Aliases for SH3BP4 Gene
External Ids for SH3BP4 Gene
Previous GeneCards Identifiers for SH3BP4 Gene
This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq, Jul 2008]
GeneCards Summary for SH3BP4 Gene
SH3BP4 (SH3 Domain Binding Protein 4) is a Protein Coding gene. Diseases associated with SH3BP4 include Cataract 8, Multiple Types. Among its related pathways are PI3K / Akt Signaling. GO annotations related to this gene include identical protein binding and GDP-dissociation inhibitor activity. An important paralog of this gene is MACC1.
UniProtKB/Swiss-Prot for SH3BP4 Gene
May function in transferrin receptor internalization at the plasma membrane through a cargo-specific control of clathrin-mediated endocytosis. Alternatively, may act as a negative regulator of the amino acid-induced TOR signaling by inhibiting the formation of active Rag GTPase complexes. Preferentially binds inactive Rag GTPase complexes and prevents their interaction with the mTORC1 complex inhibiting its relocalization to lysosomes and its activation. Thereby, may indirectly regulate cell growth, proliferation and autophagy.