VPS33B

Summary

Gene Symbol: VPS33B
Description: VPS33B, late endosome and lysosome associated
Alias: vacuolar protein sorting-associated protein 33B, vacuolar protein sorting 33 homolog B, vacuolar protein sorting 33-like protein B
Species: human
Products:     VPS33B

Top Publications

  1. Lo B, Li L, Gissen P, Christensen H, McKiernan P, Ye C, et al. Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis. Blood. 2005;106:4159-66 pubmed
    ..Mutations affecting VPS33B, a novel Sec1/Munc18 protein, have recently been linked to arthrogryposis, renal dysfunction, and cholestasis (ARC)..
  2. Zlatic S, Tornieri K, L hernault S, Faundez V. Clathrin-dependent mechanisms modulate the subcellular distribution of class C Vps/HOPS tether subunits in polarized and nonpolarized cells. Mol Biol Cell. 2011;22:1699-715 pubmed publisher
    ..We propose that vesicular (AP-3) and nonvesicular (Hrs) clathrin mechanisms segregate class C Vps/HOPS tethers to organelles and domains of mammalian cells bearing complex architectures...
  3. Cullinane A, Straatman Iwanowska A, Zaucker A, Wakabayashi Y, Bruce C, Luo G, et al. Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. Nat Genet. 2010;42:303-12 pubmed publisher
    ..Mutations in VPS33B account for most cases of ARC...
  4. Gissen P, Johnson C, Morgan N, Stapelbroek J, Forshew T, Cooper W, et al. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet. 2004;36:400-4 pubmed
    ..1 and then identified germline mutations in the gene VPS33B in 14 kindreds with ARC...
  5. Zhu G, Salazar G, Zlatic S, Fiza B, Doucette M, Heilman C, et al. SPE-39 family proteins interact with the HOPS complex and function in lysosomal delivery. Mol Biol Cell. 2009;20:1223-40 pubmed publisher
    ..C. elegans SPE-39 interacts in vitro with both VPS33A and VPS33B, whereas RNA interference of VPS33B causes spe-39-like spermatogenesis defects...
  6. Gissen P, Johnson C, Gentle D, Hurst L, Doherty A, O Kane C, et al. Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights. Hum Mol Genet. 2005;14:1261-70 pubmed
    b>VPS33B protein is a homologue of the yeast class C vacuolar protein sorting protein Vps33p that is involved in the biogenesis and function of vacuoles...
  7. Liang Z, Liu Z, Cheng C, Wang H, Deng X, Liu J, et al. VPS33B interacts with NESG1 to modulate EGFR/PI3K/AKT/c-Myc/P53/miR-133a-3p signaling and induce 5-fluorouracil sensitivity in nasopharyngeal carcinoma. Cell Death Dis. 2019;10:305 pubmed publisher
    The vacuolar protein sorting 33B (VPS33B) was rarely reported in malignant tumors...
  8. Rosales A, Mhibik M, Gissen P, Segarra O, Redecillas S, Ariceta G. Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report. BMC Nephrol. 2018;19:144 pubmed publisher
    ..dysfunction-Cholestasis syndrome (ARC, MIM#208085) is a rare multisystem disease due to mutations in the VPS33B and VIPAR genes, both involved in maintaining apical-basolateral cell polarity...
  9. Hunter M, Hesketh G, Benedyk T, Gingras A, Graham S. Proteomic and Biochemical Comparison of the Cellular Interaction Partners of Human VPS33A and VPS33B. J Mol Biol. 2018;430:2153-2163 pubmed publisher
    ..Metazoans additionally possess VPS33B, which has considerable sequence similarity to VPS33A but does not integrate into CORVET or HOPS complexes and ..

More Information

Publications50

  1. Akbar M, Ray S, KRAMER H. The SM protein Car/Vps33A regulates SNARE-mediated trafficking to lysosomes and lysosome-related organelles. Mol Biol Cell. 2009;20:1705-14 pubmed publisher
    The SM proteins Vps33A and Vps33B are believed to act in membrane fusions in endosomal pathways, but their specific roles are controversial. In Drosophila, Vps33A is the product of the carnation (car) gene...
  2. Zhou Y, Zhang J. Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features. Ital J Pediatr. 2014;40:77 pubmed publisher
    ..ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene...
  3. Chen C, Lo R, Urban D, Pluthero F, Kahr W. ?-granule biogenesis: from disease to discovery. Platelets. 2017;28:147-154 pubmed publisher
    ..Renal dysfunction, and Cholestasis (ARC) syndrome identified the first proteins essential to ?-granule biogenesis: VPS33B and VPS16B...
  4. Holme A, Hurcombe J, Straatman Iwanowska A, Inward C, Gissen P, Coward R. Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome. Clin Kidney J. 2013;6:183-8 pubmed publisher
    ..dysfunction and cholestasis (ARC) syndrome is a multisystem autosomal-recessive disorder caused by defects in the VPS33B and VIPAR genes, involved in localization of apical membrane proteins...
  5. Rogerson C, Gissen P. VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function. Biochim Biophys Acta Mol Basis Dis. 2018;1864:1609-1621 pubmed publisher
    Mutations in VPS33B and VIPAS39 cause the severe multisystem disorder Arthrogryposis, Renal dysfunction and Cholestasis (ARC) syndrome. Amongst other symptoms, patients with ARC syndrome suffer from severe ichthyosis...
  6. Ilhan O, Ozer E, Ozdemir S, Akbay S, Memur S, Kanar B, et al. Arthrogryposis-renal tubular dysfunction-cholestasis syndrome: a cause of neonatal cholestasis. Case report. Arch Argent Pediatr. 2016;114:e9-12 pubmed publisher
    ..It is inherited autosomal recessive and caused by defects in the VPS33B and VIPAR genes...
  7. Gengyo Ando K, Kage Nakadai E, Yoshina S, Otori M, Kagawa Nagamura Y, Nakai J, et al. Distinct roles of the two VPS33 proteins in the endolysosomal system in Caenorhabditis elegans. Traffic. 2016;17:1197-1213 pubmed publisher
    ..Metazoan cells possess two Vps33 proteins, VPS33A and VPS33B, but their precise roles remain unknown...
  8. Gu H, Chen C, Hao X, Wang C, Zhang X, Li Z, et al. Sorting protein VPS33B regulates exosomal autocrine signaling to mediate hematopoiesis and leukemogenesis. J Clin Invest. 2016;126:4537-4553 pubmed publisher
    ..cells (HSCs) undergo exosomal maturation and release that is controlled by vacuolar protein sorting protein 33b (VPS33B)...
  9. Dai J, Lu Y, Wang C, Chen X, Fan X, Gu H, et al. Vps33b regulates Vwf-positive vesicular trafficking in megakaryocytes. J Pathol. 2016;240:108-19 pubmed publisher
    Mutations of vacuolar protein sorting-associated protein 33b (VPS33B) cause arthrogryposis, renal dysfunction, and cholestasis syndrome, and a lack of platelet ?-granules in the affected patients...
  10. Weyand A, Lombel R, Pipe S, Shavit J. The Role of Platelets and ε-Aminocaproic Acid in Arthrogryposis, Renal Dysfunction, and Cholestasis (ARC) Syndrome Associated Hemorrhage. Pediatr Blood Cancer. 2016;63:561-3 pubmed publisher
    ..We report a patient with ARC syndrome and compound heterozygous mutations in VPS33B (vacuolar protein sorting 33B) who presented with significant bleeding requiring numerous admissions and ..
  11. Hanley J, Dhar D, Mazzacuva F, Fiadeiro R, Burden J, Lyne A, et al. Vps33b is crucial for structural and functional hepatocyte polarity. J Hepatol. 2017;66:1001-1011 pubmed publisher
    ..One example is arthrogryposis, renal dysfunction and cholestasis syndrome, which in most patients is caused by VPS33B mutations. VPS33B is a protein involved in membrane trafficking that interacts with RAB11A at recycling endosomes...
  12. Giraud A, Ramond F, Cremillieux C, Touraine R, Patural H, Stephan J. [The complex phenotype of ARC syndrome: A new case]. Arch Pediatr. 2017;24:131-134 pubmed publisher
    ..A homozygous mutation was evidenced in the VPS33B gene. This gene codes for a protein involved in trafficking of intracellular vesicles. The mutation (c...
  13. Nurden A, Nurden P. Should any genetic defect affecting ?-granules in platelets be classified as gray platelet syndrome?. Am J Hematol. 2016;91:714-8 pubmed publisher
    ..These include GATA1, VPS33B, or VIPAS39 in the arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and now GFI1B...
  14. Smith H, Galmes R, Gogolina E, Straatman Iwanowska A, Reay K, Banushi B, et al. Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. Hum Mutat. 2012;33:1656-64 pubmed publisher
    ..is a rare autosomal recessive multisystem disorder caused by mutations in vacuolar protein sorting 33 homologue B (VPS33B) and VPS33B interacting protein, apical-basolateral polarity regulator (VIPAR)...
  15. Bach H, Papavinasasundaram K, Wong D, Hmama Z, Av Gay Y. Mycobacterium tuberculosis virulence is mediated by PtpA dephosphorylation of human vacuolar protein sorting 33B. Cell Host Microbe. 2008;3:316-22 pubmed publisher
    ..We identify VPS33B, a regulator of membrane fusion, as a PtpA substrate. VPS33B and PtpA colocalize in Mtb-infected human macrophages...
  16. Banushi B, Forneris F, Straatman Iwanowska A, Strange A, Lyne A, Rogerson C, et al. Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis. Nat Commun. 2016;7:12111 pubmed publisher
    ..recessive multisystem disorder Arthrogryposis, Renal dysfunction and Cholestasis syndrome caused by VIPAR and VPS33B deficiencies confirmed our findings...
  17. Gruber R, Rogerson C, Windpassinger C, Banushi B, Straatman Iwanowska A, Hanley J, et al. Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification. J Invest Dermatol. 2017;137:845-854 pubmed publisher
    ..Biallelic mutations were found in VPS33B, encoding VPS33B, a Sec1/Munc18 family protein that interacts with Rab11a and Rab25 proteins and is involved in ..
  18. Graham S, Wartosch L, Gray S, Scourfield E, Deane J, Luzio J, et al. Structural basis of Vps33A recruitment to the human HOPS complex by Vps16. Proc Natl Acad Sci U S A. 2013;110:13345-50 pubmed publisher
    ..The Vps33A-Vps16 complex provides a structural framework for studying the association between Sec1/Munc18 proteins and tethering complexes. ..
  19. Akbar M, Mandraju R, Tracy C, Hu W, Pasare C, KRAMER H. ARC Syndrome-Linked Vps33B Protein Is Required for Inflammatory Endosomal Maturation and Signal Termination. Immunity. 2016;45:267-79 pubmed publisher
    ..Here, we report that Drosophila and mammalian Vps33B proteins play critical roles in the maturation of phagosomes and endosomes following microbial recognition...
  20. Carim L, Sumoy L, Andreu N, Estivill X, Escarceller M. Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b. Cytogenet Cell Genet. 2000;89:92-5 pubmed
    We have identified VPS33B, the human ortholog of rat Vps33b. VPS33B encodes a transcript of 2482 nt with an ORF of 617 amino acids and a predicted protein size of 70.6 kDa...
  21. Huizing M, Didier A, Walenta J, Anikster Y, Gahl W, Kramer H. Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33. Gene. 2001;264:241-7 pubmed
    ..This initial molecular description of these four genes is an important step towards their evaluation as candidate genes that may be involved in the pathogenesis of Hermansky-Pudlak syndrome-related diseases. ..
  22. Liang C, Lee J, Inn K, Gack M, Li Q, Roberts E, et al. Beclin1-binding UVRAG targets the class C Vps complex to coordinate autophagosome maturation and endocytic trafficking. Nat Cell Biol. 2008;10:776-87 pubmed publisher
  23. van der Kant R, Jonker C, Wijdeven R, Bakker J, Janssen L, Klumperman J, et al. Characterization of the Mammalian CORVET and HOPS Complexes and Their Modular Restructuring for Endosome Specificity. J Biol Chem. 2015;290:30280-90 pubmed publisher
    ..of interactions within the mammalian CORVET and HOPS as well as an additional endosomal-targeting complex (VIPAS39-VPS33B) that does not exist in yeast...
  24. Pevsner J, Hsu S, Hyde P, Scheller R. Mammalian homologues of yeast vacuolar protein sorting (vps) genes implicated in Golgi-to-lysosome trafficking. Gene. 1996;183:7-14 pubmed
    ..characterized cDNA clones encoding three additional mammalian homologues belonging to this family: r-vps33a and r-vps33b from rat, which are 30 and 26% identical to yeast Vps33p, respectively, and h-vps45 from human which is 38% ..
  25. Wang J, Ge P, Qiang L, Tian F, Zhao D, Chai Q, et al. The mycobacterial phosphatase PtpA regulates the expression of host genes and promotes cell proliferation. Nat Commun. 2017;8:244 pubmed publisher
    ..effector protein that dephosphorylates several proteins in the host cell cytoplasm, such as p-JNK, p-p38, and p-VPS33B, leading to suppression of host innate immunity...
  26. Rogerson C, Gissen P. The CHEVI tethering complex: facilitating special deliveries. J Pathol. 2016;240:249-252 pubmed publisher
    b>VPS33B and VIPAR comprise the two known components of the recently christened class C Homologues in Endosome-Vesicle Interaction (CHEVI) complex, thought to act as a tethering complex in endosomal trafficking distinct from the HOPS and ..
  27. Wang J, Zhao J, Li L. ARC syndrome with high GGT cholestasis caused by VPS33B mutations. World J Gastroenterol. 2014;20:4830-4 pubmed publisher
    ..ARC) syndrome (OMIM 208085) is an autosomal recessive disorder that is caused by mutations in 2 interacting genes VPS33B and VIPAS39. Mutations in VPS33B gene account for most cases of ARC...
  28. Seo S, Hwang S, Ko J, Ko J, Hyun Y, Cho S, et al. Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome. Clin Genet. 2015;88:80-4 pubmed publisher
    ..renal dysfunction, and cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations in the VPS33B and VIPAS39. Here, we report novel mutations identified in four patients with ARC syndrome...
  29. Galmes R, Ten Brink C, Oorschot V, Veenendaal T, Jonker C, van der Sluijs P, et al. Vps33B is required for delivery of endocytosed cargo to lysosomes. Traffic. 2015;16:1288-305 pubmed publisher
    ..Yeast Vps33p is part of both complexes, and has two mammalian homologues: Vps33A and Vps33B. Vps33B is required for recycling of apical proteins in polarized cells and a causative gene for ARC syndrome...
  30. Tornieri K, Zlatic S, Mullin A, Werner E, Harrison R, L hernault S, et al. Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes. Hum Mol Genet. 2013;22:5215-28 pubmed publisher
    ..Drosophila (car) and the neurogenic arthrogryposis, renal dysfunction and cholestasis syndrome in humans (ARC1, VPS33B)...
  31. Jang J, Kim K, Kim G, Yu E, Lee J, Park Y, et al. Clinical characteristics and VPS33B mutations in patients with ARC syndrome. J Pediatr Gastroenterol Nutr. 2009;48:348-54 pubmed
    ..intrahepatic cholestasis without known treatment modalities and has recently been ascribed to a mutation in the VPS33B gene...
  32. Wartosch L, Günesdogan U, Graham S, Luzio J. Recruitment of VPS33A to HOPS by VPS16 Is Required for Lysosome Fusion with Endosomes and Autophagosomes. Traffic. 2015;16:727-42 pubmed publisher
    ..There was no effect of depleting either VIPAR or VPS33B, paralogs of VPS16 and VPS33A, on fusion of lysosomes with either endosomes or autophagosomes and ..
  33. Verma R, Holmans P, Knowles J, Grover D, Evgrafov O, Crowe R, et al. Linkage disequilibrium mapping of a chromosome 15q25-26 major depression linkage region and sequencing of NTRK3. Biol Psychiatry. 2008;63:1185-9 pubmed publisher
    ..LD mapping showed nominally significant association in NTRK3, FLJ12484, RHCG, DKFZp547K1113, VPS33B, SV2B, SLCO3A1, RGMA, and MCTP2 with MDD-RE. In NTRK3, five SNPs had nominally significant p values (.035-.001)...
  34. Bem D, Smith H, Banushi B, Burden J, White I, Hanley J, et al. VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes. Blood. 2015;126:133-43 pubmed publisher
    ..renal dysfunction, and cholestasis (ARC) syndrome is caused by deficiencies in the trafficking proteins VPS33B or VIPAR, and is associated with a bleeding diathesis and a marked reduction in platelet α-granules...
  35. Huang D, Liu J, Guo L, Song Y. [Clinical features and VPS33B mutations in a family affected by arthrogryposis, renal dysfunction, and cholestasis syndrome]. Zhongguo Dang Dai Er Ke Za Zhi. 2017;19:1077-1082 pubmed
    ..renal dysfunction, and cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations in the VPS33B or VIPAS39 gene...
  36. Carlton V, Pawlikowska L, Bull L. Molecular basis of intrahepatic cholestasis. Ann Med. 2004;36:606-17 pubmed
    ..Alagille syndrome patients carry mutations in JAG1, and mutations in VPS33B have been identified in patients with arthrogryposis, renal dysfunction and cholestasis syndrome (ARC)...
  37. Urban D, Li L, Christensen H, Pluthero F, Chen S, Puhacz M, et al. The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet ?-granule biogenesis. Blood. 2012;120:5032-40 pubmed publisher
    ..Our previous work showed that the BEACH protein NBEAL2 and the Sec1/Munc18 protein VPS33B are required for ?-granule biogenesis...
  38. Ishii A, Kamimori K, Hiyoshi M, Kido H, Ohta T, Konishi H. Inhibitory effect of SPE-39 due to tyrosine phosphorylation and ubiquitination on the function of Vps33B in the EGF-stimulated cells. FEBS Lett. 2012;586:2245-50 pubmed publisher
    Although SPE-39 is a binding protein to Vps33B that is one of the subunit in the mammalian HOPS complex, the elements of SPE-39 function remain unknown...
  39. Hershkovitz D, Mandel H, Ishida Yamamoto A, Chefetz I, Hino B, Luder A, et al. Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B. Arch Dermatol. 2008;144:334-40 pubmed publisher
    ..is a rare and usually fatal metabolic autosomal recessive disorder, which has recently been shown to result from mutations in VPS33B located on chromosome 15q26.1. Neurological signs and ichthyosis almost invariably accompany the disease.
  40. Li L, Zhao J, Chen R, Wang J. Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China. World J Gastroenterol. 2014;20:326-9 pubmed publisher
    ..All 23 coding exons and flanking introns of the VPS33B gene were amplified and sequenced using peripheral lymphocyte genomic DNA of the patient and her parents...
  41. Xiang B, Zhang G, Ye S, Zhang R, Huang C, Liu J, et al. Characterization of a Novel Integrin Binding Protein, VPS33B, Which Is Important for Platelet Activation and In Vivo Thrombosis and Hemostasis. Circulation. 2015;132:2334-44 pubmed publisher
    ..The molecular mechanism that regulates integrin activation is not completely understood. Here, we show that VPS33B, a member of the Sec1/Munc18 family, binds directly to the integrin β subunit...