TBCK

TBCK is a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. TBCK is thought to function in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. TBCK may also be involved in the transcriptional regulation of the components of the mTOR complex.

Full Name

TBC1 Domain Containing Kinase

Function

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).

Biological Process

Biological Process actin cytoskeleton organizationIMP:UniProtKB1 Publication
Biological Process activation of GTPase activityIBA:GO_Central1 Publication
Biological Process cell population proliferationIMP:UniProtKB1 Publication
Biological Process regulation of TOR signalingIMP:UniProtKB1 Publication

Cellular Location

Cytoplasm
Cytoplasm, cytoskeleton, spindle
Midbody
Mainly localized in the cytoplasm during interphase. During metaphase, TBCK accumulates at the mitotic spindle. At the end of mitosis, it is detected at the midbody.

Involvement in disease

Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (IHPRF3):
An autosomal recessive neurodevelopmental disorder characterized by profound developmental disability, intellectual disability and severe hypotonia. Many patients have seizures, and show brain atrophy, dysgenesis of the corpus callosum and white-matter changes on neuroimaging. Non-specific facial dysmorphism is noted in some individuals.