Entity Details

Primary name PFKAM_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP08237
EntryNamePFKAM_HUMAN
FullNameATP-dependent 6-phosphofructokinase, muscle type
TaxID9606
Evidenceevidence at protein level
Length780
SequenceStatuscomplete
DateCreated1988-08-01
DateModified2021-06-02

Ontological Relatives

GenesPFKM

GO terms

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GOName
GO:0003872 6-phosphofructokinase activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005945 6-phosphofructokinase complex
GO:0006002 fructose 6-phosphate metabolic process
GO:0006096 glycolytic process
GO:0008022 protein C-terminus binding
GO:0016020 membrane
GO:0016208 AMP binding
GO:0016324 apical plasma membrane
GO:0019900 kinase binding
GO:0030388 fructose 1,6-bisphosphate metabolic process
GO:0042802 identical protein binding
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046716 muscle cell cellular homeostasis
GO:0046872 metal ion binding
GO:0048029 monosaccharide binding
GO:0061615 glycolytic process through fructose-6-phosphate
GO:0061621 canonical glycolysis
GO:0070061 fructose binding
GO:0070095 fructose-6-phosphate binding

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR000023 Phosphofructokinase domainDomainDomain
IPR009161 ATP-dependent 6-phosphofructokinase, eukaryotic-typeFamilyFamily
IPR015912 Phosphofructokinase, conserved siteSiteConserved site
IPR022953 ATP-dependent 6-phosphofructokinaseFamilyFamily
IPR035966 Phosphofructokinase superfamilyFamilyHomologous superfamily
IPR041914 ATP-dependent 6-phosphofructokinase, vertebrate-typeFamilyFamily

Diseases

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Disease IDSourceNameDescription
232800 OMIMGlycogen storage disease 7 (GSD7)A metabolic disorder characterized by exercise intolerance with associated nausea and vomiting, muscle cramping, exertional myopathy and compensated hemolysis. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop after vigorous exercise. The disease is caused by variants affecting the gene represented in this entry.