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; chr1:155259084-155271225 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human PKLR

Alleles and phenotypes

All alleles(5) : Targeted(2) Spontaneous(2) Chemically induced(1)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (24 annotations)

Process	ATP biosynthetic process, carbohydrate metabolic process, ...
Component	cytosol
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 Type	Results
RNA in situ	158

cDNA source data(10)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Pklr

Sequences

Length	Strain/Species
genomic	OTTMUSG00000017504	VEGA Gene Model | MGI Sequence Detail	10643	C57BL/6J
transcript	OTTMUST00000042489	VEGA | MGI Sequence Detail	2787	Not Applicable
polypeptide	OTTMUSP00000019089	VEGA | MGI Sequence Detail	574	Not Applicable

All sequences(41) RefSeq(4) UniProt(7)

Polymorphisms

RFLP(1) : SNPs within 2kb(67 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
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:186666 Pang CJ, et al., Kruppel-like factor 1 (KLF1), KLF2, and Myc control a regulatory network essential for embryonic erythropoiesis. Mol Cell Biol. 2012 Jul;32(13):2628-44
All references(65)

Other accession IDs

MGD-MRK-13318, MGD-MRK-13321, MGD-MRK-13337