Homo sapiens Gene: PFKM
Summary
InnateDB Gene IDBG-29733.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PFKM
Gene Name phosphofructokinase, muscle
Synonyms ATP-PFK; GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122;
Species Homo sapiens
Ensembl Gene ENSG00000152556
Encoded Proteins
phosphofructokinase, muscle
phosphofructokinase, muscle
phosphofructokinase, muscle
phosphofructokinase, muscle
phosphofructokinase, muscle
phosphofructokinase, muscle
phosphofructokinase, muscle
phosphofructokinase, muscle
phosphofructokinase, muscle
phosphofructokinase, muscle
phosphofructokinase, muscle
phosphofructokinase, muscle
phosphofructokinase, muscle
phosphofructokinase, muscle
phosphofructokinase, muscle
phosphofructokinase, muscle
phosphofructokinase, muscle
phosphofructokinase, muscle
phosphofructokinase, muscle
phosphofructokinase, muscle
phosphofructokinase, muscle
phosphofructokinase, muscle
phosphofructokinase, muscle
phosphofructokinase, muscle
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:48105139-48146404
Strand Forward strand
Band q13.11
Transcripts
ENST00000312352 ENSP00000309438
ENST00000340802 ENSP00000345771
ENST00000359794 ENSP00000352842
ENST00000550345 ENSP00000450369
ENST00000549003 ENSP00000449835
ENST00000550924 ENSP00000446945
ENST00000549941 ENSP00000446829
ENST00000550257 ENSP00000447997
ENST00000547581 ENSP00000447992
ENST00000546755 ENSP00000450173
ENST00000549366 ENSP00000449622
ENST00000552792 ENSP00000448940
ENST00000548288 ENSP00000448018
ENST00000547066 ENSP00000448318
ENST00000546964
ENST00000548720
ENST00000552989 ENSP00000447774
ENST00000551548
ENST00000551485 ENSP00000448315
ENST00000551339 ENSP00000448253
ENST00000548345 ENSP00000449269
ENST00000551804 ENSP00000448177
ENST00000549022 ENSP00000446805
ENST00000547587 ENSP00000449426
ENST00000546465 ENSP00000446519
ENST00000547148
ENST00000552752 ENSP00000446740
ENST00000550802
ENST00000552214
ENST00000552818
ENST00000553055 ENSP00000450091
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 28 [view]
Protein-Protein 27 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003872 6-phosphofructokinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008022 protein C-terminus binding
GO:0008443 phosphofructokinase activity
GO:0019900 kinase binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding
GO:0070061 fructose binding
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006002 fructose 6-phosphate metabolic process
GO:0006006 glucose metabolic process
GO:0006096 glycolytic process
GO:0032024 positive regulation of insulin secretion
GO:0042593 glucose homeostasis
GO:0044281 small molecule metabolic process
GO:0046716 muscle cell cellular homeostasis
GO:0046835 carbohydrate phosphorylation
GO:0051259 protein oligomerization
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005945 6-phosphofructokinase complex
GO:0016324 apical plasma membrane
GO:0070062 extracellular vesicular exosome
GO:0097228 sperm principal piece
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Myoclonic epilepsy of Lafora pathway
Metabolism of carbohydrates pathway
Glycolysis pathway
Metabolism pathway
Disease pathway
Glucose metabolism pathway
Glycogen storage diseases pathway
KEGG
Glycolysis / Gluconeogenesis pathway
Pentose phosphate pathway pathway
Fructose and mannose metabolism pathway
Galactose metabolism pathway
INOH
Pentose phosphate cycle pathway
Glycolysis Gluconeogenesis pathway
PID BIOCARTA
Phosphoinositides and their downstream targets [Biocarta view]
PID NCI
Validated targets of C-MYC transcriptional activation
Cross-References
SwissProt
TrEMBL F8VNX2 F8VSL1 F8VW30 F8VZQ1 F8W1J8
UniProt Splice Variant
Entrez Gene 5213
UniGene Hs.75160
RefSeq NM_000289 NM_001166687 NM_001166688 NM_001166686 XM_006719463 XM_005268980 XM_005268978 XM_005268977 XM_005268979 XM_006719464
HUGO HGNC:8877
OMIM 610681
CCDS CCDS8760 CCDS53786
HPRD 01988
IMGT
EMBL AC004801 AC074029
GenPept
RNA Seq Atlas 5213