SH3KBP1


Description

The SH3KBP1 (SH3 domain containing kinase binding protein 1) is a protein-coding gene located on chromosome X.

SH3 domain-containing kinase-binding protein 1 (synonyms - CIN85, in rodents - Ruk) is an adaptor protein that in humans is encoded by the SH3KBP1 gene.

CBL (MIM 165360) constitutively interacts with SH3 domain-containing proteins and, upon tyrosine phosphorylation, with SH2 domain-containing proteins. The SH3KBP1 gene encodes an 85-kD CBL-interacting protein that enhances tumor necrosis factor (MIM 191160)-mediated apoptotic cell death (Narita et al., 2001).[supplied by OMIM]

SH3KBP1 has been shown to interact with B-cell linker, Grb2, SH3GLB2, SH3GL3, SH3GL2, BCAR1, Epidermal growth factor receptor, CBLB, Cbl gene, SOS1, CRK and PAK2.

SH3KBP1 is a crucial adaptor protein involved in regulating a wide array of signal transduction pathways. It plays a key role in the endocytosis and subsequent lysosomal degradation of ligand-induced receptor tyrosine kinases, including EGFR and MET/hepatocyte growth factor receptor. This process is mediated through its association with CBL and endophilins. The interaction with CBL, and consequently receptor internalization, can be inhibited by an interaction with PDCD6IP and/or SPRY2. Additionally, SH3KBP1 is involved in regulating ligand-dependent endocytosis of the IgE receptor. It also attenuates phosphatidylinositol 3-kinase activity by interacting with its regulatory subunit. SH3KBP1 may contribute to the regulation of cell adhesion by promoting the interaction between TTK2B and PDCD6IP. It might also participate in regulating cellular stress response through the MAPK pathways via its interaction with MAP3K4. Furthermore, SH3KBP1 modulates tumor necrosis factor-mediated apoptosis and plays a role in regulating cell morphology and cytoskeletal organization, being essential for controlling cell shape and migration. Notably, SH3KBP1 plays a critical role in stimulating B cell activation.

SH3KBP1 is also known as AGMX2, CD2BP3, CIN85, GIG10, HSB-1, HSB1, IMD61, MIG18.

Associated Diseases



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