensembl.1
Natural variantiVAR_011448263G → W in PKRD. 1
Natural variantiVAR_058473272L → V in PKRD. 1 PublicationCorresponds to variant dbSNP:rs147659527Ensembl.1
Natural variantiVAR_004035275G → R in PKRD. Corresponds to variant dbSNP:rs747549978Ensembl.1
Natural variantiVAR_004036281D → N in PKRD. 1
Natural variantiVAR_004037287F → V in PKRD. 1
Natural variantiVAR_011449288V → L in PKRD; Moriguchi. 1
Natural variantiVAR_011446293D → N in PKRD. Corresponds to variant dbSNP:rs1352610988Ensembl.1
Natural variantiVAR_011450295A → V in PKRD. Corresponds to variant dbSNP:rs766353400Ensembl.1
Natural variantiVAR_011451310I → N in PKRD; Dordrecht. 1 Publication1
Natural variantiVAR_004038314I → T in PKRD; Hong Kong. Corresponds to variant dbSNP:rs981505482Ensembl.1
Natural variantiVAR_011452315E → K in PKRD. 1
Natural variantiVAR_058474320V → L in PKRD. 1 PublicationCorresponds to variant dbSNP:rs549295725Ensembl.1
Natural variantiVAR_004039331D → E in PKRD; Parma. 1 PublicationCorresponds to variant dbSNP:rs138476691Ensembl.1
Natural variantiVAR_011453331D → N in PKRD. Corresponds to variant dbSNP:rs773893686Ensembl.1
Natural variantiVAR_004040332G → S in PKRD; loss of catalytical activity. 3 PublicationsCorresponds to variant dbSNP:rs773626254Ensembl.1
Natural variantiVAR_011476335V → M in PKRD. 1 Publication1
Natural variantiVAR_004041336A → S in PKRD. 1 Publication1
Natural variantiVAR_004042337R → P in PKRD. 1 Publication1
Natural variantiVAR_004043337R → Q in PKRD. 1 PublicationCorresponds to variant dbSNP:rs1167329263Ensembl.1
Natural variantiVAR_004044339D → H in PKRD. 1 PublicationCorresponds to variant dbSNP:rs747097960Ensembl.1
Natural variantiVAR_004045341G → A in PKRD. 2 PublicationsCorresponds to variant dbSNP:rs1227427396Ensembl.1
Natural variantiVAR_011454341G → D in PKRD. 1
Natural variantiVAR_011455342I → F in PKRD. 1
Natural variantiVAR_011456348K → N in PKRD; Kamata. 1
Natural variantiVAR_011457348Missing in PKRD; Brescia. 1 Publication1
Natural variantiVAR_011477352A → D in PKRD. Corresponds to variant dbSNP:rs1240481888Ensembl.1
Natural variantiVAR_004046354Missing in PKRD. 1 Publication1
Natural variantiVAR_004047357I → T in PKRD. 1 PublicationCorresponds to variant dbSNP:rs779152555Ensembl.1
Natural variantiVAR_058475358G → E in PKRD. 1 Publication1
Natural variantiVAR_004048359R → C in PKRD; Aomori. Corresponds to variant dbSNP:rs138871700Ensembl.1
Natural variantiVAR_004049359R → H in PKRD. 1 PublicationCorresponds to variant dbSNP:rs1376070580Ensembl.1
Natural variantiVAR_004050361N → D in PKRD. 1 PublicationCorresponds to variant dbSNP:rs765903674Ensembl.1
Natural variantiVAR_011458364G → D in PKRD; Tjaereborg; unstability of the protein and decrease in catalytic activity. 1 PublicationCorresponds to variant dbSNP:rs981579065Ensembl.1
Natural variantiVAR_004051368V → F in PKRD; Osaka. 1 Publication1
Natural variantiVAR_058476374L → P in PKRD. 1 Publication1
Natural variantiVAR_011459376S → I in PKRD. 1
Natural variantiVAR_004052384T → M in PKRD; Tokyo/Beirut; most common mutation in Japanese population; no conformational change. 3 PublicationsCorresponds to variant dbSNP:rs74315362EnsemblClinVar.1
Natural variantiVAR_011478385R → W in PKRD. 1
Natural variantiVAR_011460387E → G in PKRD. 1 Publication1
Natural variantiVAR_011461390D → N in PKRD; Mantova; almost complete inactivation. 1 PublicationCorresponds to variant dbSNP:rs147034239Ensembl.1
Natural variantiVAR_004053392A → T in PKRD. 1 PublicationCorresponds to variant dbSNP:rs1403323591Ensembl.1
Natural variantiVAR_004054393N → K in PKRD. 1 PublicationCorresponds to variant dbSNP:rs1168490341Ensembl.1
Natural variantiVAR_004055393N → S in PKRD; Paris. 1 PublicationCorresponds to variant dbSNP:rs776594413Ensembl.1
Natural variantiVAR_011462394A → D in PKRD. 1 PublicationCorresponds to variant dbSNP:rs1035640530Ensembl.1
Natural variantiVAR_011463394A → V in PKRD. 1 Publication1
Natural variantiVAR_004056401C → CS in PKRD. 1
Natural variantiVAR_011464408T → A in PKRD; Hirosaki. 1
Natural variantiVAR_004057408T → I in PKRD. 1 Publication1
Natural variantiVAR_004058421Q → K in PKRD; Fukushima/Maebashi/Sendai. 1 PublicationCorresponds to variant dbSNP:rs118204084EnsemblClinVar.1
Natural variantiVAR_004059426R → Q in PKRD; Sapporo. 1 PublicationCorresponds to variant dbSNP:rs768002493Ensembl.1
Natural variantiVAR_004060426R → W in PKRD; Naniwa. Corresponds to variant dbSNP:rs1023689443Ensembl.1
Natural variantiVAR_011465427E → A in PKRD. 1
Natural variantiVAR_011466427E → D in PKRD. 1
Natural variantiVAR_004061431A → T in PKRD. 1 PublicationCorresponds to variant dbSNP:rs762591322Ensembl.1
Natural variantiVAR_004062458G → D in PKRD. 1 PublicationCorresponds to variant dbSNP:rs755522396Ensembl.1
Natural variantiVAR_004063459A → V in PKRD. 1
Natural variantiVAR_004064460V → M in PKRD. 1 PublicationCorresponds to variant dbSNP:rs752034960Ensembl.1
Natural variantiVAR_011479468A → G in PKRD. Corresponds to variant dbSNP:rs750540943Ensembl.1
Natural variantiVAR_004065468A → V in PKRD; Hadano. 1
Natural variantiVAR_011467477T → A in PKRD. Corresponds to variant dbSNP:rs759466273Ensembl.1
Natural variantiVAR_011480479R → H in PKRD; Amish; no conformational change. 2 PublicationsCorresponds to variant dbSNP:rs118204085EnsemblClinVar.1
Natural variantiVAR_011468485S → F in PKRD. 1
Natural variantiVAR_004066486R → W in PKRD; frequent mutation; no conformational change. 4 PublicationsCorresponds to variant dbSNP:rs116100695EnsemblClinVar.1
Natural variantiVAR_011469488R → Q in PKRD. Corresponds to variant dbSNP:rs369183199EnsemblClinVar.1
Natural variantiVAR_004067490R → W in PKRD. Corresponds to variant dbSNP:rs200133000EnsemblClinVar.1
Natural variantiVAR_011470495A → T in PKRD. 1
Natural variantiVAR_004068495A → V in PKRD. 1 PublicationCorresponds to variant dbSNP:rs141560532Ensembl.1
Natural variantiVAR_004069498R → C in PKRD. 1 PublicationCorresponds to variant dbSNP:rs551883218Ensembl.1
Natural variantiVAR_004070498R → H in PKRD. 2 PublicationsCorresponds to variant dbSNP:rs758327704Ensembl.1
Natural variantiVAR_011471504R → L in PKRD; instability of the protein. 1 PublicationCorresponds to variant dbSNP:rs185753709Ensembl.1
Natural variantiVAR_018848506V → I1 PublicationCorresponds to variant dbSNP:rs8177988EnsemblClinVar.1
Natural variantiVAR_004071510R → Q in PKRD; the most common mutation in European population. 3 PublicationsCorresponds to variant dbSNP:rs113403872EnsemblClinVar.1
Natural variantiVAR_011472511G → R in PKRD. 1
Natural variantiVAR_011473531R → C in PKRD. 1
Natural variantiVAR_004072532R → Q in PKRD. 1 PublicationCorresponds to variant dbSNP:rs758278200Ensembl.1
Natural variantiVAR_004073532R → W in PKRD; Complete loss in the responsiveness to fructose 1,6-bisphosphate, FBP. 2 PublicationsCorresponds to variant dbSNP:rs201255024Ensembl.1
Natural variantiVAR_004074552V → M in PKRD. Corresponds to variant dbSNP:rs370316462Ensembl.1
Natural variantiVAR_011481557G → A in PKRD. 1
Natural variantiVAR_004075559R → G in PKRD. 1
Natural variantiVAR_004076566N → K in PKRD. 1
Natural variantiVAR_011482569R → Q in PKRD. 1 PublicationCorresponds to variant dbSNP:rs61755431Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0028831 – 33MSIQE…IGAPG → ME in isoform L-type. CuratedAdd BLAST33

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB015983 mRNA Translation: BAA31706.1
M15465 mRNA Translation: AAA60104.1
D13243 Genomic DNA Translation: BAA02515.1 Sequence problems.
AY316591 Genomic DNA Translation: AAP69527.1
BC025737 mRNA Translation: AAH25737.1
S60712 mRNA Translation: AAB26262.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1109.1 [P30613-1]
CCDS44240.1 [P30613-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
I52269 KIHUPR

NCBI Reference Sequences

More...
RefSeqi
NP_000289.1, NM_000298.5 [P30613-1]
NP_870986.1, NM_181871.3 [P30613-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.95990

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000342741; ENSP00000339933; ENSG00000143627 [P30613-1]
ENST00000392414; ENSP00000376214; ENSG00000143627 [P30613-2]
ENST00000571194; ENSP00000461487; ENSG00000262785 [P30613-2]
ENST00000572740; ENSP00000459921; ENSG00000262785 [P30613-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
5313

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5313

UCSC genome browser

More...
UCSCi
uc001fka.5 human [P30613-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs
Wikipedia

Pyruvate kinase entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB015983 mRNA Translation: BAA31706.1
M15465 mRNA Translation: AAA60104.1
D13243 Genomic DNA Translation: BAA02515.1 Sequence problems.
AY316591 Genomic DNA Translation: AAP69527.1
BC025737 mRNA Translation: AAH25737.1
S60712 mRNA Translation: AAB26262.1
CCDSiCCDS1109.1 [P30613-1]
CCDS44240.1 [P30613-2]
PIRiI52269 KIHUPR
RefSeqiNP_000289.1, NM_000298.5 [P30613-1]
NP_870986.1, NM_181871.3 [P30613-2]
UniGeneiHs.95990

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2VGBX-ray2.73A/B/C/D47-574[»]
2VGFX-ray2.75A/B/C/D47-574[»]
2VGGX-ray2.74A/B/C/D47-574[»]
2VGIX-ray2.87A/B/C/D47-574[»]
4IMAX-ray1.95A/B/C/D34-574[»]
4IP7X-ray1.80A/B/C/D34-574[»]
ProteinModelPortaliP30613
SMRiP30613
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111330, 15 interactors
ComplexPortaliCPX-3094 PKL pyruvate kinase complex [P30613-2]
CPX-3095 PKR pyruvate kinase complex [P30613-1]
IntActiP30613, 7 interactors
STRINGi9606.ENSP00000339933

Chemistry databases

BindingDBiP30613
ChEMBLiCHEMBL1075126
DrugBankiDB02726 2-Phosphoglycolic Acid
DB00119 Pyruvic acid

PTM databases

iPTMnetiP30613
PhosphoSitePlusiP30613
SwissPalmiP30613

Polymorphism and mutation databases

BioMutaiPKLR

2D gel databases

REPRODUCTION-2DPAGEiP30613
SWISS-2DPAGEiP30613

Proteomic databases

jPOSTiP30613
MaxQBiP30613
PaxDbiP30613
PeptideAtlasiP30613
PRIDEiP30613
ProteomicsDBi54725
54726 [P30613-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
5313
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000342741; ENSP00000339933; ENSG00000143627 [P30613-1]
ENST00000392414; ENSP00000376214; ENSG00000143627 [P30613-2]
ENST00000571194; ENSP00000461487; ENSG00000262785 [P30613-2]
ENST00000572740; ENSP00000459921; ENSG00000262785 [P30613-1]
GeneIDi5313
KEGGihsa:5313
UCSCiuc001fka.5 human [P30613-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5313
DisGeNETi5313
EuPathDBiHostDB:ENSG00000143627.17

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PKLR
HGNCiHGNC:9020 PKLR
HPAiCAB034376
CAB034378
HPA006653
MalaCardsiPKLR
MIMi102900 phenotype
266200 phenotype
609712 gene
neXtProtiNX_P30613
OpenTargetsiENSG00000143627
Orphaneti766 Hemolytic anemia due to red cell pyruvate kinase deficiency
PharmGKBiPA33352

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2323 Eukaryota
COG0469 LUCA
GeneTreeiENSGT00390000008859
HOGENOMiHOG000021559
HOVERGENiHBG000941
InParanoidiP30613
KOiK12406
OMAiMEGPAGY
OrthoDBi1377476at2759
PhylomeDBiP30613
TreeFamiTF300390

Enzyme and pathway databases

UniPathwayi
UPA00109;UER00188

BioCyciMetaCyc:HS07088-MONOMER
BRENDAi2.7.1.40 2681
ReactomeiR-HSA-163765 ChREBP activates metabolic gene expression
R-HSA-210745 Regulation of gene expression in beta cells
R-HSA-70171 Glycolysis
SABIO-RKiP30613

Miscellaneous databases

EvolutionaryTraceiP30613

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PKLR

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
5313
PMAP-CutDBiP30613

Protein Ontology

More...
PROi
PR:P30613

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000143627 Expressed in 129 organ(s), highest expression level in liver
CleanExiHS_PKLR
ExpressionAtlasiP30613 baseline and differential
GenevisibleiP30613 HS

Family and domain databases

CDDicd00288 Pyruvate_Kinase, 1 hit
Gene3Di2.40.33.10, 1 hit
3.20.20.60, 1 hit
3.40.1380.20, 1 hit
InterProiView protein in InterPro
IPR001697 Pyr_Knase
IPR015813 Pyrv/PenolPyrv_Kinase-like_dom
IPR040442 Pyrv_Kinase-like_dom_sf
IPR011037 Pyrv_Knase-like_insert_dom_sf
IPR018209 Pyrv_Knase_AS
IPR015793 Pyrv_Knase_brl
IPR015795 Pyrv_Knase_C
IPR036918 Pyrv_Knase_C_sf
IPR015806 Pyrv_Knase_insert_dom_sf
PANTHERiPTHR11817 PTHR11817, 1 hit
PfamiView protein in Pfam
PF00224 PK, 1 hit
PF02887 PK_C, 1 hit
PRINTSiPR01050 PYRUVTKNASE
SUPFAMiSSF50800 SSF50800, 1 hit
SSF51621 SSF51621, 1 hit
SSF52935 SSF52935, 1 hit
TIGRFAMsiTIGR01064 pyruv_kin, 1 hit
PROSITEiView protein in PROSITE
PS00110 PYRUVATE_KINASE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKPYR_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P30613
Secondary accession number(s): O75758, P11973
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: May 30, 2000
Last modified: January 16, 2019
This is version 221 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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