TBC1 domain family member 20 (TBC1D20, C20orf140)

Function

• GTPase-activating protein specific for Rab1 & Rab2 GTPase families*
• directly interacts with the N-terminal amphipathic helix of hepatitis C virus (HCV) NS5A

* can accelerate intrinsic GTP hydrolysis rate > 5 orders of magnitude

Structure

• the arginine & glutamine fingers are critical for the GTPase-activating mechanism
• contains 1 Rab-GAP TBC domain

Compartment

• membrane ; multi-pass membrane protein

Alternative splicing

named isoforms=3

Pathology

• defects in TBC1D20 are the cause of Warburg micro syndrome 4

More general terms

• TBC1 domain family member
• transmembrane 2 protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=128637
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:128637
• OMIM: https://mirror.omim.org/entry/611663
• OMIM: https://mirror.omim.org/entry/615663
• UniProt: http://www.uniprot.org/uniprot/Q96BZ9.html