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 Reynolds Syndrome and Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome. Among its related pathways are E2F mediated regulation of DNA replication and Response to elevated platelet cytosolic Ca2+. Gene Ontology (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.