TBC1D20

TBC1D20 is a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. TBC1D20 and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replication. Depletion of TBC1D20 inhibits replication of the virus and HCV infection. Mutations in TBC1D20 are associated with Warburg micro syndrome 4.

Full Name

TBC1 Domain Family Member 20

Function

GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude.

Biological Process

Biological Process acrosome assemblyIEA:Ensembl
Biological Process COPII-coated vesicle cargo loadingIMP:UniProtKB1 Publication
Biological Process endoplasmic reticulum to Golgi vesicle-mediated transportIMP:UniProtKB1 Publication
Biological Process Golgi organizationIMP:UniProtKB1 Publication
Biological Process lens fiber cell morphogenesisIEA:Ensembl
Biological Process lipid droplet organizationIEA:Ensembl
Biological Process positive regulation by host of viral genome replicationIMP:AgBase1 Publication
Biological Process positive regulation by virus of viral protein levels in host cellIMP:AgBase1 Publication
Biological Process positive regulation of ER to Golgi vesicle-mediated transportIMP:UniProtKB1 Publication
Biological Process positive regulation of GTPase activityIMP:UniProtKB1 Publication
Biological Process seminiferous tubule developmentIEA:Ensembl
Biological Process virion assemblyIMP:UniProtKB1 Publication

Cellular Location

Membrane

Involvement in disease

Warburg micro syndrome 4 (WARBM4):
A form of Warburg micro syndrome, a rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism.