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

Gene ID: 648, updated on 11-Apr-2024

Summary

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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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. [Helicobacter pylori promotes gastric cancer metastasis via up-regulating the expression of Bmi-1]. Tang X, et al. Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi, 2023 Jun. PMID 37340921
  2. The role of BMI1 in endometrial cancer and other cancers. Zhao Y, et al. Gene, 2023 Mar 10. PMID 36563713
  3. BMI-1 promotes breast cancer proliferation and metastasis through different mechanisms in different subtypes. Liu JY, et al. Cancer Sci, 2023 Feb. PMID 36285479, Free PMC Article
  4. Polycomb Protein BMI-1 as a Potential Therapeutic Target in Mucinous Ovarian Cancer. Abobaker S, et al. Anticancer Res, 2022 Apr. PMID 35346992
  5. BMI1 is associated with CS8F amyloid-β and rates of cognitive decline in Alzheimer's disease. Kim JP, et al. Alzheimers Res Ther, 2021 Oct 5. PMID 34610832, Free PMC Article

See all (592) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. lncRNA CCAT2 Protects Against Cardiomyocyte Injury After Myocardial Ischemia/Reperfusion by Regulating BMI1 Expression.
    Title: lncRNA CCAT2 Protects Against Cardiomyocyte Injury After Myocardial Ischemia/Reperfusion by Regulating BMI1 Expression.
  2. PP2A inhibitor SET promotes mTORC1 and Bmi1 signaling through Akt activation and maintains the colony-formation ability of cancer cells.
    Title: PP2A inhibitor SET promotes mTORC1 and Bmi1 signaling through Akt activation and maintains the colony-formation ability of cancer cells.
  3. Cancer-associated fibroblast-derived extracellular vesicles promote lymph node metastases in oral cavity squamous cell carcinoma by encapsulating ITGB1 and BMI1.
    Title: Cancer-associated fibroblast-derived extracellular vesicles promote lymph node metastases in oral cavity squamous cell carcinoma by encapsulating ITGB1 and BMI1.
  4. Peptidase inhibitor 16 promotes inflammatory arthritis by suppressing Foxp3 expression via regulating K48-linked ubiquitin degradation Bmi-1 in regulatory T cells.
    Title: Peptidase inhibitor 16 promotes inflammatory arthritis by suppressing Foxp3 expression via regulating K48-linked ubiquitin degradation Bmi-1 in regulatory T cells.
  5. Acute lymphoblastic leukemia in children and SALL4 and BMI-1 gene expression.
    Title: Acute lymphoblastic leukemia in children and SALL4 and BMI-1 gene expression.
  6. [Helicobacter pylori promotes gastric cancer metastasis via up-regulating the expression of Bmi-1].
    Title: [Helicobacter pylori promotes gastric cancer metastasis via up-regulating the expression of Bmi-1].
  7. Therapeutic inhibition of Bmi-1 ablates chemoresistant cancer stem cells in adenoid cystic carcinoma.
    Title: Therapeutic inhibition of Bmi-1 ablates chemoresistant cancer stem cells in adenoid cystic carcinoma.
  8. BMI-1 promotes breast cancer proliferation and metastasis through different mechanisms in different subtypes.
    Title: BMI-1 promotes breast cancer proliferation and metastasis through different mechanisms in different subtypes.
  9. The role of BMI1 in endometrial cancer and other cancers.
    Title: The role of BMI1 in endometrial cancer and other cancers.
  10. LncRNA CCAT1 facilitates the proliferation, invasion and migration of human laryngeal squamous cell carcinoma cells via the miR-218-5p/BMI1.
    Title: LncRNA CCAT1 facilitates the proliferation, invasion and migration of human laryngeal squamous cell carcinoma cells via the miR-218-5p/BMI1.
Submit: New GeneRIF Correction See all GeneRIFs (488)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
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

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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_001428309.1 → NP_001415238.1  polycomb complex protein BMI-1

    Status: REVIEWED

    Source sequence(s)
    AL158211
    UniProtKB/Swiss-Prot
    P35226, Q16030, Q5T8Z3, Q96F37

  2. NM_001428310.1 → NP_001415239.1  polycomb complex protein BMI-1

    Status: REVIEWED

    Source sequence(s)
    AL158211
    UniProtKB/Swiss-Prot
    P35226, Q16030, Q5T8Z3, Q96F37

  3. NM_001428311.1 → NP_001415240.1  polycomb complex protein BMI-1

    Status: REVIEWED

    Source sequence(s)
    AL158211
    UniProtKB/Swiss-Prot
    P35226, Q16030, Q5T8Z3, Q96F37

  4. NM_001428312.1 → NP_001415241.1  polycomb complex protein BMI-1

    Status: REVIEWED

    Source sequence(s)
    AL158211
    UniProtKB/Swiss-Prot
    P35226, Q16030, Q5T8Z3, Q96F37

  5. NM_005180.9 → NP_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:12 → 65
    RING-HC_PCGF4; RING finger found in polycomb group RING finger protein 4 (PCGF4) and similar proteins
    cd17165
    Location:130 → 226
    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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P35226.2 GenPept UniProtKB/Swiss-Prot:P35226

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