Pklr pyruvate kinase liver and red blood cell [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pklrprovided by MGI
Official Full Name: pyruvate kinase liver and red blood cellprovided by MGI
Primary source: MGI:MGI:97604
See related: Ensembl:ENSMUSG00000041237 AllianceGenome:MGI:97604
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pk1; Pk-1; R-PK
Summary: Enables pyruvate kinase activity. Acts upstream of or within response to other organism. Located in cytoplasm and plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study malaria and pyruvate kinase deficiency of red cells. Human ortholog(s) of this gene implicated in Gaucher's disease; congenital nonspherocytic hemolytic anemia; malaria; pyruvate kinase deficiency of red cells; and type 2 diabetes mellitus. Orthologous to human PKLR (pyruvate kinase L/R). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver E14.5 (RPKM 90.1), duodenum adult (RPKM 85.4) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F1; 3 39.01 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (89043429..89054122)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (89136122..89146815)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Liver Pyruvate Kinase Promotes NAFLD/NASH in Both Mice and Humans in a Sex-Specific Manner.
Title: Liver Pyruvate Kinase Promotes NAFLD/NASH in Both Mice and Humans in a Sex-Specific Manner.
AMPD3 deficiency increases the level of ATP in erythrocytes, but does not improve anemia due to pyruvate kinase deficiency and leads to erythrocyte dysfunction.
Title: AMPD3-deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiency.
Pyruvate kinase deficiency in mice protects against malaria
Title: Pyruvate kinase deficiency in mice protects against malaria.
the metabolic disturbance in PK deficiency alters not only the survival of red cells but also the maturation of erythroid progenitors, resulting in ineffective erythropoiesis.
Title: Ineffective erythropoiesis in mutant mice with deficient pyruvate kinase activity.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (2) 1 citation
Targeted (1)
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pklr (e-PCR), detects polymorphism
- UniSTS:507143

NoName (e-PCR)
- UniSTS:225291

Pklr (e-PCR), detects polymorphism
- UniSTS:144206

PMC86965P4 (e-PCR)
- UniSTS:273570

NoName (e-PCR)
- UniSTS:234729

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables monosaccharide binding	ISO Inferred from Sequence Orthology more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables potassium ion binding	IEA Inferred from Electronic Annotation more info
enables pyruvate kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables pyruvate kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables pyruvate kinase activity	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular response to insulin stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to insulin stimulus	ISO Inferred from Sequence Orthology more info
involved_in glycolytic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycolytic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glycolytic process	ISO Inferred from Sequence Orthology more info
involved_in glycolytic process	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in pyruvate biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in response to ATP	ISO Inferred from Sequence Orthology more info
involved_in response to cAMP	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to other organism	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of pyruvate kinase complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: pyruvate kinase PKLR

Names: L-PK; pyruvate kinase isozymes L/R; pyruvate kinase isozymes R/L

NP_001093249.1

EC 2.7.1.40

NP_038659.2

EC 2.7.1.40

XP_006501197.1

EC 2.7.1.40

XP_006501198.1

EC 2.7.1.40

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001099779.1 → NP_001093249.1 pyruvate kinase PKLR isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' end-region, which includes a part of the coding region, as compared to variant 1. The resulting isoform (2) has a distinct and shorter N-terminus, as compared to isoform 1. Isoform 2 is also known as isoform L.

Source sequence(s)

AK149508, AK149524

Consensus CDS

CCDS50957.1

UniProtKB/TrEMBL

E9Q509, Q3UEH4

Related

ENSMUSP00000103106.4, ENSMUST00000107482.10

Conserved Domains (1) summary

cd00288
Location:54 → 542

Pyruvate_Kinase; Pyruvate kinase (PK): Large allosteric enzyme that regulates glycolysis through binding of the substrate, phosphoenolpyruvate, and one or more allosteric effectors. Like other allosteric enzymes, PK has a high substrate affinity R state and a low ...
NM_013631.2 → NP_038659.2 pyruvate kinase PKLR isoform 1

See identical proteins and their annotated locations for NP_038659.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Isoform 1 is also known as isoform R.

Source sequence(s)

AK149508, AK149524, BY107231, BY781095

Consensus CDS

CCDS17489.1

UniProtKB/Swiss-Prot

P53657

UniProtKB/TrEMBL

G3X925

Related

ENSMUSP00000035417.7, ENSMUST00000047111.13

Conserved Domains (2) summary

cd00288
Location:85 → 573

Pyruvate_Kinase; Pyruvate kinase (PK): Large allosteric enzyme that regulates glycolysis through binding of the substrate, phosphoenolpyruvate, and one or more allosteric effectors. Like other allosteric enzymes, PK has a high substrate affinity R state and a low ...

TIGR01064
Location:86 → 570

pyruv_kin; pyruvate kinase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

89043429..89054122

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006501135.4 → XP_006501198.1 pyruvate kinase PKLR isoform X2

UniProtKB/Swiss-Prot

P53657

Conserved Domains (1) summary

cd00288
Location:109 → 597

Pyruvate_Kinase; Pyruvate kinase (PK): Large allosteric enzyme that regulates glycolysis through binding of the substrate, phosphoenolpyruvate, and one or more allosteric effectors. Like other allosteric enzymes, PK has a high substrate affinity R state and a low ...
XM_006501134.4 → XP_006501197.1 pyruvate kinase PKLR isoform X1

UniProtKB/TrEMBL

Q3UEH4

Conserved Domains (1) summary

cd00288
Location:21 → 509

Pyruvate_Kinase; Pyruvate kinase (PK): Large allosteric enzyme that regulates glycolysis through binding of the substrate, phosphoenolpyruvate, and one or more allosteric effectors. Like other allosteric enzymes, PK has a high substrate affinity R state and a low ...