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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
  • Alliance
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:89043449-89054091 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 3, 39.01 cM
  • Mapping Data
    12 experiments
Strain
Comparison
more
  • SNPs within 2kb
    67 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97604
protein coding gene Chr3:89043429-89054122 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027416
protein coding gene Chr3:89326543-89338166 (+)
A/J MGP_AJ_G0027380
protein coding gene Chr3:86374054-86385188 (+)
AKR/J MGP_AKRJ_G0027344
protein coding gene Chr3:88461788-88473146 (+)
BALB/cJ MGP_BALBcJ_G0027389
protein coding gene Chr3:86344442-86355109 (+)
C3H/HeJ MGP_C3HHeJ_G0027131
protein coding gene Chr3:88667606-88678705 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027835
protein coding gene Chr3:92706147-92718139 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025187
protein coding gene Chr3:81864460-81875161 (+)
CAST/EiJ MGP_CASTEiJ_G0026577
protein coding gene Chr3:89016862-89027497 (+)
CBA/J MGP_CBAJ_G0027105
protein coding gene Chr3:95887307-95898267 (+)
DBA/2J MGP_DBA2J_G0027243
protein coding gene Chr3:85760630-85771456 (+)
FVB/NJ MGP_FVBNJ_G0027211
protein coding gene Chr3:84089715-84108796 (+)
LP/J MGP_LPJ_G0027352
protein coding gene Chr3:90407586-90418211 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027231
protein coding gene Chr3:102106778-102118882 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027894
protein coding gene Chr3:88219849-88231972 (+)
PWK/PhJ MGP_PWKPhJ_G0026311
protein coding gene Chr3:85628329-85639313 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026130
protein coding gene Chr3:87388334-87398972 (+)
WSB/EiJ MGP_WSBEiJ_G0026659
protein coding gene Chr3:88603376-88614002 (+)



Homology
more
  • Human Ortholog
    PKLR, pyruvate kinase L/R
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PKLR, pyruvate kinase L/R
  • Synonyms
    PK1, PKL, PKRL, RPK
  • Links
    NCBI Gene ID: 5313
    neXtProt AC: NX_P30613
    UniProt: P30613

  • Chr Location
    1q22; chr1:155289293-155308654 (-)  GRCh38

Human Diseases
more
  • Diseases
    2 with Pklr mouse models; 5 with human PKLR associations

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 2 models
      
IDs
IDs
IDs
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
    28 phenotypes from 4 alleles in 5 genetic backgrounds
    6 phenotypes from multigenic genotypes
    26 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000041237 Ensembl Gene Model | MGI Sequence Detail 10643 C57BL/6J ±  kb
    transcript ENSMUST00000047111 Ensembl | MGI Sequence Detail 2787 Not Applicable  
    polypeptide ENSMUSP00000035417 Ensembl | MGI Sequence Detail 574 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 14
      cDNA 11
      Primer pair 2
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-13318, MGD-MRK-13321, MGD-MRK-13337
    References
    more
    • Summaries
      All 82
      Developmental Gene Expression 10
      Diseases 4
      Gene Ontology 11
      Phenotypes 26
    • Earliest
      J:6625 Peters J, et al., Polymorphism of kidney pyruvate kinase in the mouse is determined by a gene, Pk-3, on chromosome 9. Biochem Genet. 1981 Aug;19(7-8):757-69
    • Latest
      J:338630 Rong R, et al., Image-based quantification of histological features as a function of spatial location using the Tissue Positioning System. EBioMedicine. 2023 Jul 13;94:104698

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory