phosphofructokinase, muscle

Summary
Gene Symbol
  • PFKM
Aliases
  • PFK-1
  • PPP1R122
  • protein phosphatase 1, regulatory subunit 122
Organism
Homo sapiens (human)
External Links
NCBI Gene
5213
HGNC
8877
KEGG Gene ID
hsa:5213
PubChem
5213
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Acetylation
  • Allosteric enzyme
  • Alternative splicing
  • Cytoplasm
  • Disease variant
  • Glycogen storage disease
  • Glycolysis
  • Glycoprotein
  • Hydroxylation
  • Kinase
  • Magnesium
  • Metal-binding
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
Proteins
Displaying all 3 entries
UniProt Protein Name
A0A2R8Y891
  • Phosphohexokinase
A0A024R0Y5
  • Phosphofructo-1-kinase isozyme A
P08237
  • 6-phosphofructokinase type A
  • Phosphofructo-1-kinase isozyme A
  • Phosphohexokinase
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000152556

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K00850
Name
6-phosphofructokinase 1 [EC:2.7.1.11]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 50 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0090031 D-bifunctional protein deficiency
DOID:0090129 carnitine palmitoyltransferase I deficiency
DOID:0111040 glycogen storage disease IXd
DOID:0111041 glycogen storage disease IXb
DOID:0111042 glycogen storage disease IXa
DOID:0111043 glycogen storage disease IXc
DOID:10211 cholelithiasis
DOID:11151 cholecystolithiasis
DOID:11721 glycogen storage disease VII
The Human Phenotype Ontology
Displaying entries 11 - 20 of 27 in total
HPO ID HPO Term
HP:0002486 Myotonia
HP:0003202 Skeletal muscle atrophy
HP:0003236 Elevated circulating creatine kinase concentration
HP:0003326 Myalgia
HP:0003388 Easy fatigability
HP:0003546 Exercise intolerance
HP:0003557 Increased variability in muscle fiber diameter
HP:0003573 Increased total bilirubin
HP:0003621 Juvenile onset
HP:0003710 Exercise-induced muscle cramps
Displaying all 2 entries
Disease ID Disease Name
OMIM:232800
  • glycogen storage disease VII
ORPHA:371
  • glycogen storage disease VII

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024