Aliases for CBX5 Gene
External Ids for CBX5 Gene
Previous GeneCards Identifiers for CBX5 Gene
This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family. The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The encoded product is involved in the formation of functional kinetochore through interaction with essential kinetochore proteins. The gene has a pseudogene located on chromosome 3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
GeneCards Summary for CBX5 Gene
CBX5 (Chromobox 5) is a Protein Coding gene. Diseases associated with CBX5 include immunodeficiency, centromere instability and facial anomalies syndrome. Among its related pathways are Platelet activation, signaling and aggregation and Factors involved in megakaryocyte development and platelet production. GO annotations related to this gene include protein homodimerization activity and histone deacetylase binding. An important paralog of this gene is CBX1.
UniProtKB/Swiss-Prot for CBX5 Gene
Component of heterochromatin that recognizes and binds histone H3 tails methylated at Lys-9 (H3K9me), leading to epigenetic repression. In contrast, it is excluded from chromatin when Tyr-41 of histone H3 is phosphorylated (H3Y41ph). Can interact with lamin-B receptor (LBR). This interaction can contribute to the association of the heterochromatin with the inner nuclear membrane. Involved in the formation of functional kinetochore through interaction with MIS12 complex proteins.