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 Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Signaling pathways regulating pluripotency of stem cells. 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).