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Pklr pyruvate kinase liver and red blood cell [ Mus musculus (house mouse) ]

Gene ID: 18770, updated on 2-Nov-2024

Summary

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Official Symbol
Pklrprovided by MGI
Official Full Name
pyruvate kinase liver and red blood cellprovided by MGI
Primary source
MGI:MGI:97604
See related
Ensembl:ENSMUSG00000041237 AllianceGenome:MGI:97604
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Pk1; Pk-1; R-PK
Summary
Enables pyruvate kinase activity. Involved in glycolytic process. Acts upstream of or within response to other organism. Located in cytoplasm and plasma membrane. Is active in cytosol. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study malaria and pyruvate kinase deficiency of red cells. Human ortholog(s) of this gene implicated in Gaucher's disease; congenital nonspherocytic hemolytic anemia; malaria; pyruvate kinase deficiency of red cells; and type 2 diabetes mellitus. Orthologous to human PKLR (pyruvate kinase L/R). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in liver E14.5 (RPKM 90.1), duodenum adult (RPKM 85.4) and 9 other tissues See more
Orthologs
human all
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Genomic context

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See Pklr in Genome Data Viewer
Location:
3 F1; 3 39.01 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (89043429..89054122)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (89136122..89146815)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E2078 Neighboring gene farnesyl diphosphate synthetase Neighboring gene predicted gene, 22935 Neighboring gene predicted gene, 29704 Neighboring gene STARR-seq mESC enhancer starr_08224 Neighboring gene hyperpolarization-activated, cyclic nucleotide-gated K+ 3 Neighboring gene predicted gene, 45927 Neighboring gene CDC-like kinase 2 Neighboring gene STARR-positive B cell enhancer ABC_E2079 Neighboring gene secretory carrier membrane protein 3 Neighboring gene predicted gene 16069 Neighboring gene endosomal transmembrane epsin interactor 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Discovery of therapeutic agents targeting PKLR for NAFLD using drug repositioning. Zhang C, et al. EBioMedicine, 2022 Sep. PMID 35988463, Free PMC Article
  2. Pyruvate kinase deficiency: correlation between enzyme activity, extent of hemolytic anemia and protection against malaria in independent mouse mutants. Min-Oo G, et al. Blood Cells Mol Dis, 2007 Jul-Aug. PMID 17466543
  3. Transgenic rescue of hemolytic anemia due to red blood cell pyruvate kinase deficiency. Kanno H, et al. Haematologica, 2007 Jun. PMID 17550844
  4. Glycolytic inhibition by mutation of pyruvate kinase gene increases oxidative stress and causes apoptosis of a pyruvate kinase deficient cell line. Aisaki K, et al. Exp Hematol, 2007 Aug. PMID 17662887
  5. Delayed onset of hemolytic anemia in CBA-Pk-1slc/Pk-1slc mice with a point mutation of the gene encoding red blood cell type pyruvate kinase. Tsujino K, et al. Blood, 1998 Mar 15. PMID 9490705

See all (69) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Liver Pyruvate Kinase Promotes NAFLD/NASH in Both Mice and Humans in a Sex-Specific Manner.
    Title: Liver Pyruvate Kinase Promotes NAFLD/NASH in Both Mice and Humans in a Sex-Specific Manner.
  2. AMPD3 deficiency increases the level of ATP in erythrocytes, but does not improve anemia due to pyruvate kinase deficiency and leads to erythrocyte dysfunction.
    Title: AMPD3-deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiency.
  3. Pyruvate kinase deficiency in mice protects against malaria
    Title: Pyruvate kinase deficiency in mice protects against malaria.
  4. the metabolic disturbance in PK deficiency alters not only the survival of red cells but also the maturation of erythroid progenitors, resulting in ineffective erythropoiesis.
    Title: Ineffective erythropoiesis in mutant mice with deficient pyruvate kinase activity.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables magnesium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables monosaccharide binding ISO
Inferred from Sequence Orthology
more info
  
enables potassium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables pyruvate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables pyruvate kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables pyruvate kinase activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in cellular response to insulin stimulus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to insulin stimulus ISO
Inferred from Sequence Orthology
more info
  
involved_in glycolytic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glycolytic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in glycolytic process IEA
Inferred from Electronic Annotation
more info
  
involved_in glycolytic process ISO
Inferred from Sequence Orthology
more info
  
involved_in glycolytic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in pyruvate biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in response to ATP ISO
Inferred from Sequence Orthology
more info
  
involved_in response to cAMP ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within response to other organism IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
part_of pyruvate kinase complex ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
pyruvate kinase PKLR
Names
L-PK
pyruvate kinase isozymes L/R
pyruvate kinase isozymes R/L
NP_001093249.1
NP_038659.2
XP_006501197.1
XP_006501198.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001099779.1 → NP_001093249.1  pyruvate kinase PKLR isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' end-region, which includes a part of the coding region, as compared to variant 1. The resulting isoform (2) has a distinct and shorter N-terminus, as compared to isoform 1. Isoform 2 is also known as isoform L.
    Source sequence(s)
    AK149508, AK149524
    Consensus CDS
    CCDS50957.1
    UniProtKB/TrEMBL
    E9Q509, Q3UEH4
    Related
    ENSMUSP00000103106.4, ENSMUST00000107482.10
    Conserved Domains (1) summary
    cd00288
    Location:54 → 542
    Pyruvate_Kinase; Pyruvate kinase (PK): Large allosteric enzyme that regulates glycolysis through binding of the substrate, phosphoenolpyruvate, and one or more allosteric effectors. Like other allosteric enzymes, PK has a high substrate affinity R state and a low ...

  2. NM_013631.2 → NP_038659.2  pyruvate kinase PKLR isoform 1

    See identical proteins and their annotated locations for NP_038659.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Isoform 1 is also known as isoform R.
    Source sequence(s)
    AK149508, AK149524, BY107231, BY781095
    Consensus CDS
    CCDS17489.1
    UniProtKB/Swiss-Prot
    P53657
    UniProtKB/TrEMBL
    G3X925
    Related
    ENSMUSP00000035417.7, ENSMUST00000047111.13
    Conserved Domains (2) summary
    cd00288
    Location:85 → 573
    Pyruvate_Kinase; Pyruvate kinase (PK): Large allosteric enzyme that regulates glycolysis through binding of the substrate, phosphoenolpyruvate, and one or more allosteric effectors. Like other allosteric enzymes, PK has a high substrate affinity R state and a low ...
    TIGR01064
    Location:86 → 570
    pyruv_kin; pyruvate kinase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000069.7 Reference GRCm39 C57BL/6J

    Range
    89043429..89054122
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006501135.4 → XP_006501198.1  pyruvate kinase PKLR isoform X2

    UniProtKB/Swiss-Prot
    P53657
    Conserved Domains (1) summary
    cd00288
    Location:109 → 597
    Pyruvate_Kinase; Pyruvate kinase (PK): Large allosteric enzyme that regulates glycolysis through binding of the substrate, phosphoenolpyruvate, and one or more allosteric effectors. Like other allosteric enzymes, PK has a high substrate affinity R state and a low ...

  2. XM_006501134.4 → XP_006501197.1  pyruvate kinase PKLR isoform X1

    UniProtKB/TrEMBL
    Q3UEH4
    Conserved Domains (1) summary
    cd00288
    Location:21 → 509
    Pyruvate_Kinase; Pyruvate kinase (PK): Large allosteric enzyme that regulates glycolysis through binding of the substrate, phosphoenolpyruvate, and one or more allosteric effectors. Like other allosteric enzymes, PK has a high substrate affinity R state and a low ...
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P53657.1 GenPept UniProtKB/Swiss-Prot:P53657

Gene LinkOut

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