Aliases for TBCK Gene
External Ids for TBCK Gene
Previous GeneCards Identifiers for TBCK Gene
This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
GeneCards Summary for TBCK Gene
TBCK (TBC1 Domain Containing Kinase) is a Protein Coding gene. Diseases associated with TBCK include Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 and Hypotonia, Infantile, With Psychomotor Retardation. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is TBC1D22A.
UniProtKB/Swiss-Prot for TBCK Gene
Involved in the modulation of mTOR signaling and expression of mTOR complex components (PubMed:27040691, PubMed:23977024). Involved in the regulation of cell proliferation and growth (PubMed:23977024, PubMed:24576458). Involved in the control of actin-cytoskeleton organization (PubMed:23977024).