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

Gene ID: 648, updated on 9-May-2021

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
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
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Genomic context

See BMI1 in Genome Data Viewer
Location:
10p12.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (22321099..22331484)
105.20201022 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 COMMD3-BMI1 readthrough Neighboring gene COMM domain containing 3 Neighboring gene sperm associated antigen 6 Neighboring gene uncharacterized LOC105376448

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

Homology

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
PubMed 
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 DNA methylation IEA
Inferred from Electronic Annotation
more info
 
involved_in brain development IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to dexamethasone stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to interleukin-1 IEA
Inferred from Electronic Annotation
more info
 
involved_in chromatin silencing IBA
Inferred from Biological aspect of Ancestor
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 histone H2A-K119 monoubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in histone H2A-K119 monoubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in histone acetylation IEA
Inferred from Electronic Annotation
more info
 
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 G0 to G1 transition TAS
Traceable Author Statement
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
PubMed 
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
PubMed 
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
 
located_in 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)

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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_005180.9NP_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
    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: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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