TBC1D20

Summary

Gene Symbol: TBC1D20
Description: TBC1 domain family member 20
Alias: C20orf140, WARBM4, TBC1 domain family member 20
Species: human
Products:     TBC1D20

Top Publications

  1. Sklan E, Staschke K, Oakes T, Elazar M, Winters M, Aroeti B, et al. A Rab-GAP TBC domain protein binds hepatitis C virus NS5A and mediates viral replication. J Virol. 2007;81:11096-105 pubmed
    ..These results suggest that pharmacologic disruption of this NS5A-interacting partner can be contemplated as a potential new antiviral strategy against a pathogen affecting nearly 3% of the world's population. ..
  2. Sklan E, Serrano R, Einav S, Pfeffer S, Lambright D, Glenn J. TBC1D20 is a Rab1 GTPase-activating protein that mediates hepatitis C virus replication. J Biol Chem. 2007;282:36354-61 pubmed
    ..We have recently shown that an interaction between HCV nonstructural protein NS5A and a host protein, TBC1D20, is necessary for efficient HCV replication...
  3. Haas A, Yoshimura S, Stephens D, Preisinger C, Fuchs E, Barr F. Analysis of GTPase-activating proteins: Rab1 and Rab43 are key Rabs required to maintain a functional Golgi complex in human cells. J Cell Sci. 2007;120:2997-3010 pubmed
    ..Surprisingly, this screen identified only two GAPs, RN-tre and TBC1D20, disrupting both Golgi organization and protein transport...
  4. Arroyo Carrera I, de Zaldívar Tristancho M, Bermejo Sánchez E, Martínez Fernández M, López Lafuente A, Macdonald A, et al. Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome. Am J Med Genet A. 2015;167:1243-51 pubmed publisher
    ..This syndrome is caused by mutations in the RAB3GAP1/2 and RAB18 genes, part of the Rab family, and in the TBC1D20 gene, which contributes to lipid droplet formation/metabolism...
  5. Picker Minh S, Busche A, Hartmann B, Spors B, Klopocki E, Hübner C, et al. Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1. Orphanet J Rare Dis. 2014;9:113 pubmed publisher
    ..mutations of the RAB3GAP1 (RAB3 GTPase-activating protein 1), RAB3GAP2, RAB18 (RAS-associated protein RAB18), or TBC1D20 (TBC1 domain protein, member 20) gene, respectively...
  6. Park A, Liegel R, Ronchetti A, Ebert A, Geurts A, Sidjanin D. Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice. BMC Genet. 2014;15:135 pubmed publisher
    Loss-of-function mutations in TBC1D20 cause Warburg Micro syndrome 4 (WARBM4), which is an autosomal recessive syndromic disorder characterized by eye, brain, and genital abnormalities...
  7. Cho N, Lee C, Pang P, Pham E, Fram B, Nguyen K, et al. Phosphatidylinositol 4,5-bisphosphate is an HCV NS5A ligand and mediates replication of the viral genome. Gastroenterology. 2015;148:616-25 pubmed publisher
    ..to PI(4,5)P2, inducing a conformational change that stabilized the interaction between NS5A and TBC1D20, which is required for HCV replication...
  8. Sidjanin D, Park A, Ronchetti A, Martins J, Jackson W. TBC1D20 mediates autophagy as a key regulator of autophagosome maturation. Autophagy. 2016;12:1759-1775 pubmed
    In humans, loss of TBC1D20 (TBC1 domain family, member 20) protein function causes Warburg Micro syndrome 4 (WARBM4), an autosomal recessive disorder characterized by congenital eye, brain, and genital abnormalities...
  9. Pieper L, Strotbek M, Wenger T, Gamer M, Olayioye M, Hausser A. Secretory pathway optimization of CHO producer cells by co-engineering of the mitosRNA-1978 target genes CerS2 and Tbc1D20. Metab Eng. 2017;40:69-79 pubmed publisher
    ..reticulum (ER)-localized proteins, Ceramide Synthase 2 (CerS2) and the Rab1 GAP Tbc domain family member 20 (Tbc1D20), as target genes of mitosRNA-1978...

More Information

Publications18

  1. Nicolini P, Amorín R, Han Y, Peñagaricano F. Whole-genome scan reveals significant non-additive effects for sire conception rate in Holstein cattle. BMC Genet. 2018;19:14 pubmed publisher
    ..Most of these regions harbor genes, such as ADAM28, DNAJA1, TBC1D20, SPO11, PIWIL3 and TMEM119, that are directly implicated in testis development, male germ line maintenance, and ..
  2. Ishida M, Ohbayashi N, Maruta Y, Ebata Y, Fukuda M. Functional involvement of Rab1A in microtubule-dependent anterograde melanosome transport in melanocytes. J Cell Sci. 2012;125:5177-87 pubmed publisher
    ..either by siRNA-mediated knockdown or by overexpression of a cytosolic form of Rab1A-GTPase-activating protein/TBC1D20 induced perinuclear melanosome aggregation...
  3. Liegel R, Handley M, Ronchetti A, Brown S, Langemeyer L, Linford A, et al. Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. Am J Hum Genet. 2013;93:1001-14 pubmed publisher
    ..In this study, we first positionally cloned the bs locus and identified a putative causative mutation in the Tbc1d20 gene...
  4. Zenner H, Yoshimura S, Barr F, Crump C. Analysis of Rab GTPase-activating proteins indicates that Rab1a/b and Rab43 are important for herpes simplex virus 1 secondary envelopment. J Virol. 2011;85:8012-21 pubmed publisher
    ..We identified that TBC1D20 and RN-tre and their partner Rabs, Rab1a/b and Rab43, respectively, are important for virion assembly...
  5. Gavriljuk K, Gazdag E, Itzen A, Kötting C, Goody R, Gerwert K. Catalytic mechanism of a mammalian Rab·RabGAP complex in atomic detail. Proc Natl Acad Sci U S A. 2012;109:21348-53 pubmed publisher
    ..The combination of X-ray structure analysis and time-resolved FTIR spectroscopy provides detailed insight in the catalysis of human Rab GTPases. ..
  6. Nevo Yassaf I, Yaffe Y, Asher M, Ravid O, Eizenberg S, Henis Y, et al. Role for TBC1D20 and Rab1 in hepatitis C virus replication via interaction with lipid droplet-bound nonstructural protein 5A. J Virol. 2012;86:6491-502 pubmed publisher
    ..Moreover, TBC1D20 and its cognate GTPase Rab1 are recruited by NS5A to LDs...
  7. Nachmias D, Sklan E, Ehrlich M, Bacharach E. Human immunodeficiency virus type 1 envelope proteins traffic toward virion assembly sites via a TBC1D20/Rab1-regulated pathway. Retrovirology. 2012;9:7 pubmed publisher
    ..b>TBC1D20, the GTPase-activating protein (GAP) of Rab1, regulates endoplasmic reticulum (ER) to Golgi trafficking, was not ..
  8. Handley M, Carpanini S, Mali G, Sidjanin D, Aligianis I, Jackson I, et al. Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. Open Biol. 2015;5:150047 pubmed publisher
    RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20 are each mutated in Warburg Micro syndrome, a rare autosomal recessive multisystem disorder...