About   Help   FAQ
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

Protein SuperFamily: pyruvate kinase
Gene Tree: Pklr

Human
homologs
Human Homolog PKLR, pyruvate kinase, liver and RBC
NCBI Gene ID 5313
neXtProt AC  NX_P30613
Human Synonyms  PK1, PKL, PKR, PKRL, RPK
Human Chr (Location)  1q21; chr1:155289293-155308723 (-)  GRCh38
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 Using Mouse Pklr (1)    Alleles 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 vesicular exosome
Function ATP binding, catalytic activity, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (158)    Tissues (105)    Images (39)
Theiler Stages: 22, 23
Assay TypeResults
RNA in situ 158
cDNA source data(10)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(13) cDNA(10) Primer pair(2) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000017504 (Evidence)
Ensembl Gene ModelENSMUSG00000041237 (Evidence)
Entrez Gene18770 (Evidence)
NIA Mouse Gene IndexU003452
EC2.7.1.40
Consensus CDS ProjectCCDS17489.1, CCDS50957.1
International Mouse Knockout Project StatusPklr
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(67)
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
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/26/2014
MGI 5.19
The Jackson Laboratory