Homo sapiens Gene: PFKM | |||||||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 12:48105139-48146404 | ||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||
Band | q13.11 | ||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||
REACTOME |
Glycolysis pathway
Myoclonic epilepsy of Lafora pathway
Metabolism of carbohydrates pathway
Metabolism pathway
Disease pathway
Glucose metabolism pathway
Glycogen storage diseases pathway
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KEGG |
Galactose metabolism pathway
Glycolysis / Gluconeogenesis pathway
Pentose phosphate pathway pathway
Fructose and mannose metabolism pathway
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INOH |
Glycolysis Gluconeogenesis pathway
Pentose phosphate cycle pathway
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PID NCI |
Validated targets of C-MYC transcriptional activation
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Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | F8VSF5 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 5213 | ||||||||||||||||||||||
UniGene | Hs.75160 | ||||||||||||||||||||||
RefSeq | NM_000289 NM_001166686 NM_001166687 NM_001166688 XM_005268977 XM_005268978 XM_005268979 XM_005268980 XM_006719463 XM_006719464 | ||||||||||||||||||||||
HUGO | HGNC:8877 | ||||||||||||||||||||||
OMIM | 610681 | ||||||||||||||||||||||
CCDS | CCDS53786 CCDS8760 | ||||||||||||||||||||||
HPRD | 01988 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC004801 AC074029 | ||||||||||||||||||||||
GenPept | |||||||||||||||||||||||
RNA Seq Atlas | 5213 | ||||||||||||||||||||||