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    BMI1 BMI1 proto-oncogene, polycomb ring finger [ Homo sapiens (human) ]

    Gene ID: 648, updated on 17-Jun-2024

    Summary

    Official Symbol
    BMI1provided by HGNC
    Official Full Name
    BMI1 proto-oncogene, polycomb ring fingerprovided by HGNC
    Primary source
    HGNC:HGNC:1066
    See related
    Ensembl:ENSG00000168283 MIM:164831; AllianceGenome:HGNC:1066
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PCGF4; RNF51; FLVI2/BMI1; flvi-2/bmi-1
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 21.4), endometrium (RPKM 20.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See BMI1 in Genome Data Viewer
    Location:
    10p12.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (22321099..22331484)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (22340133..22350518)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (22610028..22620413)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L31 pseudogene 45 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:22568695-22569196 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:22569197-22569696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3129 Neighboring gene COMMD3-BMI1 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2205 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2206 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2207 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2208 Neighboring gene COMM domain containing 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:22629212-22629998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:22634454-22635270 Neighboring gene sperm associated antigen 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3131 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:22697232-22697772 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:22697773-22698311 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2210 Neighboring gene uncharacterized LOC105376449 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:22726272-22726772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:22726773-22727273 Neighboring gene long intergenic non-protein coding RNA 3027

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC12685

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RING-like zinc finger domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables promoter-specific chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables promoter-specific chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin-protein transferase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in brain development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hemopoiesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in humoral immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of gene expression, epigenetic IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of B cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of fibroblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of immature T cell proliferation in thymus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of adaxial/abaxial pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in rostrocaudal neural tube patterning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in segment specification TAS
    Traceable Author Statement
    more info
     
    involved_in somatic stem cell division IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of PRC1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of PRC1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of PcG protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    part_of heterochromatin IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    polycomb complex protein BMI-1
    Names
    B lymphoma Mo-MLV insertion region 1 homolog
    BMI1 polycomb ring finger oncogene
    BMI1 polycomb ring finger proto-oncogene
    murine leukemia viral (bmi-1) oncogene homolog
    polycomb group RING finger protein 4
    polycomb group protein Bmi1
    ring finger protein 51

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001428309.1NP_001415238.1  polycomb complex protein BMI-1

      Status: REVIEWED

      Source sequence(s)
      AL158211
      UniProtKB/Swiss-Prot
      P35226, Q16030, Q5T8Z3, Q96F37
      UniProtKB/TrEMBL
      Q5U0M5, Q6IB93
    2. NM_001428310.1NP_001415239.1  polycomb complex protein BMI-1

      Status: REVIEWED

      Source sequence(s)
      AL158211
      UniProtKB/Swiss-Prot
      P35226, Q16030, Q5T8Z3, Q96F37
      UniProtKB/TrEMBL
      Q5U0M5, Q6IB93
    3. NM_001428311.1NP_001415240.1  polycomb complex protein BMI-1

      Status: REVIEWED

      Source sequence(s)
      AL158211
      UniProtKB/Swiss-Prot
      P35226, Q16030, Q5T8Z3, Q96F37
      UniProtKB/TrEMBL
      Q5U0M5, Q6IB93
    4. NM_001428312.1NP_001415241.1  polycomb complex protein BMI-1

      Status: REVIEWED

      Source sequence(s)
      AL158211
      UniProtKB/Swiss-Prot
      P35226, Q16030, Q5T8Z3, Q96F37
      UniProtKB/TrEMBL
      Q5U0M5, Q6IB93
    5. NM_005180.9NP_005171.4  polycomb complex protein BMI-1

      See identical proteins and their annotated locations for NP_005171.4

      Status: REVIEWED

      Source sequence(s)
      AI274830, AL158211, BC011652, BE008203, DB225488
      Consensus CDS
      CCDS7138.1
      UniProtKB/Swiss-Prot
      P35226, Q16030, Q5T8Z3, Q96F37
      UniProtKB/TrEMBL
      Q5U0M5, Q6IB93
      Related
      ENSP00000365851.3, ENST00000376663.8
      Conserved Domains (2) summary
      cd16736
      Location:1265
      RING-HC_PCGF4; RING finger found in polycomb group RING finger protein 4 (PCGF4) and similar proteins
      cd17165
      Location:130226
      RAWUL_PCGF4; RING finger- and WD40-associated ubiquitin-like (RAWUL) domain found in polycomb group RING finger protein 4 (PCGF4)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      22321099..22331484
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      22340133..22350518
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)