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PKLR pyruvate kinase, liver and RBC [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu26995 NM_000298 Homo sapiens pyruvate kinase, liver and RBC (PKLR), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu27268 NM_181871 Homo sapiens pyruvate kinase, liver and RBC (PKLR), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu34475 XM_005245266 PREDICTED: Homo sapiens pyruvate kinase, liver and RBC (PKLR), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu34476 XM_006711386 PREDICTED: Homo sapiens pyruvate kinase, liver and RBC (PKLR), transcript variant X2, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu34476 XM_006726212 PREDICTED: Homo sapiens pyruvate kinase, liver and RBC (PKLR), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu26995C NM_000298 Homo sapiens pyruvate kinase, liver and RBC (PKLR), transcript variant 1, mRNA. Customized vector On-demand 7-9 $269.00
OHu27268C NM_181871 Homo sapiens pyruvate kinase, liver and RBC (PKLR), transcript variant 2, mRNA. Customized vector On-demand 7-9 $269.00
OHu34475C XM_005245266 PREDICTED: Homo sapiens pyruvate kinase, liver and RBC (PKLR), transcript variant X1, mRNA. Customized vector On-demand 7-9 $269.00
OHu34476C XM_006711386 PREDICTED: Homo sapiens pyruvate kinase, liver and RBC (PKLR), transcript variant X2, mRNA. Customized vector On-demand 7-9 $269.00
OHu34476C XM_006726212 PREDICTED: Homo sapiens pyruvate kinase, liver and RBC (PKLR), transcript variant X1, mRNA. Customized vector On-demand 7-9 $269.00

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Gene Symbol PKLR
Entrez Gene ID 5313
Full Name pyruvate kinase, liver and RBC
Synonyms PK1, PKL, PKR, PKRL, RPK
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1q21

Summary The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Disorder

MIM: 609712

Pyruvate kinase deficiency, 266200 (3); Adenosine triphosphate,

mRNA Protein Product Sequence Price Select
NM_000298, 189095249 NP_000289, 10835121 pyruvate kinase PKLR isoform 1 ORF Sequence $700.00
NM_181871, 189095250 NP_870986, 32967597 pyruvate kinase PKLR isoform 2 ORF Sequence $550.00
XM_005245266, 578801112 XP_005245323, 530364927 pyruvate kinase PKLR isoform X1 ORF Sequence $700.00
XM_006711386, 578801113 XP_006711449, 578801114 pyruvate kinase PKLR isoform X2 ORF Sequence $550.00
XM_006726212, 578839333 XP_006726275, 578839334 pyruvate kinase PKLR isoform X1 ORF Sequence $550.00
KEGG
hsa00010Glycolysis / Gluconeogenesis
hsa00230Purine metabolism
hsa00620Pyruvate metabolism
hsa04910Insulin signaling pathway
hsa04930Type II diabetes mellitus
hsa04950Maturity onset diabetes of the young
hsa_M00002Glycolysis, core module involving three-carbon compounds
hsa_M00001Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate
hsa01230Biosynthesis of amino acids
hsa01200Carbon metabolism
hsa04932Non-alcoholic fatty liver disease (NAFLD)
hsa_M00049Adenine ribonucleotide biosynthesis, IMP => ADP,ATP
hsa_M00050Guanine ribonucleotide biosynthesis IMP => GDP,GTP
WikiPathways
WP534Glycolysis and Gluconeogenesis
Pathway Interaction Database
hnf3bpathwayFOXA2 and FOXA3 transcription factor networks
BIOCYC
META_ANAEROFRUCAT-PWYhomolactic fermentation
HUMAN_GLYCOLYSISglycolysis I
META_PWY66-400glycolysis VI (metazoan)
Reactome
REACT_1383Glycolysis
REACT_1505Integration of energy metabolism
REACT_474Metabolism of carbohydrates
REACT_723Glucose metabolism
REACT_2122ChREBP activates metabolic gene expression
REACT_13698Regulation of beta-cell development
REACT_13819Regulation of gene expression in beta cells
REACT_111217Metabolism
REACT_111045Developmental Biology
REACT_116125Disease
REACT_200783Myoclonic epilepsy of Lafora
REACT_200833Glycogen storage diseases
Homo sapiens (human)PKLRNP_000289.1
Pan troglodytes (chimpanzee)PKLRXP_524896.4
Macaca mulatta (Rhesus monkey)PKLRXP_001112902.2
Canis lupus familiaris (dog)PKLRNP_001243191.1
Bos taurus (cattle)PKLRNP_001069644.1
Mus musculus (house mouse)PklrNP_038659.2
Rattus norvegicus (Norway rat)PklrNP_036756.3
Danio rerio (zebrafish)pklrNP_958446.1
Arabidopsis thaliana (thale cress)AT3G04050NP_187055.1
Arabidopsis thaliana (thale cress)AT3G55650NP_191124.1
Arabidopsis thaliana (thale cress)AT3G25960NP_189225.1
Arabidopsis thaliana (thale cress)AT3G55810NP_191140.1
Process
IDNameEvidence
GO:0001666response to hypoxiaIEA
GO:0005975carbohydrate metabolic processTAS
GO:0006006glucose metabolic processTAS
GO:0006096glycolytic processIEA
GO:0006096glycolytic processTAS
GO:0006112energy reserve metabolic processTAS
GO:0006754ATP biosynthetic processIEA
GO:0007584response to nutrientIEA
GO:0009408response to heatIEA
GO:0009749response to glucoseIEA
GO:0010226response to lithium ionIEA
GO:0016310phosphorylationIEA
GO:0031018endocrine pancreas developmentTAS
GO:0031325positive regulation of cellular metabolic processTAS
GO:0032869cellular response to insulin stimulusIEA
GO:0033198response to ATPIEA
GO:0042866pyruvate biosynthetic processIEA
GO:0044281small molecule metabolic processTAS
GO:0051591response to cAMPIEA
GO:0051707response to other organismIEA
Component
IDNameEvidence
GO:0005829cytosolTAS
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0000287magnesium ion bindingIEA
GO:0004743pyruvate kinase activityIEA
GO:0005524ATP bindingIEA
GO:0030955potassium ion bindingIEA
GeneCards PKLR
UniProt P30613
Vega OTTHUMG00000035875
MIM 609712
Ensembl ENSG00000143627
HGNC 9020
HPRD 11841

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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