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


RefSeq Accession Definition Services Price Order
NM_000298 Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. ORF Sequence $500.25
Peptide Services
Antibody Services
Protein Services
NM_181871 Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. ORF Sequence $473.28
Peptide Services
Antibody Services
Protein Services


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, 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 isozymes R/L isoform 1 Full Length $1068.55
ORF Sequence $500.25
NM_181871, 189095250 NP_870986, 32967597 pyruvate kinase isozymes R/L isoform 2 Full Length $1062.25
ORF Sequence $473.28
KEGG
hsa00010Glycolysis / Gluconeogenesis
hsa00230Purine metabolism
hsa04930Type II diabetes mellitus
hsa_M00049Adenine ribonucleotide biosynthesis, IMP => ADP,ATP
hsa04950Maturity onset diabetes of the young
hsa00620Pyruvate metabolism
hsa04910Insulin signaling pathway
hsa_M00050Guanine ribonucleotide biosynthesis IMP => GDP,GTP
WikiPathways
WP534Glycolysis and Gluconeogenesis
Pathway Interaction Database
hnf3bpathwayFOXA2 and FOXA3 transcription factor networks
BIOCYC
HUMAN_GLYCOLYSISglycolysis I
Reactome
REACT_2122ChREBP activates metabolic gene expression
REACT_723Glucose metabolism
REACT_13819Regulation of gene expression in beta cells
REACT_111217Metabolism
REACT_474Metabolism of carbohydrates
REACT_1505Integration of energy metabolism
REACT_111045Developmental Biology
REACT_13698Regulation of beta-cell development
REACT_1383Glycolysis
Homo sapiens (human)PKLRNP_000289.1
Pan troglodytes (chimpanzee)PKLRXP_524896.4
Macaca mulatta (Rhesus monkey)PKLRXP_001112902.2
Canis lupus familiaris (dog)PKLRXP_547547.2
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
GeneCards PKLR
PDB 2VGF, 4IMA, 2VGG, 4IP7, 2VGI, 2VGB
UniProt P30613
MIM 609712
Ensembl ENSG00000143627
HGNC 9020
HPRD 11841

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

General protein information

Interactant

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