Aliases for BTBD1 Gene
External Ids for BTBD1 Gene
Previous GeneCards Identifiers for BTBD1 Gene
The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
GeneCards Summary for BTBD1 Gene
BTBD1 (BTB Domain Containing 1) is a Protein Coding gene. Diseases associated with BTBD1 include Autosomal Recessive Congenital Cerebellar Ataxia and Congenital Mesoblastic Nephroma. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is BTBD2.
UniProtKB/Swiss-Prot Summary for BTBD1 Gene
Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14528312). Seems to regulate expression levels and/or subnuclear distribution of TOP1, via an unknown mechanism (By similarity). May play a role in mesenchymal differentiation where it promotes myogenic differentiation and suppresses adipogenesis (By similarity).