PFKM

PFKM
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4OMT
Identifiers
Aliases	PFKM, ATP-PFK, GSD7, PFK-1, PFK1, PFKA, PFKX, PPP1R122, phosphofructokinase, muscle
External IDs	OMIM: 610681; MGI: 97548; HomoloGene: 20101; GeneCards: PFKM; OMA:PFKM - orthologs
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	98,030,332 bp
RNA expression pattern
	n/a
	Top expressed in
	triceps brachii muscle; ; temporal muscle; ; extensor digitorum longus muscle; ; ankle; ; sternocleidomastoid muscle; ; medial head of gastrocnemius muscle; ; tibialis anterior muscle; ; digastric muscle; ; vastus lateralis muscle; ; muscle of thigh;
	More reference expression data
Gene ontology
Molecular function	transferase activity; nucleotide binding; protein homodimerization activity; metal ion binding; kinase activity; fructose binding; kinase binding; protein C-terminus binding; catalytic activity; protein binding; identical protein binding; phosphofructokinase activity; ATP binding; 6-phosphofructokinase activity; AMP binding; monosaccharide binding; fructose-6-phosphate binding;
Cellular component	cytoplasm; cytosol; 6-phosphofructokinase complex; sperm principal piece; apical plasma membrane; nucleus; membrane;
Biological process	fructose 6-phosphate metabolic process; glycolysis from storage polysaccharide through glucose-1-phosphate; glycolytic process; muscle cell cellular homeostasis; glucose homeostasis; phosphorylation; canonical glycolysis; carbohydrate phosphorylation; glycogen catabolic process; protein complex oligomerization; metabolism; positive regulation of insulin secretion; positive regulation of transcription by RNA polymerase II; glycolytic process through fructose-6-phosphate; glucose catabolic process; fructose 1,6-bisphosphate metabolic process; protein homotetramerization;
	Sources:Amigo / QuickGO
Orthologs
	5213
	18642
	ENSG00000152556
	ENSMUSG00000033065
	P08237
	P47857
	NM_000289; NM_001166686; NM_001166687; NM_001166688
	NM_001163487; NM_001163488; NM_021514; NM_001357688
NP_000280; NP_001160158; NP_001160159; NP_001160160; NP_001341664;
	NP_001341666; NP_001341667; NP_001341668; NP_001341669; NP_001341670; NP_001341671; NP_001341672; NP_001341673; NP_001341674; NP_001341675; NP_001341676; NP_001341677; NP_001341665; NP_001350548
	NP_001156959; NP_001156960; NP_067489; NP_001344617
	Wikidata
View/Edit Human	View/Edit Mouse

6-phosphofructokinase, muscle type is an enzyme that in humans is encoded by the PFKM gene on chromosome 12. 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]