SH3BP4
Description
The SH3BP4 (SH3 domain binding protein 4) is a protein-coding gene located on chromosome 2.
SH3 domain-binding protein 4 is a protein encoded by the SH3BP4 gene. It contains several motifs including three Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. SH3BP4 is involved in cargo-specific control of clathrin-mediated endocytosis, specifically regulating the internalization of a particular protein receptor.
SH3BP4 plays a role in the internalization of the transferrin receptor at the cell membrane, specifically through a clathrin-mediated endocytosis pathway. Additionally, it acts as a negative regulator of the amino acid-induced TOR signaling pathway. It inhibits the activation of Rag GTPases, thereby preventing the mTORC1 complex from relocating to lysosomes and becoming active. This ultimately contributes to the regulation of cell growth, proliferation, and autophagy.
SH3BP4 is also known as BOG25, TTP.
Associated Diseases
- allergic disease
- asthma
- Crigler-Najjar syndrome type 2
- maple syrup urine disease
- schizophrenia
- sarcosinemia
- transient familial neonatal hyperbilirubinemia
- methylmalonic acidemia due to transcobalamin receptor defect
- gluthathione peroxidase deficiency
- Rotor syndrome
- Dubin-Johnson syndrome
