Human Gene BMI1 (ENST00000376663.8) from GENCODE V44
  Description: Homo sapiens BMI1 proto-oncogene, polycomb ring finger (BMI1), mRNA. (from RefSeq NM_005180)
RefSeq Summary (NM_005180): 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].
Gencode Transcript: ENST00000376663.8
Gencode Gene: ENSG00000168283.14
Transcript (Including UTRs)
   Position: hg38 chr10:22,321,099-22,331,484 Size: 10,386 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg38 chr10:22,326,450-22,329,542 Size: 3,093 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:22,321,099-22,331,484)mRNA (may differ from genome)Protein (326 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BMI1_HUMAN
DESCRIPTION: RecName: Full=Polycomb complex protein BMI-1; AltName: Full=Polycomb group RING finger protein 4; AltName: Full=RING finger protein 51;
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.
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.
INTERACTION: O00257-3:CBX4; NbExp=2; IntAct=EBI-2341576, EBI-4392727; O95503:CBX6; NbExp=2; IntAct=EBI-2341576, EBI-3951758; O95931:CBX7; NbExp=5; IntAct=EBI-2341576, EBI-3923843; Q9HC52:CBX8; NbExp=6; IntAct=EBI-2341576, EBI-712912; Q06587:RING1; NbExp=5; IntAct=EBI-2341576, EBI-752313; Q99496:RNF2; NbExp=5; IntAct=EBI-2341576, EBI-722416; Q9H270:VPS11; NbExp=2; IntAct=EBI-2341576, EBI-373380;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm.
PTM: Monoubiquitinated (By similarity). May be polyubiquitinated; which does not lead to proteasomal degradation.
MISCELLANEOUS: The hPRC-H complex purification reported by PubMed:12167701 probably presents a mixture of different PRC1-like complexes.
SIMILARITY: Contains 1 RING-type zinc finger.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BMI1
Diseases sorted by gene-association score: mantle cell lymphoma (15), retinal microaneurysm (14), erythroplakia (10), brain cancer (9), night blindness, congenital stationary , 1a, x-linked (7), tongue squamous cell carcinoma (7), tongue cancer (6), juvenile nasopharyngeal angiofibroma (5), bone cancer (4), medulloblastoma (3), hematologic cancer (2), esophageal cancer (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.06 RPKM in Cervix - Endocervix
Total median expression: 115.70 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -287.90617-0.467 Picture PostScript Text
3' UTR -420.401942-0.216 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018957 - Znf_C3HC4_RING-type
IPR001841 - Znf_RING
IPR013083 - Znf_RING/FYVE/PHD
IPR017907 - Znf_RING_CS

Pfam Domains:
PF00097 - Zinc finger, C3HC4 type (RING finger)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2H0D - X-ray MuPIT 3RPG - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P35226
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD Ensembl  
Protein SequenceProtein Sequence Protein Sequence  
AlignmentAlignment Alignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0046872 metal ion binding
GO:0071535 RING-like zinc finger domain binding
GO:1990841 promoter-specific chromatin binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007379 segment specification
GO:0010468 regulation of gene expression
GO:0030097 hemopoiesis
GO:0036353 histone H2A-K119 monoubiquitination
GO:0045814 negative regulation of gene expression, epigenetic
GO:0048146 positive regulation of fibroblast proliferation
GO:0051443 positive regulation of ubiquitin-protein transferase activity
GO:0070317 negative regulation of G0 to G1 transition

Cellular Component:
GO:0000151 ubiquitin ligase complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016604 nuclear body
GO:0031519 PcG protein complex
GO:0035102 PRC1 complex


-  Descriptions from all associated GenBank mRNAs
  AK313235 - Homo sapiens cDNA, FLJ93739, Homo sapiens B lymphoma Mo-MLV insertion region (mouse) (BMI1),mRNA.
JC293937 - Sequence 1 from Patent EP2307573.
BC011652 - Homo sapiens BMI1 polycomb ring finger oncogene, mRNA (cDNA clone MGC:12685 IMAGE:4138748), complete cds.
L13689 - Human prot-oncogene (BMI-1) mRNA, complete cds.
JD462529 - Sequence 443553 from Patent EP1572962.
JD471464 - Sequence 452488 from Patent EP1572962.
JD138906 - Sequence 119930 from Patent EP1572962.
JD106452 - Sequence 87476 from Patent EP1572962.
JD462702 - Sequence 443726 from Patent EP1572962.
JD407428 - Sequence 388452 from Patent EP1572962.
JD522892 - Sequence 503916 from Patent EP1572962.
JD137942 - Sequence 118966 from Patent EP1572962.
AB463444 - Synthetic construct DNA, clone: pF1KB8278, Homo sapiens BMI1 gene for BMI1 polycomb ring finger oncogene, without stop codon, in Flexi system.
BT019450 - Homo sapiens B lymphoma Mo-MLV insertion region (mouse) mRNA, complete cds.
CR456911 - Homo sapiens full open reading frame cDNA clone RZPDo834E1018D for gene COMMD3, COMM domain containing 3; complete cds, incl. stopcodon.
KJ890771 - Synthetic construct Homo sapiens clone ccsbBroadEn_00165 BMI1 gene, encodes complete protein.
KR710321 - Synthetic construct Homo sapiens clone CCSBHm_00011477 BMI1 (BMI1) mRNA, encodes complete protein.
AH004292 - Homo sapiens flvi-2/bmi-1 (flvi-2/bmi-1) mRNA, partial cds.
JC293938 - Sequence 2 from Patent EP2307573.
JD348968 - Sequence 329992 from Patent EP1572962.
JD510666 - Sequence 491690 from Patent EP1572962.
JD499396 - Sequence 480420 from Patent EP1572962.
JD279801 - Sequence 260825 from Patent EP1572962.
JD068610 - Sequence 49634 from Patent EP1572962.
JD490842 - Sequence 471866 from Patent EP1572962.
JD565368 - Sequence 546392 from Patent EP1572962.
JD307236 - Sequence 288260 from Patent EP1572962.
JD506755 - Sequence 487779 from Patent EP1572962.
JD171243 - Sequence 152267 from Patent EP1572962.
JD082996 - Sequence 64020 from Patent EP1572962.
JD113566 - Sequence 94590 from Patent EP1572962.
JD058881 - Sequence 39905 from Patent EP1572962.
JD245379 - Sequence 226403 from Patent EP1572962.
JD563690 - Sequence 544714 from Patent EP1572962.
JD084090 - Sequence 65114 from Patent EP1572962.
JD536068 - Sequence 517092 from Patent EP1572962.
JD509702 - Sequence 490726 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_prc2Pathway - The PRC2 Complex Sets Long-term Gene Silencing Through Modification of Histone Tails

Reactome (by CSHL, EBI, and GO)

Protein P35226 (Reactome details) participates in the following event(s):

R-HSA-3229089 PRC1.4 complex binds H3K27Me3 nucleosomes on CDKN2A promoter
R-HSA-4551727 CBX4 SUMOylates CBX4 in PRC1 with SUMO1
R-HSA-3229102 p-MAPKAPK3 phosphorylates BMI1
R-HSA-8937989 RUNX1 binds PRC1 complexes
R-HSA-8943817 MECOM (EVI1) recruits polycomb repressor complexes (PRCs) to the PTEN gene promoter
R-HSA-4551655 CBX4 SUMOylates BMI1 in PRC1 with SUMO1
R-HSA-8954082 E2F6 binds the PRC1 complex
R-HSA-4570463 CBX4 (Pc2) SUMOylates CETN2 with SUMO2,3
R-HSA-4570499 CBX4 (Pc2) SUMOylates HNRNPK with SUMO2
R-HSA-2559580 Oxidative Stress Induced Senescence
R-HSA-4551638 SUMOylation of chromatin organization proteins
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
R-HSA-8943724 Regulation of PTEN gene transcription
R-HSA-2559583 Cellular Senescence
R-HSA-3108232 SUMO E3 ligases SUMOylate target proteins
R-HSA-8953750 Transcriptional Regulation by E2F6
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-6807070 PTEN Regulation
R-HSA-2262752 Cellular responses to stress
R-HSA-2990846 SUMOylation
R-HSA-3108214 SUMOylation of DNA damage response and repair proteins
R-HSA-4570464 SUMOylation of RNA binding proteins
R-HSA-212436 Generic Transcription Pathway
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-597592 Post-translational protein modification
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-392499 Metabolism of proteins
R-HSA-74160 Gene expression (Transcription)
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: BMI1_HUMAN, ENST00000376663.1, ENST00000376663.2, ENST00000376663.3, ENST00000376663.4, ENST00000376663.5, ENST00000376663.6, ENST00000376663.7, NM_005180, P35226, PCGF4, Q16030, Q5T8Z3, Q96F37, RNF51, uc001irh.1, uc001irh.2, uc001irh.3, uc001irh.4, uc001irh.5
UCSC ID: ENST00000376663.8
RefSeq Accession: NM_005180
Protein: P35226 (aka BMI1_HUMAN)
CCDS: CCDS7138.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.