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


RefSeq Accession Definition Sequence Price Select
NM_181871 Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. Full Length $1062.25
ORF Sequence $473.28
NM_000298 Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. Full Length $1068.55
ORF Sequence $500.25


Gene Symbol PKLR
Entrez Gene ID 5313
Full Name pyruvate kinase, liver and RBC
Synonyms PK1, PKL, PKR, PKRL, RPK
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].
Disorder

MIM: 609712

Pyruvate kinase deficiency, 266200 (3); Adenosine triphosphate,
mRNA NM_181871, 189095250
Protein NP_870986, 32967597
Product pyruvate kinase isozymes R/L isoform 2
RefSeq Status REVIEWED
mRNA NM_000298, 189095249
Protein NP_000289, 10835121
Product pyruvate kinase isozymes R/L isoform 1
RefSeq Status REVIEWED
KEGG
hsa00010Glycolysis / Gluconeogenesis
hsa00230Purine metabolism
hsa04930Type II diabetes mellitus
hsa04950Maturity onset diabetes of the young
hsa00620Pyruvate metabolism
hsa01100Metabolic pathways
hsa04910Insulin signaling pathway
WikiPathways
WP534Glycolysis and Gluconeogenesis
Pathway Interaction Database
hnf3bpathwayFOXA2 and FOXA3 transcription factor networks
Reactome
REACT_723Glucose metabolism
REACT_474Metabolism of carbohydrates
REACT_1505Integration of energy metabolism
REACT_13698Regulation of beta-cell development
REACT_1383Glycolysis
REACT_2122ChREBP activates metabolic gene expression
REACT_13819Regulation of gene expression in beta cells
Homo sapiens (human)PKLRNP_000289.1
Pan troglodytes (chimpanzee)PKLRXP_524896.2
Canis lupus familiaris (dog)PKLRXP_547547.2
Bos taurus (cattle)PKLRNP_001069644.1
Mus musculus (house mouse)PklrNP_038659.1
Rattus norvegicus (Norway rat)PklrNP_036756.2
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:0006096glycolysisTAS
GO:0006112energy reserve metabolic processTAS
GO:0006754ATP biosynthetic processIEA
GO:0007584response to nutrientIEA
GO:0009408response to heatIEA
GO:0009749response to glucose stimulusIEA
GO:0010226response to lithium ionIEA
GO:0014070response to organic cyclic compoundIEA
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:0051591response to cAMPIEA
GO:0051707response to other organismIEA
Component
IDNameEvidence
GO:0005625soluble fractionIEA
GO:0005829cytosolTAS
Function
IDNameEvidence
GO:0000166nucleotide bindingIEA
GO:0000287magnesium ion bindingIEA
GO:0004743pyruvate kinase activityIEA
GO:0005524ATP bindingIEA
GO:0016740transferase activityIEA
GO:0030955potassium ion bindingIEA
GeneCards PKLR
PDB 2VGF, 2VGG, 2VGI, 2VGB
UniProt P30613
MIM 609712
Ensembl ENSG00000143627
HGNC 9020
HPRD 11841

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