Pfkm Gene Summary [Mouse]
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, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pfkm |
| Official Name | phosphofructokinase, muscle [Source:MGI Symbol;Acc:MGI:97548] |
| Ensembl ID | ENSMUSG00000033065 |
| Bio databases IDs | |
| Aliases | phosphofructokinase, muscle |
| Synonyms | ATP-PFK, GSD7, PFK-1, Pfk-4, PFK-A, PFKX, phosphofructokinase, muscle, PPP1R122 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Pfkm often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATP binding
- enzyme
- protein binding
- identical protein binding
- kinase
- 6-phosphofructokinase, eukaryotic type
- AMP binding
- monosaccharide binding
- kinase binding
- binding protein
- 6-phosphofructokinase
- carbohydrate binding
- PFK
- phosphofructokinase
Pathways
Biological processes and signaling networks where the Pfkm gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- glycogen storage disease type VII
- idiopathic dilated cardiomyopathy
- hypoxia
- cardiac hypertrophy
- Huntington disease
- peroxisomal biogenesis disorder 3B
- glycogen storage disease
- headache
- rhabdomyolysis
regulates
- insulin
- D-glucose
- fructose-1,6-bisphosphate
- RNA polymerase II
- DNA promoter
- DNA endogenous promoter
- glycogen
- fructose-6-phosphate
- LDH (complex)
- lactic acid
role in cell
- production in
- number
- abnormal morphology
- quantity
- survival
- radioresistance
- glycolysis in
- degeneration
- necrosis
- homeostasis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- detergent-insoluble fractions
- intracellular space
- Nucleus
- cytosol
- apical cell surfaces
- apical membrane
- synaptic vesicles
- synaptosomes
- sarcolemma
- membrane rafts
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Pfkm gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle cell homeostasis
- glucose homeostasis
- glycolysis
- fructose 6-phosphate metabolic process
- glycogen catabolic process
- positive regulation of insulin secretion
- positive regulation of transcription from RNA polymerase II promoter
- carbohydrate phosphorylation
- fructose 1,6-bisphosphate metabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- 6-phosphofructokinase complex
- membrane
- cytosol
- sperm principal piece
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- ATP binding
- identical protein binding
- fructose binding
- fructose-6-phosphate binding
- protein binding
- AMP binding
- metal ion binding
- monosaccharide binding
- 6-phosphofructokinase activity
- kinase binding