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Pklr
Gene Detail
Symbol

Name
ID
Pklr
pyruvate kinase liver and red blood cell
MGI:97604
Synonyms
Pk1, Pk-1, R-PK
Feature Type
protein coding gene
Genetic Map
Chromosome 3
39.01 cM
Detailed Genetic Map ± 1 cM


Mapping data(12)
Sequence Map
Chr3:89136142-89146784 bp, + strand
From VEGA annotation of GRCm38

  10643 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37286  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

HCOP human homology predictions: PKLR
Protein SuperFamily: pyruvate kinase
Gene Tree: Pklr

Human
homologs
PKLR, pyruvate kinase, liver and RBC
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 5313
neXtProt AC: NX_P30613

Human Synonyms: PK1, PKL, PKR, PKRL, RPK

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

Disease Associations: (2) Diseases Associated with Human PKLR

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Chemically induced (ENU)(1) Spontaneous(2) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled in Mice Using Pklr (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Pklr interacts with 170 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (25 annotations)
Process ATP biosynthetic process, carbohydrate metabolic process, ...
Component cytosol, extracellular exosome
Function ATP binding, catalytic activity, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (158)    Tissues (105)    Images (39)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 158
cDNA source data(10)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase pklr ; ZFIN pklr    NEW 
Molecular
reagents
All nucleic(13) cDNA(10) Primer pair(2) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000017504 (Evidence)
Ensembl Gene Model ENSMUSG00000041237 (Evidence)
Entrez Gene 18770 (Evidence)
NIA Mouse Gene Index U003452
EC 2.7.1.40
Consensus CDS Project CCDS17489.1, CCDS50957.1
International Mouse Phenotyping Consortium Status Pklr
Sequences
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 sequences
All sequences(45) RefSeq(8) UniProt(7)
Polymorphisms
RFLP(1) : SNPs within 2kb(67 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001697 Pyruvate kinase
InterPro IPR018209 Pyruvate kinase, active site
InterPro IPR015794 Pyruvate kinase, alpha/beta
InterPro IPR015793 Pyruvate kinase, barrel
InterPro IPR015806 Pyruvate kinase, beta-barrel insert domain
InterPro IPR015795 Pyruvate kinase, C-terminal
InterPro IPR011037 Pyruvate kinase-like, insert domain
InterPro IPR015813 Pyruvate/Phosphoenolpyruvate kinase-like domain
Protein Ontology PR:000012782 pyruvate kinase isozymes R/L
References
(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
All references(60)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-13318, MGD-MRK-13321, MGD-MRK-13337

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
05/20/2015
MGI 5.22
The Jackson Laboratory