PFKM Gene Summary [Human]
Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]
Details
| Type | Protein Coding |
| Official Symbol | PFKM |
| Official Name | phosphofructokinase, muscle [Source:HGNC Symbol;Acc:HGNC:8877] |
| Ensembl ID | ENSG00000152556 |
| Bio databases IDs | |
| Aliases | phosphofructokinase, muscle, protein phosphatase 1, regulatory subunit 122 |
| Synonyms | ATP-PFK, GSD7, PFK-1, Pfk-4, PFK-A, PFKX, phosphofructokinase, muscle, PPP1R122 |
| Species | Human, Homo sapiens |
| 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 human 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 human 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 human 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