Aliases for BMI1 Gene
External Ids for BMI1 Gene
Previous HGNC Symbols for BMI1 Gene
Previous GeneCards Identifiers for BMI1 Gene
This gene encodes a ring finger protein that is major component of the polycomb group complex 1 (PRC1). This complex functions through chromatin remodeling as an essential epigenetic repressor of multiple regulatory genes involved in embryonic development and self-renewal in somatic stem cells. This protein also plays a central role in DNA damage repair. This gene is an oncogene and aberrant expression is associated with numerous cancers and is associated with resistance to certain chemotherapies. A pseudogene of this gene is found on chromosome X. Read-through transcription also exists between this gene and the upstream COMM domain containing 3 (COMMD3) gene. [provided by RefSeq, Sep 2015]
GeneCards Summary for BMI1 Gene
BMI1 (BMI1 Proto-Oncogene, Polycomb Ring Finger) is a Protein Coding gene. Diseases associated with BMI1 include Mantle Cell Lymphoma and Erythroplakia. Among its related pathways are Transcriptional misregulation in cancer and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and ubiquitin-protein transferase activity. An important paralog of this gene is COMMD3-BMI1.
UniProtKB/Swiss-Prot Summary for BMI1 Gene
Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:15386022, PubMed:16359901, PubMed:26151332, PubMed:16714294, PubMed:21772249, PubMed:25355358, PubMed:27827373). The complex composed of RNF2, UB2D3 and BMI1 binds nucleosomes, and has activity only with nucleosomal histone H2A (PubMed:21772249, PubMed:25355358). In the PRC1-like complex, regulates the E3 ubiquitin-protein ligase activity of RNF2/RING2 (PubMed:15386022, PubMed:26151332, PubMed:21772249).