Gene Symbol: Tbc1d20
Description: TBC1 domain family, member 20
Alias: TBC1 domain family member 20
Yanagimachi R, Wakayama T, Kishikawa H, Fimia G, Monaco L, Sassone Corsi P. Production of fertile offspring from genetically infertile male mice. Proc Natl Acad Sci U S A. 2004;101:1691-5 pubmed
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...
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. ..
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...
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...
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...