CBX1

chromobox 1

Summary

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 protein may play an important role in the epigenetic control of chromatin structure and gene expression. Several related pseudogenes are located on chromosomes 1, 3, and X. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

Known Variants7 total

rsidPosition (GRCh37)AllelesClassClinVar
rs76557647517:46,148,824A/C—uncertain significance
rs37332466717:46,148,831G/A—uncertain significance
rs254362437517:46,153,403T/A—uncertain significance
rs139031952617:46,153,427C/T—uncertain significance
rs1210366317:46,155,800T/Cintron variant—
rs53316849517:46,169,480G/A——
rs479444717:46,180,724T/A——

Gene information from NCBI Gene. Variant classifications from ClinVar.