PKLR

PKLR
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2VGB, 2VGF, 2VGG, 2VGI, 4IMA, 4IP7
Identifiers
Aliases	PKLR, PK1, PKL, PKR, PKRL, RPK, pyruvate kinase, liver and RBC
External IDs	MGI: 97604 HomoloGene: 37286 GeneCards: PKLR
Gene location (Human) Chr. Chromosome 1 (human) Band 1q22 Start 155,289,839 bp End 155,301,434 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3 F1|3 39.01 cM Start 89,136,142 bp End 89,146,784 bp
RNA expression pattern More reference expression data
Gene ontology Molecular function • transferase activity • nucleotide binding • potassium ion binding • metal ion binding • kinase activity • catalytic activity • ATP binding • magnesium ion binding • pyruvate kinase activity Cellular component • cytosol • extracellular exosome • cytoplasm Biological process • response to ATP • response to hypoxia • phosphorylation • response to nutrient • canonical glycolysis • response to metal ion • pyruvate biosynthetic process • response to heat • response to glucose • response to lithium ion • ATP biosynthetic process • metabolism • response to cAMP • glycolytic process • cellular response to insulin stimulus • cellular response to epinephrine stimulus • carbohydrate metabolic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	5313	18770
Ensembl	ENSG00000262785 ENSG00000143627	ENSMUSG00000041237
UniProt	P30613	P53657
RefSeq (mRNA)	NM_000298 NM_181871	NM_001099779 NM_013631
RefSeq (protein)	NP_000289 NP_870986	n/a
Location (UCSC)	Chr 1: 155.29 – 155.3 Mb	Chr 1: 89.14 – 89.15 Mb
PubMed search

2VGB, 2VGF, 2VGG, 2VGI, 4IMA, 4IP7

5313

18770

ENSG00000262785
ENSG00000143627

ENSMUSG00000041237

P30613

P53657

NM_000298
NM_181871

NM_001099779
NM_013631

NP_000289
NP_870986

n/a

Pyruvate kinase isozymes R/L is an enzyme that in humans is encoded by the PKLR gene.

The protein encoded by this gene is a pyruvate kinase that catalyzes the production of phosphoenolpyruvate from pyruvate and ATP. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Alternatively spliced transcript variants encoding distinct isoforms have been described.

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Wikipedia