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  1. 1
    "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Gerhard D.S., Wagner L., Feingold E.A., Shenmen C.M., Grouse L.H., Schuler G., Klein S.L., Old S., Rasooly R., Good P., Guyer M., Peck A.M., Derge J.G., Lipman D., Collins F.S., Jang W., Sherry S., Feolo M.
    Malek J.
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Category: Sequences.
    Tissue: Cervix.
    Source: UniProtKB/TrEMBL (unreviewed).

    This publication is cited by 50428 other entries.

  2. 2
    "Comparative integromics on the breast cancer-associated gene KIAA1632: clues to a cancer antigen domain."
    Halama N., Grauling-Halama S.A., Beder A., Jager D.
    Int J Oncol 31:205-210(2007) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: We characterized the KIAA1632 gene by computational methods: detailed investigation of the genomic structure protein prediction identification of orthologs in other species and phylogenetic analysis.
    Source: GeneRIF:57724.

    This publication is mapped to 3 other entries.

  3. 3
    "Replication of a genome-wide case-control study of esophageal squamous cell carcinoma."
    Ng D., Hu N., Hu Y., Wang C., Giffen C., Tang Z.Z., Han X.Y., Yang H.H., Lee M.P., Goldstein A.M., Taylor P.R.
    Int J Cancer 123:1610-1615(2008) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:57724.

    This publication is mapped to 87 other entries.

  4. 4
    Category: Function, Pathology & Biotech.
    Annotation: Recessive mutations in EPG5 cause Vici syndrome a multisystem disorder with defective autophagy.
    Source: GeneRIF:57724.

    This publication is mapped to 2 other entries.

  5. 5
    "First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature."
    Ehmke N., Parvaneh N., Krawitz P., Ashrafi M.R., Karimi P., Mehdizadeh M., Krueger U., Hecht J., Mundlos S., Robinson P.N.
    Am. J. Med. Genet. A 164A:3170-3175(2014) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: A mutation affecting the penultimate exon of EPG5 and presenting with typical clinical manifestations of Vici syndrome.
    Source: GeneRIF:57724.

    This publication is mapped to 2 other entries.

  6. 6
    "Two cases of Vici syndrome associated with Idiopathic Thrombocytopenic Purpura (ITP) with a review of the literature."
    Huenerberg K., Hudspeth M., Bergmann S., Pai S., Singh B., Duong A.
    Am J Med Genet A 170A:1343-1346(2016) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: We report two sisters with a nonsense mutation within exon 14 of the EPG5 gene and a phenotype consistent with Vici syndrome.
    Source: GeneRIF:57724.

    This publication is mapped to 3 other entries.

  7. 7
    "Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome."
    Kane M.S., Vilboux T., Wolfe L.A., Lee P.R., Wang Y., Huddleston K.C., Vockley J.G., Niederhuber J.E., Solomon B.D.
    Brain 139:E52-E52(2016) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Sequences.
    Annotation: This article confirms in silico predictions of aberrant splicing in the EPG5 gene due to the mutation NM_020964.2; c.1007A>G p.Gln336Arg.
    Source: GeneRIF:57724.

    This publication is mapped to 2 other entries.

  8. 8
    "Non-parametric Survival Analysis of EPG5 Gene with Age at Onset of Alzheimer's Disease."
    Wang K.S., Liu X., Xie C., Liu Y., Xu C.
    J Mol Neurosci 60:436-444(2016) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Seven SNPs were significantly associated with the risk of Alzheimer disease and eight SNPs were associated with the age at onset of AD.
    Source: GeneRIF:57724.

    This publication is mapped to 3 other entries.

  9. 9
    "The Vici Syndrome Protein EPG5 Is a Rab7 Effector that Determines the Fusion Specificity of Autophagosomes with Late Endosomes/Lysosomes."
    Wang Z., Miao G., Xue X., Guo X., Yuan C., Wang Z., Zhang G., Chen Y., Feng D., Hu J., Zhang H.
    Mol Cell 63:781-795(2016) [PubMed] [Europe PMC] [Abstract]
    Category: Subcellular Location.
    Annotation: The Vici syndrome protein EPG5 is a Rab7 effector that determines the fusion specificity of autophagosomes with late endosomes/lysosomes.
    Source: GeneRIF:57724.

    This publication is mapped to 8 other entries.

  10. 10
    "Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation."
    Maillard C., Cavallin M., Piquand K., Philbert M., Bault J.P., Millischer A.E., Moshous D., Rio M., Gitiaux C., Boddaert N., Masson C., Thomas S., Bahi-Buisson N.
    Am. J. Med. Genet. A 173:706-711(2017) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Our report further reinforces that EPG5-related Vici syndrome is both a neurodevelopmental disorder which can be diagnosed as early as the second trimester of pregnancy as well as a neurodegenerative disorder.
    Source: GeneRIF:57724.

    This publication is mapped to 2 other entries.

  11. 11
    Category: Pathology & Biotech, Sequences.
    Annotation: To investigate the function of EPG5 siRNA based EPG5 knock-down and CRISPR/Cas9 mediated EPG5 knock-out HeLa cells were generated. EPG5-depleted cells exhibited a complete block of autophagic flux caused by defective autophagosome-lysosome fusion.
    Source: GeneRIF:57724.

    This publication is mapped to 3 other entries.

  12. 12
    Category: Pathology & Biotech, Sequences.
    Annotation: Our findings expand the phenotypical spectrum of EPG5-related Vici syndrome and suggest that this severe condition may already present in utero.
    Source: GeneRIF:57724.

    This publication is mapped to 3 other entries.

  13. 13
    "The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity."
    Piano Mortari E., Folgiero V., Marcellini V., Romania P., Bellacchio E., D'Alicandro V., Bocci C., Carrozzo R., Martinelli D., Petrini S., Axiotis E., Farroni C., Locatelli F., Schara U., Pilz D.T., Jungbluth H., Dionisi-Vici C., Carsetti R.
    Autophagy 14:22-37(2018) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: these findings indicate that EPG5 by controlling nucleic acids intracellular trafficking links macroautophagy/autophagy to innate and adaptive immunity.
    Source: GeneRIF:57724.

    This publication is cited by 1 and mapped to 2 other entries.

  14. 14
    "Autopsy findings in EPG5-related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus."
    Aggarwal S., Tandon A., Bhowmik A.D., Dalal A.
    Am J Med Genet A 176:499-501(2018) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Sequences.
    Annotation: this is a report of a novel EPG5 mutation in a 21 week fetus and its sibling affected with Vici syndrome. This is the second report of brain histology in Vici syndrome in the prenatal period at earliest reported gestation till date; with previously unreported finding of focal cortical microdysgenesis thereby expanding the spectrum of disordered cortical development in this syndrome.
    Source: GeneRIF:57724.

    This publication is mapped to 3 other entries.

  15. 15
    "Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome."
    Shimada S., Hirasawa K., Takeshita A., Nakatsukasa H., Yamamoto-Shimojima K., Imaizumi T., Nagata S., Yamamoto T.
    Am J Med Genet A 176:2803-2807(2018) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: we successfully identified novel compound heterozygous mutations in EPG5 in a patient who was clinically considered to have Vici syndrome.
    Source: GeneRIF:57724.

    This publication is mapped to 3 other entries.

  16. 16
    "EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome."
    Vojcek E., Keszthelyi T.M., Javorszky E., Balogh L., Tory K.
    Ann Hum Genet 84:80-86(2020) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome.
    Source: GeneRIF:57724.

    This publication is mapped to 3 other entries.

  17. 17
    "C-myc/miR-150/EPG5 axis mediated dysfunction of autophagy promotes development of non-small cell lung cancer."
    Li H., Liu J., Cao W., Xiao X., Liang L., Liu-Smith F., Wang W., Liu H., Zhou P., Ouyang R., Yuan Z., Liu J., Ye M., Zhang B.
    Theranostics 9:5134-5148(2019) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: C-myc/miR-150/EPG5 axis mediated dysfunction of autophagy promotes development of non-small cell lung cancer.
    Source: GeneRIF:57724.

    This publication is mapped to 64 other entries.

1 to 17 of 17  Show
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