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

    Gene ID: 648, updated on 23-Jul-2017
    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; Vega:OTTHUMG00000017807
    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]
    Orthologs
    Location:
    10p12.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (22321210..22331485)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (22610139..22620414)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L31 pseudogene 45 Neighboring gene COMMD3-BMI1 readthrough Neighboring gene COMM domain containing 3 Neighboring gene sperm associated antigen 6 Neighboring gene uncharacterized LOC105376448

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Clone Names

    • MGC12685

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RING-like zinc finger domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    promoter-specific chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    covalent chromatin modification IEA
    Inferred from Electronic Annotation
    more info
     
    hemopoiesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    negative regulation of gene expression, epigenetic IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of fibroblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    segment specification TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    PRC1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    PcG protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    nuclear body IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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_005180.8NP_005171.4  polycomb complex protein BMI-1

      See identical proteins and their annotated locations for NP_005171.4

      Status: REVIEWED

      Source sequence(s)
      AI274830, BC011652, BE008203, DB225488
      Consensus CDS
      CCDS7138.1
      UniProtKB/Swiss-Prot
      P35226
      Related
      ENSP00000365851.3, OTTHUMP00000019290, ENST00000376663.7, OTTHUMT00000047176
      Conserved Domains (2) summary
      pfam00097
      Location:1856
      zf-C3HC4; Zinc finger, C3HC4 type (RING finger)
      pfam16207
      Location:148226
      RAWUL; RAWUL domain RING finger- and WD40-associated ubiquitin-like

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      22321210..22331485
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      22610777..22620864
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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