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    MCM3AP minichromosome maintenance complex component 3 associated protein [ Homo sapiens (human) ]

    Gene ID: 8888, updated on 10-Oct-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Two Cases of Periodic Paralysis Associated With MCM3AP Variants.

    Two Cases of Periodic Paralysis Associated With MCM3AP Variants.
    Oishi T, Pagano J, Sellers C, Jerath NU.

    08/25/2023
    Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.

    Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
    Woldegebriel R, Kvist J, Andersson N, Õunap K, Reinson K, Wojcik MH, Bijlsma EK, Hoffer MJV, Ryan MM, Stark Z, Walsh M, Cuppen I, van den Boogaard MH, Bharucha-Goebel D, Donkervoort S, Winchester S, Zori R, Bönnemann CG, Maroofian R, O'Connor E, Houlden H, Zhao F, Carpén O, White M, Sreedharan J, Stewart M, Ylikallio E, Tyynismaa H., Free PMC Article

    08/14/2021
    Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease.

    Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease.
    Dong HL, Wei Q, Li JQ, Li HF, Bai G, Ma H, Wu ZY.

    06/5/2021
    Long noncoding RNA MCM3AP antisense RNA 1 is downregulated in chronic obstructive pulmonary disease and regulates human bronchial smooth muscle cell proliferation.

    Long noncoding RNA MCM3AP antisense RNA 1 is downregulated in chronic obstructive pulmonary disease and regulates human bronchial smooth muscle cell proliferation.
    Zhao K, Tu C, Liang K, Li Y, Yu Y., Free PMC Article

    05/8/2021
    The critical role of germinal center-associated nuclear protein in cell biology, immunohematology, and hematolymphoid oncogenesis.

    The critical role of germinal center-associated nuclear protein in cell biology, immunohematology, and hematolymphoid oncogenesis.
    Sakai Y, Phimsen S, Okada S, Kuwahara K.

    01/16/2021
    MCM3AP encodes germinal center-associated nuclear protein (GANP), a protein involved in the export of certain messenger RNAs from the nucleus to the cytoplasm

    Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport.
    Gustavsson EK, Follett J, Farrer MJ, Aasly JO.

    01/11/2020
    The G allele of rs2839178 at the GANP locus was significantly associated with reduced breast cancer risk and longer disease-free survival in breast cancer patients, showing a consistent direction in the association between susceptibility and clinical outcome.

    Impact of germinal center-associated nuclear protein polymorphisms on breast cancer risk and prognosis in a Japanese population.
    Kotani H, Ito H, Kuwahara K, Kuzushima K, Iwata H, Tsunoda N, Nagino M, Matsuo K.

    01/4/2020
    Circular RNA MCM3AP-AS1 directly bound to miR-194-5p and acted as competing endogenous RNA while subsequently facilitating miR-194-5p target gene FOXA1 expression in hepatocellular carcinoma cells.

    A novel lncRNA MCM3AP-AS1 promotes the growth of hepatocellular carcinoma by targeting miR-194-5p/FOXA1 axis.
    Wang Y, Yang L, Chen T, Liu X, Guo Y, Zhu Q, Tong X, Yang W, Xu Q, Huang D, Tu K., Free PMC Article

    06/15/2019
    The identification of MCM3AP variants in affected individuals from multiple centres establishes it as a disease gene for childhood-onset recessively inherited Charcot-Marie-Tooth neuropathy with intellectual disability.

    MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
    Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard MH, Boycott KM, Kauppi L, Jordanova A, Lönnqvist T, Tyynismaa H.

    09/23/2017
    MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child

    MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child.
    Gatz SA, Salles D, Jacobsen EM, Dörk T, Rausch T, Aydin S, Surowy H, Volcic M, Vogel W, Debatin KM, Stütz AM, Schwarz K, Pannicke U, Hess T, Korbel JO, Schulz AS, Schumacher J, Wiesmüller L.

    12/24/2016
    These results indicated that the GANP protein is associated with breast cancer resistance.

    GANP protein encoded on human chromosome 21/mouse chromosome 10 is associated with resistance to mammary tumor development.
    Kuwahara K, Yamamoto-Ibusuki M, Zhang Z, Phimsen S, Gondo N, Yamashita H, Takeo T, Nakagata N, Yamashita D, Fukushima Y, Yamamoto Y, Iwata H, Saya H, Kondo E, Matsuo K, Takeya M, Iwase H, Sakaguchi N., Free PMC Article

    08/27/2016
    GANP is induced in activated T4 cells & physically interacts with A3G. GANP is encapsidated in HIV-1 virions & modulates A3G packaging into the cores. Upregulation increases A3G-catalyzed viral G-->A hypermutation, suppressing infectivity.

    GANP interacts with APOBEC3G and facilitates its encapsidation into the virions to reduce HIV-1 infectivity.
    Maeda K, Almofty SA, Singh SK, Eid MMA, Shimoda M, Ikeda T, Koito A, Pham P, Goodman MF, Sakaguchi N., Free PMC Article

    02/22/2014
    A homozygous potentially pathogenic variant (c.2743G>A) was identified, which encodes amino acid Lys, instead of conserved Glu, at the position 915, in patients with mild intellectual disability.

    Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
    Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE, van de Vondervoort II, van Bon BW, de Ligt J, Gilissen C, Hehir-Kwa JY, Neveling K, del Rosario M, Hira G, Reitano S, Vitello A, Failla P, Greco D, Fichera M, Galesi O, Kleefstra T, Greally MT, Ockeloen CW, Willemsen MH, Bongers EM, Janssen IM, Pfundt R, Veltman JA, Romano C, Willemsen MA, van Bokhoven H, Brunner HG, de Vries BB, de Brouwer AP.

    01/14/2014
    GANP-mediated chromatin modification promotes transcription complex recruitment and positioning at immunoglobulin variable loci to favour AID targeting.

    GANP regulates recruitment of AID to immunoglobulin variable regions by modulating transcription and nucleosome occupancy.
    Singh SK, Maeda K, Eid MM, Almofty SA, Ono M, Pham P, Goodman MF, Sakaguchi N., Free PMC Article

    01/4/2014
    The cellular protein MCM3AP is required for inhibition of cellular DNA synthesis by the IE86 protein of human cytomegalovirus.

    The cellular protein MCM3AP is required for inhibition of cellular DNA synthesis by the IE86 protein of human cytomegalovirus.
    Poole E, Bain M, Teague L, Takei Y, Laskey R, Sinclair J., Free PMC Article

    04/6/2013
    HBV DNA integration sites into human genome were random, and MCM3AP was a new site.

    MCM3AP, a novel HBV integration site in hepatocellular carcinoma and its implication in hepatocarcinogenesis.
    Wang J, Lin J, Chang Y, Li P, Yang Y.

    01/26/2013
    GANP, a homologue of yeast Sac3 that is involved in mRNA export, is indispensable for ensuring the stability of human genomic DNA and GANP knockdown causes apoptosis and necrosis of p53-insufficient cancer cells.

    Selective cell death of p53-insufficient cancer cells is induced by knockdown of the mRNA export molecule GANP.
    Phimsen S, Kuwahara K, Nakaya T, Ohta K, Suda T, Rezano A, Kitabatake M, Vaeteewoottacharn K, Okada S, Tone S, Sakaguchi N.

    12/22/2012
    GANP transgene may play a critical role in Lyn tyrosine-protein kinase-mediated signaling during selection of high-affinity B cells in peripheral lymphoid organs.

    Lyn signaling to upregulate GANP is critical for the survival of high-affinity B cells in germinal centers of lymphoid organs.
    Kuwahara K, Nakaya T, Phimsen S, Toda T, Kitabatake M, Kaji T, Takemori T, Watanabe T, Sakaguchi N.

    12/8/2012
    MCM3AP and GANP are different proteins, occupying different locations in the cell and transcribed from different promoters

    MCM3AP is transcribed from a promoter within an intron of the overlapping gene for GANP.
    Wickramasinghe VO, McMurtrie PI, Marr J, Amagase Y, Main S, Mills AD, Laskey RA, Takei Y., Free PMC Article

    06/18/2011
    Data show that human germinal center-associated nuclear protein (GANP) is critically involved in cell proliferation at the mitotic phase through its selective support of shugoshin-1 mRNA export.

    Germinal center-associated nuclear protein (GANP) is involved in mRNA export of Shugoshin-1 required for centromere cohesion and in sister-chromatid exchange.
    Okamoto N, Kuwahara K, Ohta K, Kitabatake M, Takagi K, Mizuta H, Kondo E, Sakaguchi N.

    09/27/2010
    GANP may serve as an essential link required to transport AID to B-cell nuclei and to target AID to actively transcribed IgV regions

    GANP-mediated recruitment of activation-induced cytidine deaminase to cell nuclei and to immunoglobulin variable region DNA.
    Maeda K, Singh SK, Eda K, Kitabatake M, Pham P, Goodman MF, Sakaguchi N., Free PMC Article

    09/20/2010
    GANP depletion inhibits mRNA export, with retention of mRNPs and NXF1 in punctate foci within the nucleus.

    mRNA export from mammalian cell nuclei is dependent on GANP.
    Wickramasinghe VO, McMurtrie PI, Mills AD, Takei Y, Penrhyn-Lowe S, Amagase Y, Main S, Marr J, Stewart M, Laskey RA., Free PMC Article

    05/31/2010
    GANP protects cells from cellular senescence caused by DNA damage and that a significant decrease in GANP expression leads to malignancy by generating hyperploidy and chromosomal instability (CIN).

    Decreased expression of germinal center-associated nuclear protein is involved in chromosomal instability in malignant gliomas.
    Ohta K, Kuwahara K, Zhang Z, Makino K, Komohara Y, Nakamura H, Kuratsu J, Sakaguchi N., Free PMC Article

    01/21/2010
    abnormal over-expression of GANP together with AID might be associated with rigorous DNA damage, potentially causing the malignant development of Cholangiocarcinoma (CCAs) during long-term inflammation.

    Cholangiocarcinomas associated with long-term inflammation express the activation-induced cytidine deaminase and germinal center-associated nuclear protein involved in immunoglobulin V-region diversification.
    Chan-On W, Kuwahara K, Kobayashi N, Ohta K, Shimasaki T, Sripa B, Leelayuwat C, Sakaguchi N.

    01/21/2010
    inhibits initiation of DNA replication via binding to MCM3

    The MCM3 acetylase MCM3AP inhibits initiation, but not elongation, of DNA replication via interaction with MCM3.
    Takei Y, Assenberg M, Tsujimoto G, Laskey R.

    01/21/2010
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