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Ask your administrator if you think this is wrong. ======= PFKM ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: PFKM * **<color #00a2e8>Official Name</color>**: phosphofructokinase, muscle * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=5213|5213]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P08237|P08237]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PFKM&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PFKM|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/610681|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |PFK| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |6-phosphofructokinase complex| |6-phosphofructokinase activity| |fructose-6-phosphate binding| |fructose binding| |fructose 1,6-bisphosphate metabolic process| |fructose 6-phosphate metabolic process| |AMP binding| |monosaccharide binding| |muscle cell cellular homeostasis| |NADH regeneration| |glucose catabolic process to pyruvate| |canonical glycolysis| |glycolytic process through glucose-6-phosphate| |glycolytic process through fructose-6-phosphate| |glucose catabolic process| |NADH metabolic process| |glycolytic process| |ATP generation from ADP| |NAD metabolic process| |ADP metabolic process| |hexose catabolic process| |nucleoside diphosphate phosphorylation| |purine ribonucleoside diphosphate metabolic process| |nucleotide phosphorylation| |monosaccharide catabolic process| |purine nucleoside diphosphate metabolic process| |ribonucleoside diphosphate metabolic process| |pyruvate metabolic process| |nucleoside diphosphate metabolic process| |kinase binding| |protein homotetramerization| |glucose metabolic process| |carbohydrate catabolic process| |protein tetramerization| |hexose metabolic process| |protein C-terminus binding| |monosaccharide metabolic process| |ATP metabolic process| |purine ribonucleotide metabolic process| |apical plasma membrane| |ribonucleotide metabolic process| |purine nucleotide metabolic process| |ribose phosphate metabolic process| |protein homooligomerization| |anatomical structure homeostasis| |purine-containing compound metabolic process| |generation of precursor metabolites and energy| |small molecule catabolic process| |nucleotide metabolic process| |nucleoside phosphate metabolic process| |carbohydrate metabolic process| |protein complex oligomerization| |monocarboxylic acid metabolic process| |nucleobase-containing small molecule metabolic process| |organophosphate metabolic process| |cellular homeostasis| |carboxylic acid metabolic process| |oxidation-reduction process| |oxoacid metabolic process| |organic acid metabolic process| |carbohydrate derivative metabolic process| |identical protein binding| |positive regulation of transcription by RNA polymerase II| |phosphorylation| |ATP binding| |positive regulation of transcription, DNA-templated| |protein-containing complex assembly| |positive regulation of nucleic acid-templated transcription| |positive regulation of RNA biosynthetic process| |homeostatic process| |positive regulation of RNA metabolic process| |small molecule metabolic process| |organic substance catabolic process| |protein-containing complex subunit organization| |positive regulation of nucleobase-containing compound metabolic process| |positive regulation of macromolecule biosynthetic process| |positive regulation of cellular biosynthetic process| |positive regulation of gene expression| |membrane| |positive regulation of biosynthetic process| </modal> \\ === CRISPR Data === <button type='default' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> No hits were found. </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> ^Gene^Correlation^ |[[:human genes:r:rrm1|RRM1]]|0.612| </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 2988 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 7.27 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='PFKM Expression in NALM6 Cells: 7.27'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1