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    VPS33B VPS33B late endosome and lysosome associated [ Homo sapiens (human) ]

    Gene ID: 26276, updated on 3-Apr-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B.

    The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B.
    Liu RJY, Al-Molieh Y, Chen SZ, Drobac M, Urban D, Chen CH, Yao HHY, Geng RSQ, Li L, Pluthero FG, Benlekbir S, Rubinstein JL, Kahr WHA., Free PMC Article

    06/28/2023
    Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients.

    Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients.
    Lipiński P, Szczałuba K, Buda P, Zakharova EY, Baydakova G, Ługowska A, Różdzyńska-Świątkowska A, Cyske Z, Węgrzyn G, Pollak A, Płoski R, Tylki-Szymańska A., Free PMC Article

    10/22/2022
    Syntaxin 12 and COMMD3 are new factors that function with VPS33B in the biogenesis of platelet alpha-granules.

    Syntaxin 12 and COMMD3 are new factors that function with VPS33B in the biogenesis of platelet α-granules.
    Ambrosio AL, Febvre HP, Di Pietro SM., Free PMC Article

    02/26/2022
    VPS33B interacts with NESG1 to suppress cell growth and cisplatin chemoresistance in ovarian cancer.

    VPS33B interacts with NESG1 to suppress cell growth and cisplatin chemoresistance in ovarian cancer.
    Ning Y, Zeng Z, Deng Y, Feng W, Huang L, Liu H, Lin J, Zhang C, Fan Y, Liu L., Free PMC Article

    05/15/2021
    Mechanism of platelet alpha-granule biogenesis: study of cargo transport and the VPS33B-VPS16B complex in a model system.

    Mechanism of platelet α-granule biogenesis: study of cargo transport and the VPS33B-VPS16B complex in a model system.
    Ambrosio AL, Di Pietro SM., Free PMC Article

    09/5/2020
    VPS33B is negatively regulated by LMP-1 and nicotine and thus suppresses the proliferation of nasopharyngeal carcinoma (NPC) cells by interacting with NESG1 to regulate EGFR/PI3K/AKT/c-Myc/P53/miR-133a-3p signaling in NPC cells.

    VPS33B interacts with NESG1 to modulate EGFR/PI3K/AKT/c-Myc/P53/miR-133a-3p signaling and induce 5-fluorouracil sensitivity in nasopharyngeal carcinoma.
    Liang Z, Liu Z, Cheng C, Wang H, Deng X, Liu J, Liu C, Li Y, Fang W., Free PMC Article

    05/23/2020
    Results found VPS33B variation c.1726T>C, p.Cys576Arg to be associated with the attenuated phenotype of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome.

    Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome.
    Qiu YL, Liu T, Abuduxikuer K, Hao CZ, Gong JY, Zhang MH, Li LT, Yan YY, Li JQ, Wang JS.

    05/9/2020
    NESG1 also activated VPS33B expression via the RAS/ERK/c-Jun pathway.

    VPS33B negatively modulated by nicotine functions as a tumor suppressor in colorectal cancer.
    Chen Y, Liu Z, Wang H, Tang Z, Liu Y, Liang Z, Deng X, Zhao M, Fu Q, Li L, Cai H, Xie W, Fang W.

    02/8/2020
    Down-regulation of Vps33b expression is a critical step for inflammation-driven hepatocellular carcinoma, and Vps33b serves as an important tumor suppressor in hepatocarcinogenesis.

    Vacuolar Protein Sorting 33B Is a Tumor Suppressor in Hepatocarcinogenesis.
    Wang C, Cheng Y, Zhang X, Li N, Zhang L, Wang S, Tong X, Xu Y, Chen GQ, Cheng S, Fan X, Liu J.

    03/23/2019
    ARKID syndrome is caused by VPS33B mutation.

    Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.
    Gruber R, Rogerson C, Windpassinger C, Banushi B, Straatman-Iwanowska A, Hanley J, Forneris F, Strohal R, Ulz P, Crumrine D, Menon GK, Blunder S, Schmuth M, Müller T, Smith H, Mills K, Kroisel P, Janecke AR, Gissen P., Free PMC Article

    07/22/2017
    Vesicular trafficking complexes, containing VPS33B, are a novel class of modifiers of integrin function.

    Characterization of a Novel Integrin Binding Protein, VPS33B, Which Is Important for Platelet Activation and In Vivo Thrombosis and Hemostasis.
    Xiang B, Zhang G, Ye S, Zhang R, Huang C, Liu J, Tao M, Ruan C, Smyth SS, Whiteheart SW, Li Z., Free PMC Article

    04/23/2016
    Novel splice site mutations in the VPS33B gene were identified in arthrogryposis, renal dysfunction, and cholestasis syndrome in Koreans.

    Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.
    Seo SH, Hwang SM, Ko JM, Ko JS, Hyun YJ, Cho SI, Park H, Kim SY, Seong MW, Park SS.

    03/5/2016
    Abnormal protein trafficking and impairment in multivesicular bodies maturation in Megakaryocytes underlie the alpha-granule deficiency in Vps33b(fl/fl)-ER(T2) mouse and ARC patients.

    VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes.
    Bem D, Smith H, Banushi B, Burden JJ, White IJ, Hanley J, Jeremiah N, Rieux-Laucat F, Bettels R, Ariceta G, Mumford AD, Thomas SG, Watson SP, Gissen P., Free PMC Article

    10/10/2015
    Case Report: neonate with ARC syndrome and high GGT cholestasis caused by VPS33B heterozygous mutations.

    ARC syndrome with high GGT cholestasis caused by VPS33B mutations.
    Wang JS, Zhao J, Li LT., Free PMC Article

    04/18/2015
    Case Report: novel mutations in VPS33B in Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome.

    Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China.
    Li LT, Zhao J, Chen R, Wang JS., Free PMC Article

    07/19/2014
    Our data suggest that the ARC syndrome may result through impaired VIPAS39/SPE-39 and Vps33b-dependent endosomal maturation or fusion.

    Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes.
    Tornieri K, Zlatic SA, Mullin AP, Werner E, Harrison R, L'hernault SW, Faundez V., Free PMC Article

    07/12/2014
    Evidence of genotype-phenotype correlation in ARC syndrome the VPS33B c.1225+5G>C mutation predicts a mild phenotype.

    Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
    Smith H, Galmes R, Gogolina E, Straatman-Iwanowska A, Reay K, Banushi B, Bruce CK, Cullinane AR, Romero R, Chang R, Ackermann O, Baumann C, Cangul H, Cakmak Celik F, Aygun C, Coward R, Dionisi-Vici C, Sibbles B, Inward C, Kim CA, Klumperman J, Knisely AS, Watson SP, Gissen P., Free PMC Article

    04/20/2013
    VPS16B, similar to its binding partner VPS33B, is essential for megakaryocyte and platelet alpha-granule biogenesis.

    The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet α-granule biogenesis.
    Urban D, Li L, Christensen H, Pluthero FG, Chen SZ, Puhacz M, Garg PM, Lanka KK, Cummings JJ, Kramer H, Wasmuth JD, Parkinson J, Kahr WH., Free PMC Article

    03/2/2013
    SPE-39 due to tyrosine phosphorylation and ubiquitination on the function of Vps33B in the EGF-stimulated cells

    Inhibitory effect of SPE-39 due to tyrosine phosphorylation and ubiquitination on the function of Vps33B in the EGF-stimulated cells.
    Ishii A, Kamimori K, Hiyoshi M, Kido H, Ohta T, Konishi H.

    10/13/2012
    We assessed the clinical characteristics and investigated the VPS33B mutations in Korean patients with ARC (arthrogryposis, renal dysfunction, and cholestasis) syndrome.

    Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
    Jang JY, Kim KM, Kim GH, Yu E, Lee JJ, Park YS, Yoo HW.

    01/21/2010
    Genetic deletion of ptpA attenuates Mycobacterium tuberculosis growth in human macrophages and identify VPS33B, a regulator of membrane fusion, as a PtpA substrate.

    Mycobacterium tuberculosis virulence is mediated by PtpA dephosphorylation of human vacuolar protein sorting 33B.
    Bach H, Papavinasasundaram KG, Wong D, Hmama Z, Av-Gay Y.

    01/21/2010
    The present observations indicate that VPS33B deficiency results in abnormal secretion of lamellar granules, which underlies ichthyosis in ARC syndrome.

    Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B.
    Hershkovitz D, Mandel H, Ishida-Yamamoto A, Chefetz I, Hino B, Luder A, Indelman M, Bergman R, Sprecher E.

    01/21/2010
    Observational study of gene-disease association. (HuGE Navigator)

    Linkage disequilibrium mapping of a chromosome 15q25-26 major depression linkage region and sequencing of NTRK3.
    Verma R, Holmans P, Knowles JA, Grover D, Evgrafov OV, Crowe RR, Scheftner WA, Weissman MM, DePaulo JR Jr, Potash JB, Levinson DF., Free PMC Article

    04/16/2008
    A and B classes reflect the evolution of organelle/tissue-specific functions

    Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights.
    Gissen P, Johnson CA, Gentle D, Hurst LD, Doherty AJ, O'Kane CJ, Kelly DA, Maher ER.

    01/21/2010
    encodes a homolog of the class C yeast vacuolar protein sorting gene, that contains a Sec1-like domain important in the regulation of vesicle-to-target SNARE complex formation and subsequent membrane fusion

    Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
    Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, Cooper WN, McKiernan PJ, Klomp LW, Morris AA, Wraith JE, McClean P, Lynch SA, Thompson RJ, Lo B, Quarrell OW, Di Rocco M, Trembath RC, Mandel H, Wali S, Karet FE, Knisely AS, Houwen RH, Kelly DA, Maher ER.

    01/21/2010
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