Human Gene TBC1D20 (uc002wds.3) Description and Page Index
Description: Homo sapiens TBC1 domain family, member 20 (TBC1D20), mRNA. RefSeq Summary (NM_144628): This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replication. Depletion of this protein inhibits replication of the virus and HCV infection. Mutations in this gene are associated with Warburg micro syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. Transcript (Including UTRs) Position: hg19 chr20:416,124-443,187 Size: 27,064 Total Exon Count: 8 Strand: - Coding Region Position: hg19 chr20:419,230-443,049 Size: 23,820 Coding Exon Count: 8
ID:TBC20_HUMAN DESCRIPTION: RecName: Full=TBC1 domain family member 20; FUNCTION: May act as a GTPase-activating protein for Rab family protein(s). SUBUNIT: Directly interacts with the N-terminal amphipathic helix of hepatitis C virus (HCV) NS5A. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). SIMILARITY: Contains 1 Rab-GAP TBC domain.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): TBC1D20 CDC HuGE Published Literature: TBC1D20 Positive Disease Associations: Stroke Related Studies:
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96BZ9
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.