Property Summary

NCBI Gene PubMed Count 56
Grant Count 39
R01 Count 35
Funding $3,402,853.4
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 0.008
malignant mesothelioma -1.900 0.000
primary pancreatic ductal adenocarcinoma 1.098 0.017
lung cancer -1.700 0.000
group 3 medulloblastoma -1.400 0.003
acute myeloid leukemia -1.100 0.012
ovarian cancer -2.100 0.000
pancreatic cancer 1.100 0.007

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)
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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.
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