Human Gene BMI1 (ENST00000376663.8_4) from GENCODE V47lift37

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Description: BMI1 proto-oncogene, polycomb ring finger (from RefSeq NM_005180.9)
Gencode Transcript: ENST00000376663.8_4
Gencode Gene: ENSG00000168283.14_12
Transcript (Including UTRs)
Position: hg19 chr10:22,610,028-22,620,413 Size: 10,386 Total Exon Count: 10 Strand: +
Coding Region
Position: hg19 chr10:22,615,379-22,618,471 Size: 3,093 Coding Exon Count: 9

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species
GO Annotations	mRNA Descriptions	Pathways	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr10:22,610,028-22,620,413)			mRNA (may differ from genome)		Protein (326 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	Reactome
UniProtKB	Wikipedia	BioGrid 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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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 D010634 Phenobarbital D014212 Tretinoin C017947 sodium arsenite C013813 4-anisidine D000082 Acetaminophen D001564 Benzo(a)pyrene D019256 Cadmium Chloride D002251 Carbon Tetrachloride D002945 Cisplatin D002994 Clofibrate more ... click here to view the complete list

Common Gene Haplotype Alleles


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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


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-287.90	617	-0.467	Picture	PostScript	Text
3' UTR	-420.40	1942	-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)
PF13639 - Ring finger domain
PF13920 - Zinc finger, C3HC4 type (RING finger)
PF13923 - Zinc finger, C3HC4 type (RING finger)
PF16207 - RAWUL domain RING finger- and WD40-associated ubiquitin-like

SCOP Domains:
54236 - Ubiquitin-like
57850 - RING/U-box
57889 - Cysteine-rich domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2H0D - X-ray MuPIT

3RPG - X-ray MuPIT

ModBase Predicted Comparative 3D Structure on P35226


Front	Top	Side

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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.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details		Gene Details
Gene Sorter	Gene Sorter		Gene Sorter
	RGD

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. JD340223 - Sequence 321247 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. JD245379 - Sequence 226403 from Patent EP1572962. JD563690 - Sequence 544714 from Patent EP1572962. JD084090 - Sequence 65114 from Patent EP1572962. JD536068 - Sequence 517092 from Patent EP1572962. JD067266 - Sequence 48290 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, uc318nch.1, uc318nch.2 UCSC ID: ENST00000376663.8_4 RefSeq Accession: NM_005180.9 Protein: P35226 (aka BMI1_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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