Aliases for ITGB3BP Gene
External Ids for ITGB3BP Gene
Previous GeneCards Identifiers for ITGB3BP Gene
This gene encodes a transcriptional coregulator that binds to and enhances the activity of members of the nuclear receptor families, thyroid hormone receptors and retinoid X receptors. This protein also acts as a corepressor of NF-kappaB-dependent signaling. This protein induces apoptosis in breast cancer cells through a caspase 2-mediated signaling pathway. This protein is also a component of the centromere-specific histone H3 variant nucleosome associated complex (CENP-NAC) and may be involved in mitotic progression by recruiting the histone H3 variant CENP-A to the centromere. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
GeneCards Summary for ITGB3BP Gene
ITGB3BP (Integrin Subunit Beta 3 Binding Protein) is a Protein Coding gene. Diseases associated with ITGB3BP include Microcephaly 16, Primary, Autosomal Recessive and Microcephaly 15, Primary, Autosomal Recessive. Among its related pathways are Mitotic Metaphase and Anaphase and p75 NTR receptor-mediated signalling. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and protein C-terminus binding.
UniProtKB/Swiss-Prot Summary for ITGB3BP Gene
Transcription coregulator that can have both coactivator and corepressor functions. Isoform 1, but not other isoforms, is involved in the coactivation of nuclear receptors for retinoid X (RXRs) and thyroid hormone (TRs) in a ligand-dependent fashion. In contrast, it does not coactivate nuclear receptors for retinoic acid, vitamin D, progesterone receptor, nor glucocorticoid. Acts as a coactivator for estrogen receptor alpha. Acts as a transcriptional corepressor via its interaction with the NFKB1 NF-kappa-B subunit, possibly by interfering with the transactivation domain of NFKB1. Induces apoptosis in breast cancer cells, but not in other cancer cells, via a caspase-2 mediated pathway that involves mitochondrial membrane permeabilization but does not require other caspases. May also act as an inhibitor of cyclin A-associated kinase. Also acts a component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex.