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UniProtKB - P30613 (KPYR_HUMAN)

Protein

Pyruvate kinase PKLR

Gene

PKLR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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.

Catalytic activityi

ATP + pyruvate = ADP + phosphoenolpyruvate.

Cofactori

Protein has several cofactor binding sites:

Activity regulationi

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

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 (epd), Glyceraldehyde-3-phosphate dehydrogenase, Glyceraldehyde-3-phosphate dehydrogenase (HEL-S-278), Glyceraldehyde-3-phosphate dehydrogenase (HEL-S-162eP)
  2. Phosphoglycerate kinase 1 (PGK1), Phosphoglycerate kinase 2 (PGK2), Phosphoglycerate kinase, Phosphoglycerate kinase, Phosphoglycerate kinase, Phosphoglycerate kinase (pgk), Phosphoglycerate kinase, Phosphoglycerate kinase (HEL-S-68p), Phosphoglycerate kinase (HEL-S-272), Phosphoglycerate kinase
  3. no protein annotated in this organism
  4. Gamma-enolase (ENO2), Alpha-enolase (ENO1), Enolase 4 (ENO4), Beta-enolase (ENO3)
  5. Pyruvate kinase PKM (PKM), Pyruvate kinase PKLR (PKLR), Pyruvate kinase (PKM), Pyruvate kinase (PKM2), Pyruvate kinase (PKM), Pyruvate kinase (PKM2), Pyruvate kinase, Pyruvate kinase (PKM), Pyruvate kinase (PKM2), Pyruvate kinase, Pyruvate kinase (pyk), Pyruvate kinase (PKM), Pyruvate kinase, Pyruvate kinase (HEL-S-30), Pyruvate kinase, 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
Binding sitei116SubstrateCombined sources1 Publication1
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
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

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

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

Enzyme and pathway databases

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
UniPathwayi
UPA00109;UER00188

Names & Taxonomyi

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
Gene namesi
Name:PKLR
Synonyms:PK1, PKL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000143627.17
HGNCiHGNC:9020 PKLR
MIMi609712 gene
neXtProtiNX_P30613

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

Pathology & Biotechi

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
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. 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. 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. 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 Publication1
Natural variantiVAR_004045341G → A in PKRD. 2 Publications1
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 Publication1
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 Publication1
Natural variantiVAR_004054393N → K in PKRD. 1 Publication1
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

DisGeNETi5313
MalaCardsiPKLR
MIMi102900 phenotype
266200 phenotype
OpenTargetsiENSG00000143627
Orphaneti766 Hemolytic anemia due to red cell pyruvate kinase deficiency
PharmGKBiPA33352

Chemistry databases

ChEMBLiCHEMBL1075126
DrugBankiDB02726 2-Phosphoglycolic Acid
DB00119 Pyruvic acid

Polymorphism and mutation databases

BioMutaiPKLR

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001120941 – 574Pyruvate kinase PKLRAdd BLAST574

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2PhosphoserineCombined sources1
Modified residuei19PhosphoserineCombined sources1
Modified residuei26PhosphoserineCombined sources1
Modified residuei43PhosphoserineCombined sources1
Modified residuei292PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP30613
PaxDbiP30613
PeptideAtlasiP30613
PRIDEiP30613
ProteomicsDBi54725
54726 [P30613-2]

2D gel databases

REPRODUCTION-2DPAGEiP30613
SWISS-2DPAGEiP30613

PTM databases

iPTMnetiP30613
PhosphoSitePlusiP30613
SwissPalmiP30613

Miscellaneous databases

PMAP-CutDBiP30613

Expressioni

Gene expression databases

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

Organism-specific databases

HPAiCAB034376
CAB034378
HPA006653

Interactioni

Subunit structurei

Homotetramer.1 Publication

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

Structurei

Secondary structure

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

3D structure databases

ProteinModelPortaliP30613
SMRiP30613
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP30613

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni475 – 480Allosteric activator bindingCombined sources1 Publication6
Regioni559 – 564Allosteric activator bindingCombined sources1 Publication6

Sequence similaritiesi

Belongs to the pyruvate kinase family.Curated

Phylogenomic databases

eggNOGiKOG2323 Eukaryota
COG0469 LUCA
GeneTreeiENSGT00390000008859
HOGENOMiHOG000021559
HOVERGENiHBG000941
InParanoidiP30613
KOiK12406
OMAiMEGPAGY
OrthoDBiEOG091G0597
PhylomeDBiP30613
TreeFamiTF300390

Family and domain databases

CDDicd00288 Pyruvate_Kinase, 1 hit
Gene3Di2.40.33.10, 1 hit
3.40.1380.20, 1 hit
InterProiView protein in InterPro
IPR001697 Pyr_Knase
IPR015813 Pyrv/PenolPyrv_Kinase-like_dom
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

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 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
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

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:
A0A0G2JLC7A0A0G2JLC7_HUMAN
Pyruvate kinase PKLR
PKLR
46Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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. 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. 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. 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 Publication1
Natural variantiVAR_004045341G → A in PKRD. 2 Publications1
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 Publication1
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 Publication1
Natural variantiVAR_004054393N → K in PKRD. 1 Publication1
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
Alternative sequenceiVSP_0028831 – 33MSIQE…IGAPG → ME in isoform L-type. CuratedAdd BLAST33

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

Genome annotation databases

EnsembliENST00000342741; ENSP00000339933; ENSG00000143627 [P30613-1]
ENST00000392414; ENSP00000376214; ENSG00000143627 [P30613-2]
ENST00000571194; ENSP00000461487; ENSG00000262785 [P30613-2]
ENST00000572740; ENSP00000459921; ENSG00000262785 [P30613-1]
ENST00000646151; ENSP00000496762; ENSG00000143627 [P30613-2]
GeneIDi5313
KEGGihsa:5313
UCSCiuc001fka.5 human [P30613-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

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

MaxQBiP30613
PaxDbiP30613
PeptideAtlasiP30613
PRIDEiP30613
ProteomicsDBi54725
54726 [P30613-2]

Protocols and materials databases

DNASUi5313
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]
ENST00000646151; ENSP00000496762; ENSG00000143627 [P30613-2]
GeneIDi5313
KEGGihsa:5313
UCSCiuc001fka.5 human [P30613-1]

Organism-specific databases

CTDi5313
DisGeNETi5313
EuPathDBiHostDB:ENSG00000143627.17
GeneCardsiPKLR
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
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2323 Eukaryota
COG0469 LUCA
GeneTreeiENSGT00390000008859
HOGENOMiHOG000021559
HOVERGENiHBG000941
InParanoidiP30613
KOiK12406
OMAiMEGPAGY
OrthoDBiEOG091G0597
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
GeneWikiiPKLR
GenomeRNAii5313
PMAP-CutDBiP30613
PROiPR:P30613
SOURCEiSearch...

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
3.40.1380.20, 1 hit
InterProiView protein in InterPro
IPR001697 Pyr_Knase
IPR015813 Pyrv/PenolPyrv_Kinase-like_dom
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
ProtoNetiSearch...

Entry informationi

Entry nameiKPYR_HUMAN
AccessioniPrimary (citable) accession number: P30613
Secondary accession number(s): O75758, P11973
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: May 30, 2000
Last modified: November 7, 2018
This is version 219 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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

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