Pfkm phosphofructokinase, muscle [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pfkmprovided by MGI
Official Full Name: phosphofructokinase, muscleprovided by MGI
Primary source: MGI:MGI:97548
See related: Ensembl:ENSMUSG00000033065 AllianceGenome:MGI:97548
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: Pfk4; Pfka; Pfkx; PFK-A; PFK-M; Pfk-4; ATP-PFK
Summary: Enables 6-phosphofructokinase activity and identical protein binding activity. Involved in canonical glycolysis. Acts upstream of or within glucose homeostasis; polysaccharide catabolic process; and positive regulation of insulin secretion. Located in sperm principal piece. Is active in cytosol. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and musculoskeletal system. Used to study glycogen storage disease VII. Human ortholog(s) of this gene implicated in glycogen storage disease VII. Orthologous to human PFKM (phosphofructokinase, muscle). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in heart adult (RPKM 178.4), cerebellum adult (RPKM 100.9) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 F1; 15 54.09 cM

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (97990470..98030328)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (98092589..98132447)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Slow oscillations persist in pancreatic beta cells lacking phosphofructokinase M.
Title: Slow oscillations persist in pancreatic beta cells lacking phosphofructokinase M.
MicroRNA-383-5p Regulates Oxidative Stress in Mice with Acute Myocardial Infarction through the AMPK Signaling Pathway via PFKM.
Title: MicroRNA-383-5p Regulates Oxidative Stress in Mice with Acute Myocardial Infarction through the AMPK Signaling Pathway via PFKM.
Mycobacterium tuberculosis Limits Host Glycolysis and IL-1beta by Restriction of PFK-M via MicroRNA-21.
Title: Mycobacterium tuberculosis Limits Host Glycolysis and IL-1β by Restriction of PFK-M via MicroRNA-21.
insulin, the most known regulator of glucose consumption, specifically regulates the expression of PFKL and PFKM, which impact the regulation of glycolysis in the cell.
Title: Insulin specifically regulates expression of liver and muscle phosphofructokinase isoforms.
This study demonstrated that the reveal PFK-1 as an important regulator of neurogenesis.
Title: Phosphofructokinase-1 Negatively Regulates Neurogenesis from Neural Stem Cells.
These results reveal a novel role of NRX in the regulation of PFK1 activity and in the balance between glycolysis and the pentose phosphate pathway.
Title: Nucleoredoxin regulates glucose metabolism via phosphofructokinase 1.
Posttranslational modification of PFK1 enzyme might be the pivotal factor of deregulated glycolytic flux in tumors.
Title: Posttranslational modification of 6-phosphofructo-1-kinase as an important feature of cancer metabolism.
HK1S is tethered in the principal piece region by PFKMS, which in turn is bound tightly to GSTM5 in the fibrous sheath of sperm.
Title: Molecular complex of three testis-specific isozymes associated with the mouse sperm fibrous sheath: hexokinase 1, phosphofructokinase M, and glutathione S-transferase mu class 5.
In skeletal muscle, the lack of PFK activity blocked glycolysis and resulted in considerable glycogen storage and low ATP content.
Title: Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis.
Thr-201 phosphorylation of Bad by JNK1 is required for PFK-1 activation
Title: Phosphorylation of Bad at Thr-201 by JNK1 promotes glycolysis through activation of phosphofructokinase-1.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

Endonuclease-mediated (3) 1 citation
Gene trapped (1) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:375070 (e-PCR)
- UniSTS:156992

Pfkm (e-PCR), detects polymorphism
- UniSTS:463017

Pfkm (e-PCR), detects polymorphism
- UniSTS:463018

Pfkm (e-PCR), detects polymorphism
- UniSTS:463019

Pfkm (e-PCR), detects polymorphism
- UniSTS:463020

Pfkm (e-PCR), detects polymorphism
- UniSTS:463021

Pfkm (e-PCR), detects polymorphism
- UniSTS:463022

Pfkm (e-PCR), detects polymorphism
- UniSTS:463023

Pfkm (e-PCR), detects polymorphism
- UniSTS:507131

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 6-phosphofructokinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 6-phosphofructokinase activity	IDA Inferred from Direct Assay more info	PubMed
enables 6-phosphofructokinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables 6-phosphofructokinase activity	ISO Inferred from Sequence Orthology more info
enables 6-phosphofructokinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables AMP binding	ISO Inferred from Sequence Orthology more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables carbohydrate binding	ISO Inferred from Sequence Orthology more info
enables fructose binding	IEA Inferred from Electronic Annotation more info
enables fructose binding	ISO Inferred from Sequence Orthology more info
enables fructose-6-phosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables fructose-6-phosphate binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables kinase binding	IEA Inferred from Electronic Annotation more info
enables kinase binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phosphofructokinase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphofructokinase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in canonical glycolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in canonical glycolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in canonical glycolysis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within canonical glycolysis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in carbohydrate phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in fructose 1,6-bisphosphate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in fructose 1,6-bisphosphate metabolic process	ISO Inferred from Sequence Orthology more info
involved_in fructose 6-phosphate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in fructose 6-phosphate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in fructose 6-phosphate metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within glucose homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glycogen catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glycolysis from storage polysaccharide through glucose-1-phosphate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycolytic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within glycolytic process through fructose-6-phosphate	IC Inferred by Curator more info	PubMed
involved_in glycolytic process through fructose-6-phosphate	IC Inferred by Curator more info	PubMed
acts_upstream_of_or_within glycolytic process through fructose-6-phosphate	IDA Inferred from Direct Assay more info	PubMed
involved_in glycolytic process through fructose-6-phosphate	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within glycolytic process through fructose-6-phosphate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycolytic process through fructose-6-phosphate	ISO Inferred from Sequence Orthology more info
involved_in muscle cell cellular homeostasis	IEA Inferred from Electronic Annotation more info
involved_in muscle cell cellular homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of 6-phosphofructokinase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of 6-phosphofructokinase complex	IEA Inferred from Electronic Annotation more info
part_of 6-phosphofructokinase complex	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in sperm principal piece	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ATP-dependent 6-phosphofructokinase, muscle type

Names: 6-phosphofructokinase type A; 6-phosphofructokinase, muscle type; phosphofructo-1-kinase isozyme A; phosphofructokinase 1; phosphofructokinase 4; phosphofructokinase M variant 3/4; phosphofructokinase, polypeptide X; phosphofructokinase-1 A isozyme; phosphofructokinase-M (connecting peptide); phosphohexokinase

NP_001156959.1

EC 2.7.1.11

NP_001156960.1

EC 2.7.1.11

NP_001344617.1

EC 2.7.1.11

NP_067489.3

EC 2.7.1.11

XP_006520664.1

EC 2.7.1.11

XP_030104272.1

EC 2.7.1.11

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_001163487.1 → NP_001156959.1 ATP-dependent 6-phosphofructokinase, muscle type

See identical proteins and their annotated locations for NP_001156959.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the predominant transcript. Variants 1, 2, 3 and 4 encode the same protein.

Source sequence(s)

AA420165, AI930496, AK002711, CX218942

Consensus CDS

CCDS27786.1

UniProtKB/Swiss-Prot

C8CMN5, C8CMN6, C8CMN7, O35513, P47857, Q543L1, Q9JK94

UniProtKB/TrEMBL

Q99K08

Related

ENSMUSP00000059801.7, ENSMUST00000051226.8

Conserved Domains (1) summary

cd00764
Location:13 → 774

Eukaryotic_PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to a subfamily of the PFKA family (cd00363) and include eukaryotic ATP-dependent ...
NM_001163488.1 → NP_001156960.1 ATP-dependent 6-phosphofructokinase, muscle type

See identical proteins and their annotated locations for NP_001156960.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternative 5' non-coding exon compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.

Source sequence(s)

AA420165, AC113444, AK002711, BY226660

Consensus CDS

CCDS27786.1

UniProtKB/Swiss-Prot

C8CMN5, C8CMN6, C8CMN7, O35513, P47857, Q543L1, Q9JK94

UniProtKB/TrEMBL

Q99K08

Related

ENSMUSP00000132803.2, ENSMUST00000163507.8

Conserved Domains (1) summary

cd00764
Location:13 → 774

Eukaryotic_PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to a subfamily of the PFKA family (cd00363) and include eukaryotic ATP-dependent ...
NM_001357688.1 → NP_001344617.1 ATP-dependent 6-phosphofructokinase, muscle type

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains an alternative 5' non-coding exon compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.

Source sequence(s)

AC113444

Consensus CDS

CCDS27786.1

UniProtKB/Swiss-Prot

C8CMN5, C8CMN6, C8CMN7, O35513, P47857, Q543L1, Q9JK94

UniProtKB/TrEMBL

Q99K08

Conserved Domains (1) summary

cd00764
Location:13 → 774

Eukaryotic_PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to a subfamily of the PFKA family (cd00363) and include eukaryotic ATP-dependent ...
NM_021514.4 → NP_067489.3 ATP-dependent 6-phosphofructokinase, muscle type

See identical proteins and their annotated locations for NP_067489.3

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.

Source sequence(s)

AA420165, AK002711, BY782498

Consensus CDS

CCDS27786.1

UniProtKB/Swiss-Prot

C8CMN5, C8CMN6, C8CMN7, O35513, P47857, Q543L1, Q9JK94

UniProtKB/TrEMBL

Q99K08

Conserved Domains (1) summary

cd00764
Location:13 → 774

Eukaryotic_PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to a subfamily of the PFKA family (cd00363) and include eukaryotic ATP-dependent ...

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_000081.7 Reference GRCm39 C57BL/6J

Range

97990470..98030328

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030248412.1 → XP_030104272.1 ATP-dependent 6-phosphofructokinase, muscle type isoform X2

UniProtKB/Swiss-Prot

C8CMN5, C8CMN6, C8CMN7, O35513, P47857, Q543L1, Q9JK94

UniProtKB/TrEMBL

Q99K08

Conserved Domains (1) summary

cd00764
Location:13 → 774

Eukaryotic_PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to a subfamily of the PFKA family (cd00363) and include eukaryotic ATP-dependent ...
XM_006520601.4 → XP_006520664.1 ATP-dependent 6-phosphofructokinase, muscle type isoform X1

UniProtKB/TrEMBL

Q99K08

Conserved Domains (1) summary

cd00764
Location:83 → 844

Eukaryotic_PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to a subfamily of the PFKA family (cd00363) and include eukaryotic ATP-dependent ...