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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 Retinal Microaneurysm and Mantle Cell Lymphoma. Among its related pathways are Cellular Senescence (REACTOME) and MicroRNAs in cancer. Gene Ontology (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 (PubMed:15386022, PubMed:16359901, PubMed:26151332, PubMed:16714294, PubMed:21772249, PubMed:25355358, PubMed:27827373). The complex composed of RNF2, UB2D3 and BMI1 binds nucleosomes, and has activity only with nucleosomal histone H2A (PubMed:21772249, PubMed:25355358). In the PRC1-like complex, regulates the E3 ubiquitin-protein ligase activity of RNF2/RING2 (PubMed:15386022, PubMed:26151332, PubMed:21772249).

Gene Wiki entry for BMI1 Gene

Additional gene information 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

GeneHancer (GH) Regulatory Elements for BMI1 Gene

Promoters and enhancers for BMI1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J022319 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 661.4 -0.1 -132 3 PKNOX1 SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ZNF766 ZNF213 ZNF207 BMI1 MLLT10 COMMD3-BMI1 COMMD3
GH10J022324 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 650.7 +4.5 4502 2 HDAC1 PKNOX1 FOXA2 RB1 ARID4B MZF1 SIN3A ZNF48 ZNF335 ELK1 BMI1 CASC10 MIR1915 ENSG00000272516 COMMD3-BMI1
GH10J022326 Promoter 0.6 EPDnew 650.4 +5.8 5759 0.1 EZH2 BMI1 CASC10 MIR1915 ENSG00000272516 COMMD3-BMI1
GH10J022228 Enhancer 1.6 FANTOM5 Ensembl ENCODE 35.8 -91.5 -91516 3 ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZFP41 PIR53259 TRN-GTT2-3 MLLT10 BMI1 COMMD3 DNAJC1 EBLN1 ENSG00000279631 LOC100130992
GH10J022250 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14.5 -68.1 -68082 4.8 ZFP64 SIN3A ZNF2 ZBTB7B IRF4 YY1 GLIS2 RUNX3 ZNF202 YY2 LOC100130992 ENSG00000279631 MLLT10 BMI1 ENSG00000261671 COMMD3 MIR1915 CASC10 DNAJC1 LOC105376447
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BMI1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BMI1 gene promoter:
  • YY1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • POU3F2
  • POU3F2 (N-Oct-5a)

Genomic Locations for BMI1 Gene

Genomic Locations for BMI1 Gene
chr10:22,321,210-22,331,485
(GRCh38/hg38)
Size:
10,276 bases
Orientation:
Plus strand
chr10:22,610,139-22,620,414
(GRCh37/hg19)
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 (PubMed:12167701, PubMed:15386022, PubMed:19636380, PubMed:21282530, PubMed:26151332, PubMed:21772249, PubMed:25355358). Identified in a PRC1-like HPRC-H complex with CBX2, CBX4, CBX8, PHC1, PHC2, PHC3 RING1 and RNF2 (PubMed:12167701). Interacts with RNF2/RING2 (PubMed:16714294, PubMed:21772249, PubMed:25355358). Interacts with RING1 (By similarity). Part of a complex that contains RNF2, UB2D3 and BMI1, where RNF2 and BMI1 form a tight heterodimer, and UB2D3 interacts only with RNF2 (PubMed:21772249, PubMed:25355358). The complex composed of RNF2, UB2D3 and BMI1 binds nucleosomes, and has activity only with nucleosomal histone H2A (PubMed:21772249, PubMed:25355358). Interacts with CBX7 and CBX8 (PubMed:19636380). Interacts with SPOP (PubMed:15897469). Part of a complex consisting of BMI1, CUL3 and SPOP (PubMed:15897469). Interacts with E4F1 (PubMed:16882984). Interacts with PHC2 (PubMed:9121482, PubMed:9199346, PubMed:27827373).
    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

No data available for DME Specific Peptides for BMI1 Gene

Domains & Families for BMI1 Gene

Gene Families for BMI1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

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

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 (PubMed:15386022, PubMed:16359901, PubMed:26151332, PubMed:16714294, PubMed:21772249, PubMed:25355358, PubMed:27827373). The complex composed of RNF2, UB2D3 and BMI1 binds nucleosomes, and has activity only with nucleosomal histone H2A (PubMed:21772249, PubMed:25355358). In the PRC1-like complex, regulates the E3 ubiquitin-protein ligase activity of RNF2/RING2 (PubMed:15386022, PubMed:26151332, PubMed:21772249).
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

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 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

miRNA for BMI1 Gene

miRTarBase miRNAs that target BMI1

Clone Products

  • Addgene plasmids for BMI1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear bodies (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

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 IEA,IDA 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 by RNA polymerase II IMP 19636380
GO:0006325 chromatin organization IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007379 segment specification TAS 7715727
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

mRNA/cDNA for BMI1 Gene

Unigene Clusters for BMI1 Gene

BMI1 polycomb ring finger oncogene:
Representative Sequences:

Clone Products

  • Addgene plasmids 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, 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(2.7)
  • Lung(2.5)
  • Bone marrow(2.4)
  • Lymph node(2.4)
  • Liver(2.3)
  • Skin(2.3)
  • Heart(2.2)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with BMI1: view

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 -- 34
  • 100 (a)
OneToMany
BMI1 33
  • 99.8 (n)
cow
(Bos Taurus)
Mammalia BMI1 34
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia BMI1 34
  • 99 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 98 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Bmi1 34
  • 98 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 82 (a)
OneToMany
chicken
(Gallus gallus)
Aves BMI1 34
  • 95 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 88 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii bmi1b 34
  • 76 (a)
ManyToMany
bmi1a 34 33
  • 73.33 (n)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Psc 34 35
  • 7 (a)
ManyToMany
Su(z)2 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BMI1: view image

Paralogs for BMI1 Gene

Paralogs for BMI1 Gene

(19) SIMAP similar genes for BMI1 Gene using alignment to 5 proteins:

  • BMI1_HUMAN
  • Q5T8Z2_HUMAN
  • Q5T8Z4_HUMAN
  • Q5T8Z5_HUMAN
  • Q5T8Z6_HUMAN
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 Variation AA Info Type
rs1000104172 -- 22,331,976(+) A/C/T downstream_transcript_variant
rs1000814650 -- 22,319,566(+) T/A/C upstream_transcript_variant
rs1001065063 -- 22,326,251(+) C/T intron_variant
rs1001221720 -- 22,323,605(+) T/G intron_variant
rs1001531663 -- 22,321,631(+) A/G 5_prime_UTR_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)

Additional Variant Information for BMI1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for BMI1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
retinal microaneurysm
mantle cell lymphoma
  • lymphoma, mantle cell
erythroplakia
  • erythroplasia
brain cancer
  • adult brain tumor
night blindness, congenital stationary, type 1a
  • csnb1a
- elite association - COSMIC cancer census association via MalaCards
Search BMI1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 MJ … Otte AP (Molecular and cellular biology 1997) 3 4 22 58
  2. Characterization and chromosomal localization of the human proto-oncogene BMI-1. (PMID: 8268912) Alkema MJ … van Lohuizen M (Human molecular genetics 1993) 2 3 4 58
  3. BMI1 regulates PRC1 architecture and activity through homo- and hetero-oligomerization. (PMID: 27827373) Gray F … Cierpicki T (Nature communications 2016) 3 4 58
  4. BMI1-RING1B is an autoinhibited RING E3 ubiquitin ligase. (PMID: 26151332) Taherbhoy AM … Cochran AG (Nature communications 2015) 3 4 58
  5. Crystal structure of the PRC1 ubiquitylation module bound to the nucleosome. (PMID: 25355358) McGinty RK … Tan S (Nature 2014) 3 4 58

Products for BMI1 Gene

  • Addgene plasmids for BMI1

Sources for BMI1 Gene

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