TM4SF5
Description
The TM4SF5 (transmembrane 4 L six family member 5) is a protein-coding gene located on chromosome 17.
TM4SF5 (Transmembrane 4 L6 family member 5) is a protein encoded by the TM4SF5 gene in humans. It belongs to the transmembrane 4 superfamily (tetraspanin family), known for their four hydrophobic domains and cell surface localization. TM4SF5 mediates signal transduction events involved in cell development, activation, growth, and motility. As a cell surface glycoprotein, it shares structural and sequence similarities with transmembrane 4 superfamily member 1. It may play a role in cell proliferation, and its overexpression could be associated with uncontrolled tumor cell growth.
TM4SF5 acts as an arginine sensor on lysosomal membranes, forming a complex with MTOR and SLC38A9 in an arginine-dependent manner. This complex facilitates arginine efflux, activating mTORC1, which subsequently phosphorylates RPS6KB1 and EIF4EBP1. TM4SF5 also accelerates G1/S phase progression in the cell cycle, promoting the translocation of the CDK4-CCND1 complex into the nucleus. This process involves CDKN1B and RHOA/ROCK signaling pathways.
TM4SF5 is also known as -.
Associated Diseases
- glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- cancer
- familial generalized lentiginosis
- linear atrophoderma of Moulin
- Dowling-Degos disease 1
- familial progressive hyperpigmentation
- acroleukopathy, symmetric
- dyschromatosis symmetrica hereditaria
- alcohol sensitivity, acute
- hyperpigmentation with or without hypopigmentation, familial progressive
