SH3BP1

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Ideogram human chromosome 22

SH3BP1

SH3BP1 is a protein-coding gene that plays a crucial role in various cellular processes. It is also known as SH3 domain-binding protein 1. This gene is located on chromosome 4 in humans.

Function[edit | edit source]

The primary function of SH3BP1 is to regulate intracellular signaling pathways by interacting with SH3 domain-containing proteins. It acts as an adaptor protein, facilitating protein-protein interactions that are essential for cellular processes such as cell growth, proliferation, and survival.

Structure[edit | edit source]

The protein encoded by SH3BP1 contains multiple domains, including an SH3 domain-binding motif. This motif allows it to bind to SH3 domains present in other proteins, enabling the formation of signaling complexes.

Clinical Significance[edit | edit source]

Mutations in the SH3BP1 gene have been associated with certain diseases, including cancer and neurological disorders. Dysregulation of SH3BP1 expression or function can disrupt normal cellular processes, leading to pathological conditions.

Interactions[edit | edit source]

SH3BP1 interacts with a variety of proteins involved in different signaling pathways. Some of its known interaction partners include protein kinase C and phosphoinositide 3-kinase.

References[edit | edit source]

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Contributors: Prab R. Tumpati, MD