• Gene id: 5213

Gene Summary

• Gene Symbol: PFKM   Gene   UCSC   Ensembl
• Aliases: ATP-PFK, GSD7, PFK-1, PFK-A, PFK1, PFKA, PFKX, PPP1R122
• Gene name: phosphofructokinase, muscle
• Alternate names: ATP-dependent 6-phosphofructokinase, muscle type, 6-phosphofructo-1-kinase, 6-phosphofructokinase type A, 6-phosphofructokinase, muscle type, phosphofructo-1-kinase isozyme A, phosphofructokinase 1, phosphofructokinase, polypeptide X, phosphofructokinase-M, phosp,
• Gene location: 12q13.11 (23687304: 23685399)     Exons: 1     NC_000015.10
• Gene summary(Entrez): 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. Te
• OMIM: 610681

Protein Summary

• Protein general information: P08237  
  • Name: ATP dependent 6 phosphofructokinase, muscle type (ATP PFK) (PFK M) (EC 2.7.1.11) (6 phosphofructokinase type A) (Phosphofructo 1 kinase isozyme A) (PFK A) (Phosphohexokinase)
  • Length: 780  
  • Mass: 85183
• Sequence:

  MTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLVDGGDHIKEATWESVSM
  MLQLGGTVIGSARCKDFREREGRLRAAYNLVKRGITNLCVIGGDGSLTGADTFRSEWSDLLSDLQKAGKITDEEA
  TKSSYLNIVGLVGSIDNDFCGTDMTIGTDSALHRIMEIVDAITTTAQSHQRTFVLEVMGRHCGYLALVTSLSCGA
  DWVFIPECPPDDDWEEHLCRRLSETRTRGSRLNIIIVAEGAIDKNGKPITSEDIKNLVVKRLGYDTRVTVLGHVQ
  RGGTPSAFDRILGSRMGVEAVMALLEGTPDTPACVVSLSGNQAVRLPLMECVQVTKDVTKAMDEKKFDEALKLRG
  RSFMNNWEVYKLLAHVRPPVSKSGSHTVAVMNVGAPAAGMNAAVRSTVRIGLIQGNRVLVVHDGFEGLAKGQIEE
  AGWSYVGGWTGQGGSKLGTKRTLPKKSFEQISANITKFNIQGLVIIGGFEAYTGGLELMEGRKQFDELCIPFVVI
  PATVSNNVPGSDFSVGADTALNTICTTCDRIKQSAAGTKRRVFIIETMGGYCGYLATMAGLAAGADAAYIFEEPF
  TIRDLQANVEHLVQKMKTTVKRGLVLRNEKCNENYTTDFIFNLYSEEGKGIFDSRKNVLGHMQQGGSPTPFDRNF
  ATKMGAKAMNWMSGKIKESYRNGRIFANTPDSGCVLGMRKRALVFQPVAELKDQTDFEHRIPKEQWWLKLRPILK
  ILAKYEIDLDTSDHAHLEHITRKRSGEAAV

• Structural information:
  • Interpro: IPR009161  IPR022953  IPR041914  IPR015912  IPR000023   IPR035966  
  • Prosite: PS00433
  • CDD: cd00764
  • PDB: 4OMT
  • PDBsum: 4OMT
  • STRING: ENSP00000345771
• Other Databases: GeneCards:  PFKM  Malacards:  PFKM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070095	fructose-6-phosphate binding	IBA	molecular function
GO:0051289	protein homotetramerization	IBA	biological process
GO:0006007	glucose catabolic process	IBA	biological process
GO:0061621	canonical glycolysis	IBA	biological process
GO:0048029	monosaccharide binding	IBA	molecular function
GO:0042802	identical protein binding	IBA	molecular function
GO:0030388	fructose 1,6-bisphosphate metabolic process	IBA	biological process
GO:0016208	AMP binding	IBA	molecular function
GO:0016020	membrane	IBA	cellular component
GO:0006002	fructose 6-phosphate metabolic process	IBA	biological process
GO:0005945	6-phosphofructokinase complex	IBA	cellular component
GO:0005524	ATP binding	IBA	molecular function
GO:0003872	6-phosphofructokinase activity	IBA	molecular function
GO:0003872	6-phosphofructokinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006002	fructose 6-phosphate metabolic process	IEA	biological process
GO:0006096	glycolytic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006096	glycolytic process	IEA	biological process
GO:0016310	phosphorylation	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003872	6-phosphofructokinase activity	IEA	molecular function
GO:0061621	canonical glycolysis	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003872	6-phosphofructokinase activity	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0070061	fructose binding	IDA	molecular function
GO:0019900	kinase binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0046716	muscle cell cellular homeostasis	IMP	biological process
GO:0006002	fructose 6-phosphate metabolic process	IDA	biological process
GO:0006002	fructose 6-phosphate metabolic process	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003872	6-phosphofructokinase activity	IEA	molecular function
GO:0006096	glycolytic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006096	glycolytic process	IEA	biological process
GO:0061615	glycolytic process through fructose-6-phosphate	IMP	biological process
GO:0003872	6-phosphofructokinase activity	IMP	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0005945	6-phosphofructokinase complex	IDA	cellular component
GO:0003872	6-phosphofructokinase activity	IDA	molecular function
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0005945	6-phosphofructokinase complex	IDA	cellular component
GO:0003872	6-phosphofructokinase activity	IDA	molecular function
GO:0003872	6-phosphofructokinase activity	ISS	molecular function
GO:0006096	glycolytic process	IMP	biological process
GO:0003872	6-phosphofructokinase activity	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa04152	AMPK signaling pathway
hsa04919	Thyroid hormone signaling pathway
hsa04922	Glucagon signaling pathway
hsa03018	RNA degradation
hsa04066	HIF-1 signaling pathway
hsa01230	Biosynthesis of amino acids
hsa00010	Glycolysis / Gluconeogenesis
hsa05230	Central carbon metabolism in cancer
hsa00051	Fructose and mannose metabolism
hsa00030	Pentose phosphate pathway
hsa00052	Galactose metabolism

Diseases

Associated diseases	References
Glycogen storage disease	KEGG:H00069
Muscle glycogen storage disease	KEGG:H01762
Glycogen storage disease type VII	KEGG:H01945
Glycogen storage disease	KEGG:H00069
Muscle glycogen storage disease	KEGG:H01762
Glycogen storage disease type VII	KEGG:H01945
Glycogen storage disease VII	PMID:1533013
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq