Free for academic non-profit institutions. Other users need a Commercial license

Aliases for BMI1 Gene

Aliases for BMI1 Gene

  • BMI1 Proto-Oncogene, Polycomb Ring Finger 2 3 5
  • Polycomb Group RING Finger Protein 4 3 4
  • PCGF4 3 4
  • RNF51 3 4
  • B Lymphoma Mo-MLV Insertion Region 1 Homolog (Mouse) 2
  • Murine Leukemia Viral (Bmi-1) Oncogene Homolog 3
  • B Lymphoma Mo-MLV Insertion Region 1 Homolog 3
  • BMI1 Polycomb Ring Finger Proto-Oncogene 3
  • BMI1 Polycomb Ring Finger Oncogene 3
  • Polycomb Complex Protein BMI-1 3
  • Polycomb Group Ring Finger 4 2
  • Polycomb Group Protein Bmi1 3
  • Ring Finger Protein 51 3
  • RING Finger Protein 51 4
  • Flvi-2/Bmi-1 3
  • FLVI2/BMI1 3

External Ids for BMI1 Gene

Previous HGNC Symbols for BMI1 Gene

  • PCGF4

Previous GeneCards Identifiers for BMI1 Gene

  • GC10U990006
  • GC10P022760
  • GC10P022614
  • GC10P022650
  • GC10P022605
  • GC10P022611

Summaries for BMI1 Gene

Entrez Gene Summary 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 Validated targets of C-MYC transcriptional activation and Cellular Senescence. 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 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. In the PRC1 complex, it is required to stimulate the E3 ubiquitin-protein ligase activity of RNF2/RING2.

Gene Wiki entry for BMI1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMI1 Gene

Genomics for BMI1 Gene

Regulatory Elements for BMI1 Gene

Enhancers for BMI1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G022228 1.7 FANTOM5 Ensembl ENCODE 27.8 -91.5 -91516 3.0 CREB3L1 AGO1 ZFP64 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 BMI1 COMMD3 DNAJC1 EBLN1 TRN-GTT2-3 LOC105376446
GH10G022250 1.6 FANTOM5 ENCODE dbSUPER 14.5 -68.1 -68082 4.8 FOXA2 ZFP64 ZNF2 ZBTB7B YY1 GLIS2 ZNF202 YY2 CAVIN1 ZHX2 BMI1 ENSG00000261671 COMMD3 HNRNPRP1 CASC10 MIR1915 DNAJC1 ENSG00000279631 LOC100130992
GH10G022433 1.6 FANTOM5 Ensembl ENCODE 11.5 +115.0 115015 5.6 HDGF PKNOX1 SIN3A ZNF2 YY1 ZNF143 FOS ZNF263 ZHX2 JUNB BMI1 COMMD3 CASC10 MIR1915 HNRNPRP1 DNAJC1 LOC100499489 GC10P022433
GH10G022245 1.5 Ensembl ENCODE dbSUPER 10.6 -74.3 -74254 2.2 FOXA2 ATF1 SIN3A GATA2 FOS SP3 ZNF518A ZNF592 ZNF579 MEF2D ENSG00000261671 COMMD3 BMI1 LOC105376446 LOC100130992 ENSG00000279631
GH10G021723 1.3 Ensembl ENCODE 10.7 -596.6 -596609 2.3 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF766 SP3 ZNF610 SMARCA4 MIR1915 CASC10 MLLT10 RNU6-1141P BMI1 GC10P021711 RN7SKP219
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BMI1 on UCSC Golden Path with GeneCards custom track

Promoters for BMI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000025449 90 2601 PKNOX1 AGO1 SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 ZNF143 ZNF207

Genomic Location for BMI1 Gene

Chromosome:
10
Start:
22,321,210 bp from pter
End:
22,331,485 bp from pter
Size:
10,276 bases
Orientation:
Plus strand

Genomic View for BMI1 Gene

Genes around BMI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BMI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMI1 Gene

Proteins for BMI1 Gene

  • Protein details for BMI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35226-BMI1_HUMAN
    Recommended name:
    Polycomb complex protein BMI-1
    Protein Accession:
    P35226
    Secondary Accessions:
    • Q16030
    • Q5T8Z3
    • Q96F37

    Protein attributes for BMI1 Gene

    Size:
    326 amino acids
    Molecular mass:
    36949 Da
    Quaternary structure:
    • Component of a PRC1-like complex. Interacts with RING1 and RING2 (By similarity). Interacts vwith CBX7 and CBX8. Interacts with SPOP. Part of a complex consisting of BMI1, CUL3 and SPOP. Interacts with E4F1.
    Miscellaneous:
    • The hPRC-H complex purification reported by PubMed:12167701 probably presents a mixture of different PRC1-like complexes.

    Three dimensional structures from OCA and Proteopedia for BMI1 Gene

neXtProt entry for BMI1 Gene

Post-translational modifications for BMI1 Gene

  • Monoubiquitinated (By similarity). May be polyubiquitinated; which does not lead to proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BMI1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BMI1 (BMI1)

Assay Products

  • Cloud-Clone Corp. Assay Kits for BMI1

No data available for DME Specific Peptides for BMI1 Gene

Domains & Families for BMI1 Gene

Protein Domains for BMI1 Gene

Suggested Antigen Peptide Sequences for BMI1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BMI1: view

No data available for UniProtKB/Swiss-Prot for BMI1 Gene

Function for BMI1 Gene

Molecular function for BMI1 Gene

GENATLAS Biochemistry:
bmi-1 protooncogene homolog,activated by Moloney murine leukemia proviral insertion in Emu-myc transgenic mouse,polycomb group (PcG) complexing with SSX1 and SSX2 and associating with chromatin
UniProtKB/Swiss-Prot Function:
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. In the PRC1 complex, it is required to stimulate the E3 ubiquitin-protein ligase activity of RNF2/RING2.

Gene Ontology (GO) - Molecular Function for BMI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15386022
GO:0008270 zinc ion binding IEA,IDA 16714294
GO:0046872 metal ion binding IEA --
GO:0071535 RING-like zinc finger domain binding IPI 16714294
GO:1990841 promoter-specific chromatin binding IDA 24623306
genes like me logo Genes that share ontologies with BMI1: view
genes like me logo Genes that share phenotypes with BMI1: view

Animal Model Products

CRISPR Products

miRNA for BMI1 Gene

miRTarBase miRNAs that target BMI1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BMI1
  • Applied Biological Materials Clones for BMI1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BMI1 Gene

Localization for BMI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BMI1 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BMI1 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for BMI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IDA 16714294
GO:0005634 nucleus IDA,IEA 9367786
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with BMI1: view

Pathways & Interactions for BMI1 Gene

genes like me logo Genes that share pathways with BMI1: view

SIGNOR curated interactions for BMI1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for BMI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 19636380
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007379 segment specification TAS 7715727
GO:0010468 regulation of gene expression IMP 17420273
genes like me logo Genes that share ontologies with BMI1: view

Drugs & Compounds for BMI1 Gene

(4) Drugs for BMI1 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
PTC-209 Pharma Bmi-1 inhibitor,cell-permeable and small-molecule 0
PTC209 HBr Pharma BMI-1 inhibitor 0

(2) ApexBio Compounds for BMI1 Gene

Compound Action Cas Number
PTC-209 Bmi-1 inhibitor,cell-permeable and small-molecule 315704-66-6
PTC209 HBr BMI-1 inhibitor 1217022-63-3
genes like me logo Genes that share compounds with BMI1: view

Drug Products

Transcripts for BMI1 Gene

Unigene Clusters for BMI1 Gene

BMI1 polycomb ring finger oncogene:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BMI1
  • Applied Biological Materials Clones for BMI1

Alternative Splicing Database (ASD) splice patterns (SP) for BMI1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c ^ 13
SP1: - - - - -
SP2: - - -
SP3: - - - - - -
SP4: - -
SP5: - -
SP6: - -
SP7: - - -
SP8: -
SP9:
SP10: - -

Relevant External Links for BMI1 Gene

GeneLoc Exon Structure for
BMI1
ECgene alternative splicing isoforms for
BMI1

Expression for BMI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BMI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BMI1 Gene

This gene is overexpressed in Plasma (28.0), Retina (9.1), and Blymphocyte (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BMI1 Gene



Protein tissue co-expression partners for BMI1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BMI1 Gene:

BMI1

SOURCE GeneReport for Unigene cluster for BMI1 Gene:

Hs.380403

Evidence on tissue expression from TISSUES for BMI1 Gene

  • Blood(4.5)
  • Muscle(4.4)
  • Nervous system(3.6)
  • Intestine(2.6)
  • Lung(2.5)
  • Bone marrow(2.4)
  • Lymph node(2.4)
  • Liver(2.3)
  • Heart(2.2)
  • Skin(2.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with BMI1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BMI1 Gene

Orthologs for BMI1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BMI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 35
  • 100 (a)
OneToMany
BMI1 34
  • 99.8 (n)
cow
(Bos Taurus)
Mammalia BMI1 35
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia BMI1 35
  • 99 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Bmi1 35
  • 98 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 98 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 82 (a)
OneToMany
chicken
(Gallus gallus)
Aves BMI1 35
  • 95 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 88 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii bmi1b 35
  • 76 (a)
ManyToMany
bmi1a 34 35
  • 73.33 (n)
fruit fly
(Drosophila melanogaster)
Insecta Psc 36 35
  • 44 (a)
Su(z)2 35
  • 7 (a)
ManyToMany
Species where no ortholog for BMI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BMI1 Gene

ENSEMBL:
Gene Tree for BMI1 (if available)
TreeFam:
Gene Tree for BMI1 (if available)

Paralogs for BMI1 Gene

Paralogs for BMI1 Gene

genes like me logo Genes that share paralogs with BMI1: view

Variants for BMI1 Gene

Sequence variations from dbSNP and Humsavar for BMI1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000104172 -- 22,331,976(+) ATGTT(A/C/T)GAAAT downstream-variant-500B
rs1000814650 -- 22,319,566(+) TGAAA(A/C/T)TGAAT intron-variant, upstream-variant-2KB
rs1001019137 -- 22,321,447(+) GAGGC(-/GGAGGA)GGAGG intron-variant, cds-indel
rs1001065063 -- 22,326,251(+) TTTTG(C/T)ATCAG intron-variant
rs1001221720 -- 22,323,605(+) ATTTC(G/T)TAGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BMI1 Gene

Variant ID Type Subtype PubMed ID
dgv1002n54 CNV loss 21841781
dgv1003n54 CNV loss 21841781
dgv136n67 CNV gain 20364138
dgv137n67 CNV gain 20364138
esv27808 CNV gain 19812545
nsv1069031 CNV deletion 25765185
nsv1143626 CNV deletion 24896259
nsv550207 CNV loss 21841781
nsv825300 CNV gain 20364138
nsv951254 CNV duplication 24416366

Variation tolerance for BMI1 Gene

Residual Variation Intolerance Score: 22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BMI1 Gene

Human Gene Mutation Database (HGMD)
BMI1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BMI1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMI1 Gene

Disorders for BMI1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for BMI1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mantle cell lymphoma
  • lymphoma, mantle cell
erythroplakia
  • erythroplasia
brain cancer
  • adult brain tumor
tongue squamous cell carcinoma
  • carcinoma, squamous cell
tongue cancer
  • malignant neoplasm of anterior 2/3 of tongue unspecified
- elite association - COSMIC cancer census association via MalaCards
Search BMI1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BMI1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BMI1
genes like me logo Genes that share disorders with BMI1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BMI1 Gene

Publications for BMI1 Gene

  1. Identification and characterization of interactions between the vertebrate polycomb-group protein BMI1 and human homologs of polyhomeotic. (PMID: 9121482) Gunster M.J. … Otte A.P. (Mol. Cell. Biol. 1997) 3 4 22 64
  2. Characterization and chromosomal localization of the human proto- oncogene BMI-1. (PMID: 8268912) Alkema M.J. … van Lohuizen M. (Hum. Mol. Genet. 1993) 2 3 4 64
  3. Interaction proteomics analysis of polycomb proteins defines distinct PRC1 Complexes in mammalian cells. (PMID: 21282530) Vandamme J. … Angrand P.O. (Mol. Cell. Proteomics 2011) 3 4 64
  4. Oncoprotein Bmi-1 renders apoptotic resistance to glioma cells through activation of the IKK-nuclear factor-kappaB Pathway. (PMID: 20035051) Li J. … Li M. (Am. J. Pathol. 2010) 3 22 64
  5. Bmi-1 gene is upregulated in early-stage hepatocellular carcinoma and correlates with ATP-binding cassette transporter B1 expression. (PMID: 20085590) Effendi K. … Sakamoto M. (Cancer Sci. 2010) 3 22 64

Products for BMI1 Gene

  • Addgene plasmids for BMI1

Sources for BMI1 Gene

Content
Loading form....