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Pklr Gene Detail
Summary
  • Symbol
    Pklr
  • Name
    pyruvate kinase liver and red blood cell
  • Synonyms
    Pk1, Pk-1, R-PK
  • Feature Type
    protein coding gene
  • IDs
    MGI:97604
    NCBI Gene: 18770
  • Gene Overview
    MyGene.info: PKLR
Location & Maps
more
  • Sequence Map
    Chr3:89136142-89146784 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      10643 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PKLR, pyruvate kinase, liver and RBC
  • Vertebrate Orthologs
    8
  • Human Ortholog
    PKLR, pyruvate kinase, liver and RBC
    Orthology source: HGNC, HomoloGene
  • Synonyms
    PK1, PKL, PKR, PKRL, RPK
  • Links
    NCBI Gene ID: 5313
    neXtProt AC: NX_P30613

  • Chr Location
    1q21; chr1:155289293-155308709 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Pklr mouse models; 2 with human PKLR associations

Human Disease Mouse Models
       Pyruvate Kinase Deficiency of Red Cells   OMIM: 266200 View 2 models
       Malaria, Susceptibility to   OMIM: 611162 View 1 model
       Adenosine Triphosphate, Elevated, of Erythrocytes   OMIM: 102900
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    23 phenotypes from 3 alleles in 4 genetic backgrounds
    6 phenotypes from multigenic genotypes
    19 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    7
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Spontaneous
    2
  • Targeted
    2
  • Genomic Mutations
    2 involving Pklr
  • Incidental Mutations
Mice homozygous for loss of function mutations in this gene suffer from hemolytic anemia. This is also a candidate gene for malaria resistance QTL Char4 and immunity to Salmonella typhimurium QTL Ity4.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017504 VEGA Gene Model | MGI Sequence Detail 10643 C57BL/6J ±  kb
transcript OTTMUST00000042489 VEGA | MGI Sequence Detail 2787 Not Applicable  
polypeptide OTTMUSP00000019089 VEGA | MGI Sequence Detail 574 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    67 from dbSNP Build 142
  • RFLP
Protein
Information
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Molecular
Reagents
less
  • All nucleic 13
    cDNA 10
    Primer pair 2
    Other 1

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-13318, MGD-MRK-13321, MGD-MRK-13337
References
more
  • Summaries
    All 58
    Developmental Gene Expression 6
    Diseases 4
    Gene Ontology 7
    Phenotypes 19
  • Earliest
    J:13777 Bulfield G, et al., [Pk-1]. Mouse News Lett. 1978;59:29
  • Latest
    J:203909 Cheng J, et al., AMPD3-deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiency. Genes Cells. 2012 Nov;17(11):913-22

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory