TBCK
Domain
The protein kinase domain is predicted to be catalytically inactive.
Function
Component of the FERRY complex (Five-subunit Endosomal Rab5 and RNA/ribosome intermediary) (PubMed:37267905). The FERRY complex directly interacts with mRNAs and RAB5A, and functions as a RAB5A effector involved in the localization and the distribution of specific mRNAs most likely by mediating their endosomal transport. The complex recruits mRNAs and ribosomes to early endosomes through direct mRNA-interaction (PubMed:37267905). Also involved in the modulation of mTOR signaling and expression of mTOR complex components (PubMed:23977024, PubMed:27040691). Involved in the control of actin-cytoskeleton organization (PubMed:23977024).
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the protein kinase superfamily.
Cellular localization
- Cytoplasm
- Cytoplasm
- Cytoskeleton
- Spindle
- Midbody
- Early endosome
- 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.
Alternative names
FERRY1, TBCKL, HSPC302, TBCK, TBC domain-containing protein kinase-like protein, FERRY endosomal RAB5 effector complex subunit 1, Fy-1