KHDRBS1 Gene: Function, Expression, and Disease Associations | Biomedical Resource

KHDRBS1 (KH domain containing, RNA binding, signal transduction associated 1), commonly known as SAM68, is a multifunctional RNA-binding protein involved in signal transduction, RNA splicing, and gene regulation. It contains a KH domain that mediates RNA binding and several proline-rich regions and tyrosine phosphorylation sites. KHDRBS1 plays roles in cell cycle progression, apoptosis, and DNA damage response. It is implicated in various cancers and neurological disorders.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• mRNA Splicing - Major Pathway

• Signaling by Rho GTPases

• Androgen receptor signaling pathway

• HIV Life Cycle

The KHDRBS1 protein (SAM68) is a 443-amino acid RNA-binding protein with a central KH domain that binds to RNA and DNA. It contains multiple proline-rich motifs and tyrosine phosphorylation sites, enabling interactions with SH2 and SH3 domain-containing proteins. SAM68 participates in signal transduction cascades, alternative splicing regulation, and cell cycle control. Its subcellular localization is predominantly nuclear, but it shuttles to the cytoplasm upon phosphorylation. Post-translational modifications such as tyrosine phosphorylation by Src family kinases modulate its RNA-binding activity and cellular functions.