Gene Symbol: TBC1D23
Description: TBC1 domain family member 23
Alias: NS4ATP1, PCH11, TBC1 domain family member 23, HCV non-structural protein 4A-transactivated protein 1, HCV nonstructural protein 4A-transactivated protein 1
Navarro Negredo P, Edgar J, Manna P, Antrobus R, Robinson M. The WDR11 complex facilitates the tethering of AP-1-derived vesicles. Nat Commun. 2018;9:596 pubmed publisher
..is initially recruited onto vesicles rather than the TGN, where it may in turn recruit the golgin binding partner TBC1D23. We propose that the complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles ..
Shin J, Gillingham A, Begum F, Chadwick J, Munro S. TBC1D23 is a bridging factor for endosomal vesicle capture by golgins at the trans-Golgi. Nat Cell Biol. 2017;19:1424-1432 pubmed publisher
..By applying proximity biotinylation to the golgin-captured vesicles, we identify TBC1D23, an apparently catalytically inactive member of a family of Rab GTPase-activating proteins (GAPs), as a vesicle-..
Fromme J, Munson M. Capturing endosomal vesicles at the Golgi. Nat Cell Biol. 2017;19:1384-1386 pubmed publisher
..However, accurate recognition of cargo carriers by tethering factors on target membranes is poorly understood. TBC1D23 is now identified as an adaptor that links endosome-derived vesicles with golgins at the trans-Golgi.
De Arras L, Yang I, Lackford B, Riches D, Prekeris R, Freedman J, et al
. Spatiotemporal inhibition of innate immunity signaling by the Tbc1d23 RAB-GAP. J Immunol. 2012;188:2905-13 pubmed publisher
We previously identified Tbc1d23 as a candidate novel regulator of innate immunity using comparative genomics RNA interference screens in Caenorhabditis elegans and mouse macrophages...
Marin Valencia I, Gerondopoulos A, Zaki M, Ben Omran T, Almureikhi M, Demir E, et al
. Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. Am J Hum Genet. 2017;101:441-450 pubmed publisher
..Here, we report biallelic TBC1D23 mutations in six individuals from four unrelated families manifesting a non-degenerative form of PCH...
Ivanova E, Mau Them F, Riazuddin S, Kahrizi K, Laugel V, Schaefer E, et al
. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. Am J Hum Genet. 2017;101:428-440 pubmed publisher
..Here we report three families with homozygous truncating mutations in TBC1D23 who display moderate to severe intellectual disability and microcephaly...