BMI1 BMI1 proto-oncogene, polycomb ring finger [Homo sapiens (human)] - Gene

Summary

Official Symbol: BMI1provided by HGNC
Official Full Name: BMI1 proto-oncogene, polycomb ring fingerprovided by HGNC
Primary source: HGNC:HGNC:1066
See related: Ensembl:ENSG00000168283 MIM:164831; AllianceGenome:HGNC:1066
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PCGF4; RNF51; FLVI2/BMI1; flvi-2/bmi-1
Summary: 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]
Expression: Ubiquitous expression in testis (RPKM 21.4), endometrium (RPKM 20.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10p12.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (22321099..22331706)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (22340133..22350740)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (22610028..22620635)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BMI-1 in Breast Cancer - Biological Role and Clinical Implications.
Title: BMI-1 in Breast Cancer - Biological Role and Clinical Implications.
Targeting Bmi1 for Enhancing Anoikis Sensitivity and Inhibiting Metastasis in Colorectal Cancer.
Title: Targeting Bmi1 for Enhancing Anoikis Sensitivity and Inhibiting Metastasis in Colorectal Cancer.
Bmi-1 promotes the proliferation, migration and invasion, and inhibits cell apoptosis of human retinoblastoma cells via RKIP.
Title: Bmi-1 promotes the proliferation, migration and invasion, and inhibits cell apoptosis of human retinoblastoma cells via RKIP.
Bmi1 facilitates the progression of cholangiocarcinoma by inhibiting Foxn2 expression dependent on a histone H2A ubiquitination manner.
Title: Bmi1 facilitates the progression of cholangiocarcinoma by inhibiting Foxn2 expression dependent on a histone H2A ubiquitination manner.
The transcription factor BMI1 increases hypoxic signaling in oral cavity epithelia.
Title: The transcription factor BMI1 increases hypoxic signaling in oral cavity epithelia.
lncRNA CCAT2 Protects Against Cardiomyocyte Injury After Myocardial Ischemia/Reperfusion by Regulating BMI1 Expression.
Title: lncRNA CCAT2 Protects Against Cardiomyocyte Injury After Myocardial Ischemia/Reperfusion by Regulating BMI1 Expression.
PP2A inhibitor SET promotes mTORC1 and Bmi1 signaling through Akt activation and maintains the colony-formation ability of cancer cells.
Title: PP2A inhibitor SET promotes mTORC1 and Bmi1 signaling through Akt activation and maintains the colony-formation ability of cancer cells.
Cancer-associated fibroblast-derived extracellular vesicles promote lymph node metastases in oral cavity squamous cell carcinoma by encapsulating ITGB1 and BMI1.
Title: Cancer-associated fibroblast-derived extracellular vesicles promote lymph node metastases in oral cavity squamous cell carcinoma by encapsulating ITGB1 and BMI1.
Peptidase inhibitor 16 promotes inflammatory arthritis by suppressing Foxp3 expression via regulating K48-linked ubiquitin degradation Bmi-1 in regulatory T cells.
Title: Peptidase inhibitor 16 promotes inflammatory arthritis by suppressing Foxp3 expression via regulating K48-linked ubiquitin degradation Bmi-1 in regulatory T cells.
Acute lymphoblastic leukemia in children and SALL4 and BMI-1 gene expression.
Title: Acute lymphoblastic leukemia in children and SALL4 and BMI-1 gene expression.

Submit: New GeneRIF Correction See all GeneRIFs (493)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S238E (e-PCR)
- UniSTS:473089

D10S1289E (e-PCR)
- UniSTS:151323

MARC_15438-15451:1010160821:5 (e-PCR)
- UniSTS:267835

MARC_15439-15451:1010170069:5 (e-PCR)
- UniSTS:267836

WI-11394 (e-PCR)
- UniSTS:67154

RH64946 (e-PCR)
- UniSTS:3159

SGC34623 (e-PCR)
- UniSTS:65121

D10S2352 (e-PCR)
- UniSTS:1230

Readthrough COMMD3-BMI1

Readthrough gene: COMMD3-BMI1, Included gene: COMMD3

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RING-like zinc finger domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables promoter-specific chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables promoter-specific chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-protein transferase activator activity	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA methylation-dependent heterochromatin formation	IEA Inferred from Electronic Annotation more info
involved_in apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in brain development	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic skeletal system morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in hemopoiesis	IEP Inferred from Expression Pattern more info	PubMed
involved_in humoral immune response	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of gene expression, epigenetic	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of B cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of fibroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of immature T cell proliferation in thymus	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of adaxial/abaxial pattern formation	IEA Inferred from Electronic Annotation more info
involved_in regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in rostrocaudal neural tube patterning	IEA Inferred from Electronic Annotation more info
involved_in segment specification	TAS Traceable Author Statement more info
involved_in somatic stem cell division	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of PRC1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of PRC1 complex	IDA Inferred from Direct Assay more info	PubMed
part_of PcG protein complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in heterochromatin	IEA Inferred from Electronic Annotation more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: polycomb complex protein BMI-1

Names: B lymphoma Mo-MLV insertion region 1 homolog; BMI1 polycomb ring finger oncogene; BMI1 polycomb ring finger proto-oncogene; murine leukemia viral (bmi-1) oncogene homolog; polycomb group RING finger protein 4; polycomb group protein Bmi1; ring finger protein 51

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001428309.1 → NP_001415238.1 polycomb complex protein BMI-1

Status: REVIEWED

Source sequence(s)

AL158211

UniProtKB/Swiss-Prot

P35226, Q16030, Q5T8Z3, Q96F37
NM_001428310.1 → NP_001415239.1 polycomb complex protein BMI-1

Status: REVIEWED

Source sequence(s)

AL158211

UniProtKB/Swiss-Prot

P35226, Q16030, Q5T8Z3, Q96F37
NM_001428311.1 → NP_001415240.1 polycomb complex protein BMI-1

Status: REVIEWED

Source sequence(s)

AL158211

UniProtKB/Swiss-Prot

P35226, Q16030, Q5T8Z3, Q96F37
NM_001428312.1 → NP_001415241.1 polycomb complex protein BMI-1

Status: REVIEWED

Source sequence(s)

AL158211

UniProtKB/Swiss-Prot

P35226, Q16030, Q5T8Z3, Q96F37
NM_005180.9 → NP_005171.4 polycomb complex protein BMI-1

See identical proteins and their annotated locations for NP_005171.4

Status: REVIEWED

Source sequence(s)

AI274830, AL158211, BC011652, BE008203, DB225488

Consensus CDS

CCDS7138.1

UniProtKB/Swiss-Prot

P35226, Q16030, Q5T8Z3, Q96F37

UniProtKB/TrEMBL

Q5U0M5, Q6IB93

Related

ENSP00000365851.3, ENST00000376663.8

Conserved Domains (2) summary

cd16736
Location:12 → 65

RING-HC_PCGF4; RING finger found in polycomb group RING finger protein 4 (PCGF4) and similar proteins

cd17165
Location:130 → 226

RAWUL_PCGF4; RING finger- and WD40-associated ubiquitin-like (RAWUL) domain found in polycomb group RING finger protein 4 (PCGF4)