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    MBTPS1 membrane bound transcription factor peptidase, site 1 [ Homo sapiens (human) ]

    Gene ID: 8720, updated on 3-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Hepatic glycogenesis antagonizes lipogenesis by blocking S1P via UDPG.

    Hepatic glycogenesis antagonizes lipogenesis by blocking S1P via UDPG.
    Chen J, Zhou Y, Liu Z, Lu Y, Jiang Y, Cao K, Zhou N, Wang D, Zhang C, Zhou N, Shi K, Zhang L, Zhou L, Wang Z, Zhang H, Tang K, Ma J, Lv J, Huang B.

    06/24/2024
    The Inhibition of the Membrane-Bound Transcription Factor Site-1 Protease (MBTP1) Alleviates the p.Phe508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Defects in Cystic Fibrosis Cells.

    The Inhibition of the Membrane-Bound Transcription Factor Site-1 Protease (MBTP1) Alleviates the p.Phe508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Defects in Cystic Fibrosis Cells.
    Santinelli R, Benz N, Guellec J, Quinquis F, Kocas E, Thomas J, Montier T, Ka C, Luczka-Majérus E, Sage E, Férec C, Coraux C, Trouvé P., Free PMC Article

    02/9/2024
    Targeting the SphK1/S1P/PFKFB3 axis suppresses hepatocellular carcinoma progression by disrupting glycolytic energy supply that drives tumor angiogenesis.

    Targeting the SphK1/S1P/PFKFB3 axis suppresses hepatocellular carcinoma progression by disrupting glycolytic energy supply that drives tumor angiogenesis.
    Liu XT, Huang Y, Liu D, Jiang YC, Zhao M, Chung LH, Han XD, Zhao Y, Chen J, Coleman P, Ting KK, Tran C, Su Y, Dennis CV, Bhatnagar A, Liu K, Don AS, Vadas MA, Gorrell MD, Zhang S, Murray M, Kavurma MM, McCaughan GW, Gamble JR, Qi Y., Free PMC Article

    01/16/2024
    Enhancing Spns2/S1P in macrophages alleviates hyperinflammation and prevents immunosuppression in sepsis.

    Enhancing Spns2/S1P in macrophages alleviates hyperinflammation and prevents immunosuppression in sepsis.
    Fang C, Ren P, Bian G, Wang J, Bai J, Huang J, Ding Y, Li X, Li M, Hou Z., Free PMC Article

    08/4/2023
    Sphingosine 1-phosphate alleviates radiation-induced ferroptosis in ovarian granulosa cells by upregulating glutathione peroxidase 4.

    Sphingosine 1-phosphate alleviates radiation-induced ferroptosis in ovarian granulosa cells by upregulating glutathione peroxidase 4.
    Zhao J, Tang M, Tang H, Wang M, Guan H, Tang L, Zhang H.

    02/11/2023
    Targeting SPHK1/S1PR3-regulated S-1-P metabolic disorder triggers autophagic cell death in pulmonary lymphangiomyomatosis (LAM).

    Targeting SPHK1/S1PR3-regulated S-1-P metabolic disorder triggers autophagic cell death in pulmonary lymphangiomyomatosis (LAM).
    Li F, Zhang Y, Lin Z, Yan L, Liu Q, Li Y, Pei X, Feng Y, Han X, Yang J, Zheng F, Li T, Zhang Y, Fu Z, Shao D, Yu J, Li C., Free PMC Article

    01/14/2023
    Proteolytic processing of secretory pathway kinase Fam20C by site-1 protease promotes biomineralization.

    Proteolytic processing of secretory pathway kinase Fam20C by site-1 protease promotes biomineralization.
    Chen X, Zhang J, Liu P, Wei Y, Wang X, Xiao J, Wang CC, Wang L., Free PMC Article

    12/18/2021
    Cleavage of the soluble (pro)renin receptor (sATP6AP2) in the placenta.

    Cleavage of the soluble (pro)renin receptor (sATP6AP2) in the placenta.
    Morosin SK, Delforce SJ, Lumbers ER, Pringle KG.

    10/23/2021
    Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.

    Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.
    Carvalho DR, Speck-Martins CE, Brum JM, Ferreira CR, Sobreira NLM., Free PMC Article

    05/1/2021
    Site-1 protease function is essential for the generation of antibody secreting cells and reprogramming for secretory activity

    Site-1 protease function is essential for the generation of antibody secreting cells and reprogramming for secretory activity.
    Al-Maskari M, Care MA, Robinson E, Cocco M, Tooze RM, Doody GM., Free PMC Article

    11/2/2019
    rs11642644 associated with facial profile

    Genetics of the human face: Identification of large-effect single gene variants.
    Crouch DJM, Winney B, Koppen WP, Christmas WJ, Hutnik K, Day T, Meena D, Boumertit A, Hysi P, Nessa A, Spector TD, Kittler J, Bodmer WF., Free PMC Article

    07/21/2018
    In the absence of S1P, the catalytically inactive alpha/beta-subunit precursor of GlcNAc-1-phosphotransferase fails to be activated and results in missorting of newly synthesized lysosomal enzymes, and lysosomal accumulation of non-degraded material, which are biochemical features of defective GlcNAc-1-phosphotransferase subunits and the associated pediatric lysosomal diseases mucolipidosis type II and III.

    Site-1 protease and lysosomal homeostasis.
    Velho RV, De Pace R, Klünder S, Di Lorenzo G, Schweizer M, Braulke T, Pohl S.

    02/10/2018
    Results suggest that (pro)renin receptor (s(P)RR) is generated by sequential processing by site-1 protease (S1P) and furin protein.

    Site-1 protease is required for the generation of soluble (pro)renin receptor.
    Nakagawa T, Suzuki-Nakagawa C, Watanabe A, Asami E, Matsumoto M, Nakano M, Ebihara A, Uddin MN, Suzuki F.

    06/3/2017
    primordial SKI-1/S1P likely contained a simpler prodomain consisting of the highly conserved AB fragment that represents an independent folding unit

    Mechanism of Folding and Activation of Subtilisin Kexin Isozyme-1 (SKI-1)/Site-1 Protease (S1P).
    da Palma JR, Cendron L, Seidah NG, Pasquato A, Kunz S., Free PMC Article

    06/28/2016
    S1P substrate-dependent regulatory mechanisms for lipid synthesis and biogenesis of lysosomes are different

    Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control.
    Klünder S, Heeren J, Markmann S, Santer R, Braulke T, Pohl S., Free PMC Article

    04/30/2016
    The interaction between S1P and C5a plays an important role in neutrophils for antineutrophil cytoplasmic antibody -mediated activation

    The interaction between C5a and sphingosine-1-phosphate in neutrophils for antineutrophil cytoplasmic antibody mediated activation.
    Hao J, Huang YM, Zhao MH, Chen M., Free PMC Article

    05/16/2015
    Incompletely matured forms of SKI-1/S1P further process cellular and viral substrates in distinct subcellular compartments.

    Zymogen activation and subcellular activity of subtilisin kexin isozyme 1/site 1 protease.
    da Palma JR, Burri DJ, Oppliger J, Salamina M, Cendron L, de Laureto PP, Seidah NG, Kunz S, Pasquato A., Free PMC Article

    04/18/2015
    We show that SKI-1 is constitutively expressed in human pigment cells with higher SKI activity in seven out of eight melanoma cell lines compared with normal melanocytes.

    Inhibition of the prohormone convertase subtilisin-kexin isoenzyme-1 induces apoptosis in human melanoma cells.
    Weiß N, Stegemann A, Elsayed MAT, Schallreuter KU, Luger TA, Loser K, Metze D, Weishaupt C, Böhm M.

    03/8/2014
    Diabetic high-density lipoprotein carries higher levels of S1P compared with normal high-density lipoprotein.

    High-density lipoprotein of patients with type 2 diabetes mellitus upregulates cyclooxgenase-2 expression and prostacyclin I-2 release in endothelial cells: relationship with HDL-associated sphingosine-1-phosphate.
    Tong X, Peng H, Liu D, Ji L, Niu C, Ren J, Pan B, Hu J, Zheng L, Huang Y., Free PMC Article

    10/19/2013
    Y285 of SKI-1 is crucial for the efficient processing of envelope glycoproteins from Old World and clade C New World arenavirus.

    Differential recognition of Old World and New World arenavirus envelope glycoproteins by subtilisin kexin isozyme 1 (SKI-1)/site 1 protease (S1P).
    Burri DJ, da Palma JR, Seidah NG, Zanotti G, Cendron L, Pasquato A, Kunz S., Free PMC Article

    08/3/2013
    The role of MBTPS1 (SKI-1/S1P) peptides in cancer and approaches used to inhibit SKI-1/S1P were studied.

    Novel circular, cyclic and acyclic Ψ(CH(2)O) containing peptide inhibitors of SKI-1/S1P: synthesis, kinetic and biochemical evaluations.
    Majumdar S, Chen A, Palmer-Smith H, Basak A.

    10/1/2011
    study found that the N-acetylglucosamine-1-phosphotransferase alpha/beta-subunit precursor is cleaved by S1P that activates sterol regulatory element-binding proteins in response to cholesterol deprivation; S1P functions in the biogenesis of lysosomes

    A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism.
    Marschner K, Kollmann K, Schweizer M, Braulke T, Pohl S.

    07/16/2011
    Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

    Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article

    09/15/2010
    Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)

    Genetic variation in hyaluronan metabolism loci is associated with plasma plasminogen activator inhibitor-1 concentration.
    Lanktree MB, Johansen CT, Anand SS, Davis AD, Miller R, Yusuf S, Hegele RA, SHARE Investigators, SHARE-AP Investigators.

    09/15/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (2) articles

    Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium.

    Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
    Lu Y, Dollé ME, Imholz S, van 't Slot R, Verschuren WM, Wijmenga C, Feskens EJ, Boer JM.

    09/24/2008
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