Aliases for SH3KBP1 Gene
External Ids for SH3KBP1 Gene
Previous GeneCards Identifiers for SH3KBP1 Gene
This gene encodes an adapter protein that contains one or more N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
GeneCards Summary for SH3KBP1 Gene
SH3KBP1 (SH3 Domain Containing Kinase Binding Protein 1) is a Protein Coding gene. Diseases associated with SH3KBP1 include Immunodeficiency 61 and Isolated Agammaglobulinemia. Among its related pathways are Development HGF signaling pathway and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include SH3 domain binding. An important paralog of this gene is CD2AP.
UniProtKB/Swiss-Prot Summary for SH3KBP1 Gene
Adapter protein involved in regulating diverse signal transduction pathways. Involved in the regulation of endocytosis and lysosomal degradation of ligand-induced receptor tyrosine kinases, including EGFR and MET/hepatocyte growth factor receptor, through an association with CBL and endophilins. The association with CBL, and thus the receptor internalization, may be inhibited by an interaction with PDCD6IP and/or SPRY2. Involved in regulation of ligand-dependent endocytosis of the IgE receptor. Attenuates phosphatidylinositol 3-kinase activity by interaction with its regulatory subunit (By similarity). May be involved in regulation of cell adhesion; promotes the interaction between TTK2B and PDCD6IP. May be involved in the regulation of cellular stress response via the MAPK pathways through its interaction with MAP3K4. Is involved in modulation of tumor necrosis factor mediated apoptosis. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. Has an essential role in the stimulation of B cell activation (PubMed:29636373).