Aliases for TBC1D1 Gene
External Ids for TBC1D1 Gene
Previous GeneCards Identifiers for TBC1D1 Gene
TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008]
GeneCards Summary for TBC1D1 Gene
TBC1D1 (TBC1 Domain Family Member 1) is a Protein Coding gene. Diseases associated with TBC1D1 include Warburg Micro Syndrome 1. Among its related pathways are Vesicle-mediated transport and Translocation of GLUT4 to the plasma membrane. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D4.
UniProtKB/Swiss-Prot for TBC1D1 Gene
May act as a GTPase-activating protein for Rab family protein(s). May play a role in the cell cycle and differentiation of various tissues. Involved in the trafficking and translocation of GLUT4-containing vesicles and insulin-stimulated glucose uptake into cells (By similarity).