Property Summary

NCBI Gene PubMed Count 56
PubMed Score 295.53
PubTator Score 131.08

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
Multiple myeloma 1.104 8.3e-03
malignant mesothelioma -1.900 1.3e-07
primary pancreatic ductal adenocarcinoma 1.098 1.7e-02
lung cancer -1.700 2.5e-04
group 3 medulloblastoma -1.400 3.4e-03
acute myeloid leukemia -1.100 1.2e-02
ovarian cancer -2.100 1.2e-06
pancreatic cancer 1.100 7.3e-03

Protein-protein Interaction (2)

Gene RIF (18)

PMID Text
26337471 Data indicate that 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase3 (PFKFB3) and phosphofructokinase (PFK1) expression allows discrimination between induced pluripotent stem cells (iPS) and cancer stem cells (CSCs).
25985179 characterize three PFK1 mutations and show they have distinct effects on allosteric regulation of PFKP activity and lactate production.
24493630 Gene-based analysis identified an association between breast cancer and the phosphofructokinase-muscle (PFKM) gene on chromosome 12q13.11 that met the genome-wide gene-based threshold of 2.5 x 10(-6).
24306210 insulin/phosphofructokinase (PFKM), overlaps with an expression quantitative trait loci
22995305 Asp(543)Ala, a naturally occurring Tarui disease-causing mutation in the activating binding site, causes an increased efficacy of ATP at the inhibitory allosteric binding site.
22474333 eukaryotic Pfk did not evolve from prokaryotic ancestors, reciprocal linkage of functionally opposed allosteric binding sites must have developed independently in prokaryotic and eukaryotic Pfk (convergent evolution).
22133655 Molecular genetic findings demonstrated the absence of specific genotype-phenotype correlations in PFKM gene mutations.
21573193 Posttranslational modification of PFK1 enzyme might be the pivotal factor of deregulated glycolytic flux in tumors
21124851 Data indicate that substitution of residue at the citrate-binding site (D591V) of PFK-M resulted in the complete loss of activity.
20800603 Observational study of gene-disease association. (HuGE Navigator)
20602615 Observational study of gene-disease association. (HuGE Navigator)
20483646 Glycolytic efficiency, which is important for the survival of cancer cells, depends primarily on the preferential expression of PFK-L over the M and P isoforms.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19165527 Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
18996102 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18854154 Knockdown of phosphofructokinase (muscle, PFKM) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1
17544406 Two phosphofructokinase (PFK) chimeras were constructed by exchanging the N- and C-terminal halves of the mammalian M- and C-type isozymes.
15020257 Identification of novel PFK-M transcripts in the testis and embryo.

AA Sequence

MTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLVDGGDHIKEATW      1 - 70
ESVSMMLQLGGTVIGSARCKDFREREGRLRAAYNLVKRGITNLCVIGGDGSLTGADTFRSEWSDLLSDLQ     71 - 140
KAGKITDEEATKSSYLNIVGLVGSIDNDFCGTDMTIGTDSALHRIMEIVDAITTTAQSHQRTFVLEVMGR    141 - 210
HCGYLALVTSLSCGADWVFIPECPPDDDWEEHLCRRLSETRTRGSRLNIIIVAEGAIDKNGKPITSEDIK    211 - 280
NLVVKRLGYDTRVTVLGHVQRGGTPSAFDRILGSRMGVEAVMALLEGTPDTPACVVSLSGNQAVRLPLME    281 - 350
CVQVTKDVTKAMDEKKFDEALKLRGRSFMNNWEVYKLLAHVRPPVSKSGSHTVAVMNVGAPAAGMNAAVR    351 - 420
STVRIGLIQGNRVLVVHDGFEGLAKGQIEEAGWSYVGGWTGQGGSKLGTKRTLPKKSFEQISANITKFNI    421 - 490
QGLVIIGGFEAYTGGLELMEGRKQFDELCIPFVVIPATVSNNVPGSDFSVGADTALNTICTTCDRIKQSA    491 - 560
AGTKRRVFIIETMGGYCGYLATMAGLAAGADAAYIFEEPFTIRDLQANVEHLVQKMKTTVKRGLVLRNEK    561 - 630
CNENYTTDFIFNLYSEEGKGIFDSRKNVLGHMQQGGSPTPFDRNFATKMGAKAMNWMSGKIKESYRNGRI    631 - 700
FANTPDSGCVLGMRKRALVFQPVAELKDQTDFEHRIPKEQWWLKLRPILKILAKYEIDLDTSDHAHLEHI    701 - 770
TRKRSGEAAV                                                                771 - 780
//

Text Mined References (62)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26337471 2015 The expression pattern of PFKFB3 enzyme distinguishes between induced-pluripotent stem cells and cancer stem cells.
25985179 2015 Structures of human phosphofructokinase-1 and atomic basis of cancer-associated mutations.
25416956 2014 A proteome-scale map of the human interactome network.
25199915 2015 GWAS of longevity in CHARGE consortium confirms APOE and FOXO3 candidacy.
24493630 2014 A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.
24427140 2013 First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene.
24306210 2014 Expression of phosphofructokinase in skeletal muscle is influenced by genetic variation and associated with insulin sensitivity.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22995305 2012 Altered allosteric regulation of muscle 6-phosphofructokinase causes Tarui disease.
22474333 2012 Functional linkage of adenine nucleotide binding sites in mammalian muscle 6-phosphofructokinase.
22133655 2012 Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).
21988832 2011 Toward an understanding of the protein interaction network of the human liver.
21573193 2011 Posttranslational modification of 6-phosphofructo-1-kinase as an important feature of cancer metabolism.
21269460 2011 Initial characterization of the human central proteome.
21124851 2010 Evolution of allosteric citrate binding sites on 6-phosphofructo-1-kinase.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
20602615 2010 Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
20483646 2010 Differential expression of phosphofructokinase-1 isoforms correlates with the glycolytic efficiency of breast cancer cells.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19165527 2009 Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.
18996102 2009 Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17544406 2007 Chimeric phosphofructokinases involving exchange of the N- and C-terminal halves of mammalian isozymes: implications for ligand binding sites.
16541075 2006 The finished DNA sequence of human chromosome 12.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15020257 2004 Novel testis- and embryo-specific isoforms of the phosphofructokinase-1 muscle type gene.
14760703 2004 Proteomic identification of brain proteins that interact with dynein light chain LC8.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12649290 2003 The a-subunit of the V-type H+-ATPase interacts with phosphofructokinase-1 in humans.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12432079 2002 Subcellular targeting of metabolic enzymes to titin in heart muscle may be mediated by DRAL/FHL-2.
10187848 1999 Interaction of neuronal nitric-oxide synthase and phosphofructokinase-M.
9443500 1998 Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria.
9389749 1997 Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance.
9252390 1997 Association of phosphofructokinase-M with caveolin-3 in differentiated skeletal myotubes. Dynamic regulation by extracellular glucose and intracellular metabolites.
8889589 1996 Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8780720 1996 Isozyme analysis of human polymorphonuclear leukocyte phosphofructokinase from insulin resistant individuals.
8661033 1996 Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): reassignment to human chromosome 12q.
8444874 1993 A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease).
8037209 1994 Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.
7825568 1995 Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.
7550225 1995 Mutations in muscle phosphofructokinase gene.
7513946 1994 Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.
7479776 1995 Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.
6459054 1981 Muscle phosphofructokinase deficiency in man: expression of the defect in blood cells and cultured fibroblasts.
6451249 1981 Isozymes of human phosphofructokinase in blood cells and cultured cell lines: molecular and genetic evidence for a trigenic system.
6444721 1980 Isozymes of human phosphofructokinase: identification and subunit structural characterization of a new system.
6444532 1980 The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy.
2960695 1987 Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII.
2822475 1987 Cloning of human muscle phosphofructokinase cDNA.
2526045 1989 Cloning and expression of a human muscle phosphofructokinase cDNA.
2526044 1989 Human 6-phosphofructo-1-kinase gene has an additional intron upstream of start codon.
2140573 1990 Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site.
2140567 1990 Alternative splicing of the transcript encoding the human muscle isoenzyme of phosphofructokinase.
1833270 1991 Structure of the entire human muscle phosphofructokinase-encoding gene: a two-promoter system.
156693 1979 Phosphofructokinase (PFK) isozymes in man. I. Studies of adult human tissues.
125160 1975 Erythrocyte phosphofructokinase deficiency associated with an unstable variant of muscle phosphofructokinase.