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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BMI1 Gene

protein-coding   GIFtS: 65
GCID: GC10P022605

BMI1 polycomb ring finger oncogene

(Previous names: polycomb group ring finger 4, B lymphoma Mo-MLV insertion...)
(Previous symbol: PCGF4)
 Explore 62 diseases affiliated with
BMI1 via our new
 Human Malady Compendium 
Biological research products
for BMI1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
BMI1 Polycomb Ring Finger Oncogene1 2     FLVI2/BMI12
PCGF41 2 3     B Lymphoma Mo-MLV Insertion Region 1 Homolog2
RNF511 2 3     Flvi-2/Bmi-11
Polycomb Group RING Finger Protein 42 3     Murine Leukemia Viral (Bmi-1) Oncogene Homolog2
RING Finger Protein 512 3     Polycomb Complex Protein BMI-12
B Lymphoma Mo-MLV Insertion Region 1 Homolog (Mouse)1     Polycomb Group Protein Bmi12
Polycomb Group Ring Finger 41     

External Ids:    HGNC: 10661   Entrez Gene: 6482   Ensembl: ENSG000001682837   OMIM: 1648315   UniProtKB: P352263   

Export aliases for BMI1 gene to outside databases

Previous GC identifers: GC10U990006 GC10P022326 GC10P022760 GC10P022614 GC10P022650


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: BMI1_HUMAN, P35226
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 Wiki entry for BMI1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_008705.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BMI1 gene promoter:
         Nkx3-1   Nkx3-1 v4   POU3F2 (N-Oct-5a)   Nkx3-1 v1   POU3F2   YY1   Nkx3-1 v2   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBMI1 promoter sequence
   Search SABiosciences Chromatin IP Primers for BMI1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BMI1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10p11.23   Ensembl cytogenetic band:  10p12.2   HGNC cytogenetic band: 10p13

BMI1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BMI1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P022605:  view genomic region     (about GC identifiers)

Start:
22,605,381 bp from pter      End:
22,620,414 bp from pter
Size:
15,034 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BMI1_HUMAN, P35226 (See protein sequence)
Recommended Name: Polycomb complex protein BMI-1  
Size: 326 amino acids; 36949 Da
Subunit: 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
Subcellular location: Nucleus. Cytoplasm
Miscellaneous: The hPRC-H complex purification reported by PubMed:12167701 probably presents a mixture of different
PRC1-like complexes
2 PDB 3D structures from and Proteopedia for BMI1:
2H0D (3D)        3RPG (3D)    
Secondary accessions: Q16030 Q5T8Z3 Q96F37

Explore the universe of human proteins at neXtProt for BMI1: NX_P35226

Post-translational modifications:

  • Monoubiquitinated (By similarity). May be polyubiquitinated; which does not lead to proteasomal degradation1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P35226

  • BMI1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005171.4  
    ENSEMBL proteins: 
     ENSP00000398759   ENSP00000365851   ENSP00000397912   ENSP00000401773   ENSP00000399220  
     ENSP00000390768  

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    Uscn Proteins for BMI1

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000151ubiquitin ligase complex IDA16714294
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IEA--
    GO:0016604nuclear body IEA--


    BMI1 for ontologies           About GeneDecksing



    BMI1 Antibody Products: 
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    ThermoFisher Antibody for BMI1

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    Uscn ELISAs and CLIAs for BMI1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    BMI1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR017907 Znf_RING_CS
     IPR001841 Znf_RING
     IPR018957 Znf_C3HC4_RING-type
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry P35226

    ProtoNet protein and cluster: P35226

    1 Blocks protein family: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: BMI1_HUMAN, P35226
    Similarity: Contains 1 RING-type zinc finger


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: BMI1_HUMAN, P35226
    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

         Genatlas biochemistry entry for BMI1:
    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

    miRNA
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    miRTarBase miRNAs that target BMI1:
    hsa-mir-15a (MIRT000280), hsa-mir-128 (MIRT004645), hsa-mir-200c (MIRT000197), hsa-mir-302b (MIRT005670), hsa-mir-16 (MIRT000266)

    OriGene 3'-UTR Clone: BMI1
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    8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate BMI1 (see all 49):
    hsa-miR-548j hsa-miR-429 hsa-miR-513a-5p hsa-miR-485-3p hsa-miR-128 hsa-miR-218 hsa-miR-508-3p hsa-miR-548a-5p
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    Inhib. RNA
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IEA--
    GO:0004842ubiquitin-protein ligase activity IEA--
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IDA16714294
    GO:0043565sequence-specific DNA binding IEA--


    BMI1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for BMI1:
     Increased G1 DNA content  Increased cell death HMECs cel 

    Animal Models:
         Mouse knock-out Bmi1tm1Brn for BMI1
         15/18 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Bmi1) (see all 18):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size  hematopoietic system  immune system 
     limbs/digits/tail  mortality/aging  nervous system  normal  respiratory system 

    BMI1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch1.00
    2Protein Stability
    Protein Stability1.00
    3Neuroscience
    Neuroscience1.00
    4Lymphocyte Signaling
    Lymphocyte Signaling1.00
    5Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for BMI1
        Selected targets of Oct-3/4
    Histone modification


    5 Cell Signaling Technology (CST) Pathways for BMI1
        Chromatin Regulation / Acetylation
    Wnt / Hedgehog / Notch
    Neuroscience
    Lymphocyte Signaling
    Protein Stability

    2 BioSystems Pathways for BMI1 
        Senescence and Autophagy
    Validated targets of C-MYC transcriptional activation



    BMI1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BMI1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/105 Interacting proteins for BMI1 (P352261, 2, 3 ENSP000003658514) via UniProtKB, MINT, STRING, and/or I2D (see all 105)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USP11P517842, 3, ENSP000002183484MINT-7999702 MINT-8001998 MINT-8001923 MINT-7998977 MINT-8001946 MINT-8010211 MINT-8000588 MINT-8001976 MINT-8010325 I2D: score=2 STRING: ENSP00000218348
    CBX8Q9HC521, 2, 3, ENSP000002693854EBI-2341576,EBI-712912 MINT-8001998 MINT-8001923 MINT-4543665 MINT-8001946 MINT-4543725 MINT-8001976 MINT-8010325 MINT-4543674 I2D: score=3 STRING: ENSP00000269385
    USP7Q930092, 3, ENSP000003435354MINT-8001998 MINT-7999691 MINT-8001923 MINT-8001946 MINT-8000588 MINT-8001976 MINT-8010220 MINT-7999056 I2D: score=2 STRING: ENSP00000343535
    RING1Q065871, 2, 3, ENSP000003637874EBI-2341576,EBI-752313 MINT-8001946 MINT-8010325 I2D: score=3 STRING: ENSP00000363787
    CBX4O00257-31, ENSP000002693974EBI-2341576,EBI-4392727 MINT-8010325 MINT-4543631 I2D: score=2 STRING: ENSP00000269397
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP19636380
    GO:0001501skeletal system development ----
    GO:0001701in utero embryonic development IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006959humoral immune response IEA--


    BMI1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BMI1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BMI1
    2 Novoseek chemical compound relationships for BMI1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 0 2 17161394 (1), 9929160 (1)
    estrogen 0 2 15454193 (1), 17298744 (1)

    Search CenterWatch for drugs/clinical trials and news about BMI1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BMI1 gene: 
    NM_005180.8  

    Unigene Cluster for BMI1:

    BMI1 polycomb ring finger oncogene
    Hs.380403  [show with all ESTs]
    Unigene Representative Sequence: NM_005180
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000417470 ENST00000376663(uc009xkg.3 uc001irh.3) ENST00000442508
    ENST00000456675 ENST00000416820 ENST00000443519 ENST00000496174 ENST00000490311


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    hsa-miR-548j hsa-miR-429 hsa-miR-513a-5p hsa-miR-485-3p hsa-miR-128 hsa-miR-218 hsa-miR-508-3p hsa-miR-548a-5p
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    Additional cDNA sequence: 

    AH004292.1 BC011652.2 BT019450.1 CR456911.1 L13689.1 

    11 DOTS entries:

    DT.450576  DT.100795561  DT.95271334  DT.100795564  DT.121280796  DT.100795567  DT.95271331  DT.100701596 
    DT.121280786  DT.121280792  DT.40105884 

    24/520 AceView cDNA sequences (see all 520):

    AI360621 CB163576 BX381264 AA974180 CF128831 AA297436 C00368 BM819196 
    BQ022251 AA297868 AI075362 BM697341 BM048894 CR596018 AY542159 AI133335 
    AI929429 BM785335 BP352910 AI916726 BE222943 NM_005180 AI362205 BQ051614 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for BMI1 (see all 10)    About this scheme

    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:                                                              -     -                                                               


    ECgene alternative splicing isoforms for BMI1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BMI1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTGTATGGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    BMI1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LungTracheal CartilageChondrocytesLung
    Neural TubeNeural TubeSpinal Neural Tube CellsNeural Ectoderm
    LungTracheal CartilageLung
    Spinal CordPresumptive Spinal CordSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    Parietal epithelial cells (PEC) (Adult Stem / Progenitor Cell)Epithelium, Kidney
    Parietal epithelial cells (PEC) (Adult Stem / Progenitor Cell)Epithelium, Kidney
    Renal embryonic cells (CD24+CD133+ REC) (Renal multipotent pr...)Kidney

    See BMI1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BMI1

    SOURCE GeneReport for Unigene cluster: Hs.380403
        SABiosciences Expression via Pathway-Focused PCR Arrays including BMI1 (see all 6): 
              Polycomb & Trithorax Complexes in human mouse rat
              Cancer PathwayFinder in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Cellular Senescence in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMI1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for BMI1 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia BMI16
    --
    88(a)
    1 ↔ 1
    6(16337346-16342111)
    zebrafish
    (Danio rerio)
    Actinopterygii bmi1b1 B lymphoma Mo-MLV insertion region 1b 72.41(n)
    78.68(a)
      394249  NM_001080751.1  NP_001074220.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Psc3 negative regulation of transcription by
    homeotic more
    44(a)   2 49E6   --
    worm
    (Caenorhabditis elegans)
    Secernentea mig-326
    Protein MIG-32, isoform a
    9(a)
    possible ortholog
    IV(12089225-12092191)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons DRIP26
    AT3G230606
    (see all 3)
    putative E3 ubiquitin protein ligase DRIPH
    (see all 3)
    12(a)
    11(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    2(13026000-13030661)
    3(8200636-8203233)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 4)
    zinc finger, C3HC4 type domain containing protein,...
    zinc finger, C3HC4 type domain containing protein,...
    (see all 4)
    14(a)
    12(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    3(33260062-33265172)
    3(30433004-30438158)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BMI1 gene
    PCGF52  PCGF22  PCGF62  PCGF12  PCGF32  
    18/21 SIMAP similar genes for BMI1 using alignment to 6 protein entries:     BMI1_HUMAN (see all proteins) (see all similar genes):
    COMMD3    PCGF2    PCGF1    PCGF3    PCGF6    TRIM35
    PCGF5    TRIM64C    TRAIP    TRIM64    TRIM64B    TRIM31
    TRIM73    RAD18    TRIM39    TRIM21    CHFR    TRIM51

    BMI1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BMI1
    PGOHUM00000241366


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/165 NCBI SNPs in BMI1 are shown (see all 165    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs606025271,2
    C,--22608171(+) CTGTTC/GTTGCT 3 -- int1 us2k12Minor allele frequency- G:0.15WA 120
    rs1443479631,2
    --22608261(+) TAAGAA/GCATGG 3 -- int1 us2k10--------
    rs11250941,2
    C,F,H,--22608284(-) TGAAAG/CCAAAG 3 -- int1 us2k16Minor allele frequency- C:0.01MN NS EA WA 720
    rs1885252791,2
    --22608317(+) ATTGGA/GTTTTG 3 -- int1 us2k10--------
    rs1487610471,2
    --22608650(+) AATCAC/TGTTTC 3 -- int1 us2k10--------
    rs1812487981,2
    --22608657(+) TTTCAA/GTGTGA 3 -- int1 us2k10--------
    rs1439104491,2
    --22608724(+) ATAGTA/GGTTTG 3 -- int1 us2k10--------
    rs1862816651,2
    --22608795(+) TCTTGC/GATCTT 3 -- int1 us2k10--------
    rs745844451,2
    C,F,--22608826(+) TTCCAT/CGTTTT 3 -- int1 us2k13Minor allele frequency- C:0.11CSA WA 122
    rs124122711,2
    C,H--22608829(+) CATGTT/GTTATC 3 -- us2k1 int1 tfbs34Minor allele frequency- G:0.00NS EA 524

    HapMap Linkage Disequilibrium report for BMI1 (22605381 - 22620414 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for BMI1
         1 CNV: 70935
    Human Gene Mutation Database (HGMD): BMI1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BMI1
    DNA2.0 Custom Variant and Variant Library Synthesis for BMI1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    BMI1 for disorders           About GeneDecksing

    OMIM gene information: 164831    OMIM disorders: --

    20/62 diseases for BMI1 (see all 62):    About MalaCards
    b-cell non-hodgkin lymphoma    non-hodgkin lymphoma    leukemia    graft versus host disease
    mycosis fungoides    myeloid leukemia    primary biliary cirrhosis    squamous cell carcinoma
    renal clear cell carcinoma    hodgkin's lymphoma    burkitt's lymphoma    b-cell lymphomas
    mantle cell lymphoma    squamous cell carcinoma of the head and neck    esophageal squamous cell carcinoma    pancreatic ductal adenocarcinoma
    synovial sarcoma    myelodysplastic syndrome    lymphosarcoma    acute lymphoblastic leukemia

    1 disease from the University of Copenhagen DISEASES database for BMI1:
    Cancer

    10/35 Novoseek disease relationships for BMI1 gene (see all 35)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lymphoma mantle-cell 61.7 3 11389032 (1), 16528373 (1)
    tumors 52 113 19659474 (4), 20377880 (3), 17666329 (3), 17545584 (3) (see all 53)
    cancer 51.1 79 16501599 (6), 17452456 (3), 20170541 (2), 17711569 (2) (see all 36)
    leukemia 48 23 19379548 (2), 20428793 (2), 17483039 (2), 16963837 (2) (see all 17)
    leukemogenesis 42.8 1 16107895 (1)
    hematologic malignancies 38.6 3 16105758 (1), 15254754 (1), 11289106 (1)
    myeloid leukemia 37.8 2 16963837 (1), 17483039 (1)
    breast cancer 36.1 56 18228133 (6), 17545584 (6), 17298744 (6), 17711569 (4) (see all 13)
    carcinoma squamous cell 32.3 11 19215825 (3), 19452584 (2), 19021148 (1), 15720799 (1) (see all 5)
    medulloblastoma 30.5 6 15029199 (3), 17452456 (2)


    Export disorders for BMI1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BMI1 gene, integrated from 9 sources (see all 329):
    (articles sorted by number of sources associating them with BMI1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization and chromosomal localization of the human proto- oncogene BMI-1. (PubMed id 8268912)1, 2, 3, 9 Alkema M.J.... van Lohuizen M. (1993)
    2. Identification and characterization of interactions between the vertebrate polycomb-group protein BMI1 and human homologs of polyhomeotic. (PubMed id 9121482)1, 2, 9 Gunster M.J.... Otte A.P. (1997)
    3. Several distinct polycomb complexes regulate and co-l ocalize on the INK4a tumor suppressor locus. (PubMed id 19636380)1, 2, 9 Maertens G.N....Peters G. (2009)
    4. Structure of a Bmi-1-Ring1B polycomb group ubiquitin ligase complex. (PubMed id 16714294)1, 2, 9 Li Z....Xu R.M. (2006)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    6. Stable X chromosome inactivation involves the PRC1 Polycomb complex and requires histone MACROH2A1 and the CULLIN3/SPOP ubiquitin E3 ligase. (PubMed id 15897469)1, 2 Hernandez-Munoz I....van Lohuizen M. (2005)
    7. Role of Bmi-1 and Ring1A in H2A ubiquitylation and Hox gene silencing. (PubMed id 16359901)1, 2 Cao R.... Zhang Y. (2005)
    8. Role of histone H2A ubiquitination in Polycomb silencing. (PubMed id 15386022)1, 2 Wang H.... Zhang Y. (2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. The core of the polycomb repressive complex is compositionally and functionally conserved in flies and humans. (PubMed id 12167701)1, 2 Levine S.S....Kingston R.E. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 648 HGNC: 1066 AceView: BMI1andCOMMD3 Ensembl:ENSG00000168283 euGenes: HUgn648
    ECgene: BMI1 H-InvDB: BMI1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BMI1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BMI1 gene:
    Search GeneIP for patents involving BMI1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

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