Pyruvate kinase PKLR

Pyruvate kinase PKLR is an enzyme that in humans is encoded by the PKLR gene.^[5][6]

PDBOrtholog search: PDBe RCSB

AliasesPKLR, PK1, PKL, PKR, PKRL, RPK, pyruvate kinase, liver and RBC, pyruvate kinase L/R

External IDsOMIM: 609712; MGI: 97604; HomoloGene: 37286; GeneCards: PKLR; OMA:PKLR - orthologs

Chr.Chromosome 1 (human)^[1]

Quick facts PKLR, Available structures ...

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, pyruvate kinase L/R
External IDs	OMIM: 609712; MGI: 97604; HomoloGene: 37286; GeneCards: PKLR; OMA:PKLR - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q22 Start 155,289,293 bp[1] End 155,301,438 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 F1|3 39.01 cM Start 89,043,449 bp[2] End 89,054,091 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in liver right lobe of liver duodenum bone marrow bone marrow cell renal cortex cerebellum cerebellar cortex cerebellar hemisphere human kidney Top expressed in fetal liver hematopoietic progenitor cell jejunum yolk sac duodenum left lobe of liver ileum intestinal villus epithelium of small intestine Ileal epithelium lumbar subsegment of spinal cord More reference expression data BioGPS 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 3: 89.04 – 89.05 Mb PubMed search [3] [4]
Wikidata
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The protein encoded by this gene is a pyruvate kinase that catalyzes the production of pyruvate and ATP from phosphoenolpyruvate. 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.^[6]