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    PFKM phosphofructokinase, muscle [ Homo sapiens (human) ]

    Gene ID: 5213, updated on 3-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Cancer-associated somatic mutations in human phosphofructokinase-1 reveal a critical electrostatic interaction for allosteric regulation of enzyme activity.

    Cancer-associated somatic mutations in human phosphofructokinase-1 reveal a critical electrostatic interaction for allosteric regulation of enzyme activity.
    Voronkova MA, Hansen HL, Cooper MP, Miller J, Sukumar N, Geldenhuys WJ, Robart AR, Webb BA., Free PMC Article

    09/8/2023
    RNAi screening reveals a synthetic chemical-genetic interaction between ATP synthase and PFK1 in cancer cells.

    RNAi screening reveals a synthetic chemical-genetic interaction between ATP synthase and PFK1 in cancer cells.
    Kobayashi H, Takase S, Nishimura H, Matsumoto K, Harada H, Yoshida M., Free PMC Article

    04/7/2023
    Bone marrow mesenchymal stem cell-derived exosomal miR-21a-5p alleviates renal fibrosis by attenuating glycolysis by targeting PFKM.

    Bone marrow mesenchymal stem cell-derived exosomal miR-21a-5p alleviates renal fibrosis by attenuating glycolysis by targeting PFKM.
    Xu S, Cheuk YC, Jia Y, Chen T, Chen J, Luo Y, Cao Y, Guo J, Dong L, Zhang Y, Shi Y, Rong R., Free PMC Article

    10/22/2022
    Association of PFKM gene polymorphisms and susceptibility to cryptorchidism in a Chinese Han population.

    Association of PFKM gene polymorphisms and susceptibility to cryptorchidism in a Chinese Han population.
    Long S, Zhang R, Yang Q, Wang Y, Song Y, Zhou B, Zhang L.

    08/13/2022
    Expression of HK2, PKM2, and PFKM Is Associated with Metastasis and Late Disease Onset in Breast Cancer Patients.

    Expression of HK2, PKM2, and PFKM Is Associated with Metastasis and Late Disease Onset in Breast Cancer Patients.
    Ishfaq M, Bashir N, Riaz SK, Manzoor S, Khan JS, Bibi Y, Sami R, Aljahani AH, Alharthy SA, Shahid R., Free PMC Article

    04/23/2022
    RNAi-mediated knockdown of PFK1 decreases the invasive capability and metastasis of nasopharyngeal carcinoma cell line, CNE-2.

    RNAi-mediated knockdown of PFK1 decreases the invasive capability and metastasis of nasopharyngeal carcinoma cell line, CNE-2.
    Li S, He P, Wang Z, Liang M, Liao W, Huang Y, Chi M, Liu F, Zen N, Su R, Chen S, Liu Z, Hong H., Free PMC Article

    12/4/2021
    PFK activation is essential for the odontogenic differentiation of human dental pulp stem cells.

    PFK activation is essential for the odontogenic differentiation of human dental pulp stem cells.
    Jeon SM, Lim JS, Kim HR, Lee JH.

    09/4/2021
    TRAP1 enhances Warburg metabolism through modulation of PFK1 expression/activity and favors resistance to EGFR inhibitors in human colorectal carcinomas.

    TRAP1 enhances Warburg metabolism through modulation of PFK1 expression/activity and favors resistance to EGFR inhibitors in human colorectal carcinomas.
    Maddalena F, Condelli V, Matassa DS, Pacelli C, Scrima R, Lettini G, Li Bergolis V, Pietrafesa M, Crispo F, Piscazzi A, Storto G, Capitanio N, Esposito F, Landriscina M., Free PMC Article

    09/4/2021
    ZEB1 enhances Warburg effect to facilitate tumorigenesis and metastasis of HCC by transcriptionally activating PFKM.

    ZEB1 enhances Warburg effect to facilitate tumorigenesis and metastasis of HCC by transcriptionally activating PFKM.
    Zhou Y, Lin F, Wan T, Chen A, Wang H, Jiang B, Zhao W, Liao S, Wang S, Li G, Xu Z, Wang J, Zhang J, Ma H, Lin D, Li Q., Free PMC Article

    07/31/2021
    Biochemical and transcript level differences between the three human phosphofructokinases show optimisation of each isoform for specific metabolic niches.

    Biochemical and transcript level differences between the three human phosphofructokinases show optimisation of each isoform for specific metabolic niches.
    Fernandes PM, Kinkead J, McNae I, Michels PAM, Walkinshaw MD., Free PMC Article

    03/13/2021
    The authors experimentally provide evidence for pulsatile PFK-1 activity-induced synchronized dissociation of PKM2 tetramers and the subsequent accumulation of PKM2 dimers under high levels of fructose-1,6-bisphosphate in HeLa cells.

    Glycolytic reprogramming in cancer cells: PKM2 dimer predominance induced by pulsatile PFK-1 activity.
    Shi X, You L, Luo RY.

    03/28/2020
    MiR-135 targets phosphofructokinase-1 in the ancreatic ductal adenocarcinoma cells.

    MiR-135 suppresses glycolysis and promotes pancreatic cancer cell adaptation to metabolic stress by targeting phosphofructokinase-1.
    Yang Y, Ishak Gabra MB, Hanse EA, Lowman XH, Tran TQ, Li H, Milman N, Liu J, Reid MA, Locasale JW, Gil Z, Kong M., Free PMC Article

    04/20/2019
    KLK6 may be the key protease involved in the proteolytic modification of PFK-M.

    Kallikrein-related peptidase 6 can cleave human-muscle-type 6-phosphofructo-1-kinase into highly active shorter fragments.
    Andrejc D, Legiša M.

    08/4/2018
    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).

    The expression pattern of PFKFB3 enzyme distinguishes between induced-pluripotent stem cells and cancer stem cells.
    Cieślar-Pobuda A, Jain MV, Kratz G, Rzeszowska-Wolny J, Ghavami S, Wiechec E., Free PMC Article

    08/6/2016
    characterize three PFK1 mutations and show they have distinct effects on allosteric regulation of PFKP activity and lactate production.

    Structures of human phosphofructokinase-1 and atomic basis of cancer-associated mutations.
    Webb BA, Forouhar F, Szu FE, Seetharaman J, Tong L, Barber DL., Free PMC Article

    08/8/2015
    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).

    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.
    Ahsan H, Halpern J, Kibriya MG, Pierce BL, Tong L, Gamazon E, McGuire V, Felberg A, Shi J, Jasmine F, Roy S, Brutus R, Argos M, Melkonian S, Chang-Claude J, Andrulis I, Hopper JL, John EM, Malone K, Ursin G, Gammon MD, Thomas DC, Seminara D, Casey G, Knight JA, Southey MC, Giles GG, Santella RM, Lee E, Conti D, Duggan D, Gallinger S, Haile R, Jenkins M, Lindor NM, Newcomb P, Michailidou K, Apicella C, Park DJ, Peto J, Fletcher O, dos Santos Silva I, Lathrop M, Hunter DJ, Chanock SJ, Meindl A, Schmutzler RK, Müller-Myhsok B, Lochmann M, Beckmann L, Hein R, Makalic E, Schmidt DF, Bui QM, Stone J, Flesch-Janys D, Dahmen N, Nevanlinna H, Aittomäki K, Blomqvist C, Hall P, Czene K, Irwanto A, Liu J, Rahman N, Turnbull C, Familial Breast Cancer Study, Dunning AM, Pharoah P, Waisfisz Q, Meijers-Heijboer H, Uitterlinden AG, Rivadeneira F, Nicolae D, Easton DF, Cox NJ, Whittemore AS., Free PMC Article

    01/24/2015
    insulin/phosphofructokinase (PFKM), overlaps with an expression quantitative trait loci

    Expression of phosphofructokinase in skeletal muscle is influenced by genetic variation and associated with insulin sensitivity.
    Keildson S, Fadista J, Ladenvall C, Hedman ÅK, Elgzyri T, Small KS, Grundberg E, Nica AC, Glass D, Richards JB, Barrett A, Nisbet J, Zheng HF, Rönn T, Ström K, Eriksson KF, Prokopenko I, MAGIC Consortium, DIAGRAM Consortium, MuTHER Consortium, Spector TD, Dermitzakis ET, Deloukas P, McCarthy MI, Rung J, Groop L, Franks PW, Lindgren CM, Hansson O., Free PMC Article

    04/26/2014
    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.

    Altered allosteric regulation of muscle 6-phosphofructokinase causes Tarui disease.
    Brüser A, Kirchberger J, Schöneberg T.

    03/2/2013
    Molecular genetic findings demonstrated the absence of specific genotype-phenotype correlations in PFKM gene mutations.

    Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).
    Musumeci O, Bruno C, Mongini T, Rodolico C, Aguennouz M, Barca E, Amati A, Cassandrini D, Serlenga L, Vita G, Toscano A.

    08/4/2012
    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).

    Functional linkage of adenine nucleotide binding sites in mammalian muscle 6-phosphofructokinase.
    Brüser A, Kirchberger J, Kloos M, Sträter N, Schöneberg T., Free PMC Article

    07/28/2012
    Posttranslational modification of PFK1 enzyme might be the pivotal factor of deregulated glycolytic flux in tumors

    Posttranslational modification of 6-phosphofructo-1-kinase as an important feature of cancer metabolism.
    Šmerc A, Sodja E, Legiša M., Free PMC Article

    09/3/2011
    Data indicate that substitution of residue at the citrate-binding site (D591V) of PFK-M resulted in the complete loss of activity.

    Evolution of allosteric citrate binding sites on 6-phosphofructo-1-kinase.
    Usenik A, Legiša M., Free PMC Article

    04/30/2011
    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.

    Differential expression of phosphofructokinase-1 isoforms correlates with the glycolytic efficiency of breast cancer cells.
    Zancan P, Sola-Penna M, Furtado CM, Da Silva D.

    10/23/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (2) articles

    Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanché H, Schreiber S, Nebel A.

    Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
    Ruaño G, Thompson PD, Kane JP, Pullinger CR, Windemuth A, Seip RL, Kocherla M, Holford TR, Wu AH.

    09/15/2010
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    06/30/2010
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