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    PPP1R3A protein phosphatase 1 regulatory subunit 3A [ Homo sapiens (human) ]

    Gene ID: 5506, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Decreased PPP1R3G in pre-eclampsia impairs human trophoblast invasion and migration via Akt/MMP-9 signaling pathway.

    Decreased PPP1R3G in pre-eclampsia impairs human trophoblast invasion and migration via Akt/MMP-9 signaling pathway.
    Shi H, Kong R, Miao X, Gou L, Yin X, Ding Y, Cao X, Meng Q, Gu M, Suo F., Free PMC Article

    12/1/2023
    Genome-wide genotyping study and gene expression measurements of healthy and failing human hearts revealed important regulators and cardiac expression quantitative trait loci. PPP1R3A emerges as a regulator whose network connectivity changes significantly between health and disease. RNA sequencing after PPP1R3A knockdown validates network-based predictions and establish PPP1R3A as a central regulator in heart failure.

    Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure.
    Cordero P, Parikh VN, Chin ET, Erbilgin A, Gloudemans MJ, Shang C, Huang Y, Chang AC, Smith KS, Dewey F, Zaleta K, Morley M, Brandimarto J, Glazer N, Waggott D, Pavlovic A, Zhao M, Moravec CS, Tang WHW, Skreen J, Malloy C, Hannenhalli S, Li H, Ritter S, Li M, Bernstein D, Connolly A, Hakonarson H, Lusis AJ, Margulies KB, Depaoli-Roach AA, Montgomery SB, Wheeler MT, Cappola T, Ashley EA., Free PMC Article

    07/6/2019
    Variant in PPP1R3A is associated with type 2 diabetes.

    Whole-exome sequencing in maya indigenous families: variant in PPP1R3A is associated with type 2 diabetes.
    Sánchez-Pozos K, Ortíz-López MG, Peña-Espinoza BI, de Los Ángeles Granados-Silvestre M, Jiménez-Jacinto V, Verleyen J, Tekola-Ayele F, Sanchez-Flores A, Menjivar M.

    10/27/2018
    In the univariate analyses, TP53, PPP1R3A, and KMT2B were significantly more frequently mutated in interval cancers than in screen-detected cancers.

    Molecular Differences between Screen-Detected and Interval Breast Cancers Are Largely Explained by PAM50 Subtypes.
    Li J, Ivansson E, Klevebring D, Tobin NP, Lindström LS, Holm J, Prochazka G, Cristando C, Palmgren J, Törnberg S, Humphreys K, Hartman J, Frisell J, Rantalainen M, Lindberg J, Hall P, Bergh J, Grönberg H, Czene K.

    02/24/2018
    results demonstrate that hScrib acts as a scaffold to integrate the control of the PP1gamma and ERK signaling pathways and explains how disruption of hScrib localisation can contribute towards the development of human malignancy

    A novel interaction between hScrib and PP1γ downregulates ERK signaling and suppresses oncogene-induced cell transformation.
    Nagasaka K, Seiki T, Yamashita A, Massimi P, Subbaiah VK, Thomas M, Kranjec C, Kawana K, Nakagawa S, Yano T, Taketani Y, Fujii T, Kozuma S, Banks L., Free PMC Article

    09/7/2013
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (6) articles

    Association of a polymorphism of the apolipoprotein E gene with chronic kidney disease in Japanese individuals with metabolic syndrome.
    Yoshida T, Kato K, Fujimaki T, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nishigaki Y, Tanaka M, Nozawa Y, Yamada Y.

    Clinical and genetic associations with hypertriglyceridemic waist in a Canadian aboriginal population.
    Pollex RL, Hanley AJ, Zinman B, Harris SB, Hegele RA.

    PPP1R3 gene (protein phosphatase 1) alterations in colorectal cancer and its relationship to metastasis.
    Hayashida Y, Goi T, Hirono Y, Katayama K, Urano T, Yamaguchi A, Hayashida Y, Goi T, Hirono Y, Katayama K, Urano T, Yamaguchi A.

    [Study on the association of PPP1R3 gene polymorphism with type 2 diabetes in Han population of Anhui province].
    Chen MW, Yang MG, Wang CJ, Wang YM, Xu XP, Liu SQ, Zhang Q, Sun HY.

    Association of the (AU)AT-rich element polymorphism in PPP1R3 with hormonal and metabolic features of polycystic ovary syndrome.
    Alcoser SY, Hara M, Bell GI, Ehrmann DA, Alcoser SY, Hara M, Bell GI, Ehrmann DA.

    [Study on association of PPP1R3 gene 5 bp deletion/insertion within 3'-untranslated region polymorphism with type 2 diabetes].
    Chen MW, Yang MG, Wang CJ, Xu XP, Wang YM, Liu SQ, Zhang Q, Sun HY.

    03/13/2008
    Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)

    Genetic variability in the insulin signalling pathway may contribute to the risk of late onset Alzheimer's disease.
    Liolitsa D, Powell J, Lovestone S., Free PMC Article

    03/13/2008
    Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)See all PubMed (2) articles

    Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.
    Yoshida T, Kato K, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nishigaki Y, Nozawa Y, Yamada Y.

    The association between PPP1R3 gene polymorphisms and type 2 diabetes mellitus.
    Wang G, Qian R, Li Q, Niu T, Chen C, Xu X, Wang G, Qian R, Li Q, Niu T, Chen C, Xu X.

    03/13/2008
    Observational study of genotype prevalence. (HuGE Navigator)

    Allele frequencies for candidate genes in atherosclerosis and diabetes among Trinidadian neonates.
    Hegele RA, Ban MR, Carrington CV, Ramdath DD.

    03/13/2008
    PPP1R3A C1984DeltaAG (stop codon 668) isthe 1st prevalent mutation that directly impairs glycogen synthesis & decreases glycogen levels in human skeletal muscle. It is present in approximately 1 in 70 UK whites.

    A prevalent variant in PPP1R3A impairs glycogen synthesis and reduces muscle glycogen content in humans and mice.
    Savage DB, Zhai L, Ravikumar B, Choi CS, Snaar JE, McGuire AC, Wou SE, Medina-Gomez G, Kim S, Bock CB, Segvich DM, Solanky B, Deelchand D, Vidal-Puig A, Wareham NJ, Shulman GI, Karpe F, Taylor R, Pederson BA, Roach PJ, O'Rahilly S, DePaoli-Roach AA., Free PMC Article

    01/21/2010
    Inactivation of PPP1R3 gene is associated with tumor progression and metastasis of colorectal cancers

    PPP1R3 gene (protein phosphatase 1) alterations in colorectal cancer and its relationship to metastasis.
    Hayashida Y, Goi T, Hirono Y, Katayama K, Urano T, Yamaguchi A, Hayashida Y, Goi T, Hirono Y, Katayama K, Urano T, Yamaguchi A.

    01/21/2010
    We describe a family in which five individuals with severe insulin resistance, but no unaffected family members, were compound heterozygous with respect to frameshift/premature stop mutations in two unlinked genes, PPARG and PPP1R3A

    Digenic inheritance of severe insulin resistance in a human pedigree.
    Savage DB, Agostini M, Barroso I, Gurnell M, Luan J, Meirhaeghe A, Harding AH, Ihrke G, Rajanayagam O, Soos MA, George S, Berger D, Thomas EL, Bell JD, Meeran K, Ross RJ, Vidal-Puig A, Wareham NJ, O'Rahilly S, Chatterjee VK, Schafer AJ.

    01/21/2010
    G(M) promotes glycogen storage and inversely regulates glycogen synthase and glycogen phosphorylase activities, while, specifically, synthase phosphatase activity of G(M)-PP1 is inhibited by glycogen.

    Regulation and function of the muscle glycogen-targeting subunit of protein phosphatase 1 (GM) in human muscle cells depends on the COOH-terminal region and glycogen content.
    Lerín C, Montell E, Nolasco T, Clark C, Brady MJ, Newgard CB, Gómez-Foix AM.

    01/21/2010
    Among the largest cohort of nondiabetic subjects (Caucasian, n = 112), the presence of the deletion allele (ARE-2) was associated with insulin resistance and hyperandrogenemia.

    Association of the (AU)AT-rich element polymorphism in PPP1R3 with hormonal and metabolic features of polycystic ovary syndrome.
    Alcoser SY, Hara M, Bell GI, Ehrmann DA, Alcoser SY, Hara M, Bell GI, Ehrmann DA.

    01/21/2010
    A joint effect between the Asp905 and BMI increases the risk of type 2 diabetes, and Asp905Tyr and ARE polymorphism of PPP1R3 gene are not the major diabetogenic gene variants in Chinese population.

    The association between PPP1R3 gene polymorphisms and type 2 diabetes mellitus.
    Wang G, Qian R, Li Q, Niu T, Chen C, Xu X, Wang G, Qian R, Li Q, Niu T, Chen C, Xu X.

    01/21/2010
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