BTB domain-containing protein 1 (BTBD1)

BTB domain-containing protein 1 (BTBD1) is a protein encoded by the BTBD1 gene in humans. The protein features a BTB/POZ domain, typically involved in protein-protein interactions, particularly through its N-terminus which also has a proline-rich region. The C-terminus can bind topoisomerase I (TOP1). BTBD1 is believed to function as a probable substrate-specific adapter in an E3 ubiquitin-protein ligase complex, promoting the ubiquitination and proteasomal degradation of target proteins[1][2][8]. It may be involved in regulating the expression or subnuclear distribution of TOP1 and plays a potential role in mesenchymal cell differentiation, promoting myogenic differentiation and suppressing adipogenesis[2][8]. While it has been linked to rare pediatric cancers such as congenital mesoblastic nephroma and childhood fibrosarcoma, it is not a classical therapeutic target (such as a receptor, enzyme, transporter, or channel)[2]. There are currently no known drugs targeting BTBD1 directly, and its biomarker and safety relevance are unknown.

Other names

BTBD1C15orf1NS5ATP8