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

Gene ID: 648, updated on 13-Feb-2019

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
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

Genomic context

See BMI1 in Genome Data Viewer
Location:
10p12.2
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (22321210..22331485)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (22610139..22620414)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L31 pseudogene 45 Neighboring gene COMMD3-BMI1 readthrough Neighboring gene COMM domain containing 3 Neighboring gene sperm associated antigen 6 Neighboring gene uncharacterized LOC105376448

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC12685

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RING-like zinc finger domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
promoter-specific chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
promoter-specific chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
chromatin silencing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hemopoiesis IEP
Inferred from Expression Pattern
more info
PubMed 
histone H2A-K119 monoubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone H2A-K119 monoubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of G0 to G1 transition TAS
Traceable Author Statement
more info
 
negative regulation of gene expression, epigenetic IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of fibroblast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
segment specification TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
PRC1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
PRC1 complex IDA
Inferred from Direct Assay
more info
PubMed 
PcG protein complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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)

  1. NM_005180.9NP_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
    Related
    ENSP00000365851.3, ENST00000376663.7
    Conserved Domains (3) summary
    pfam16207
    Location:162226
    RAWUL; RAWUL domain RING finger- and WD40-associated ubiquitin-like
    cd16736
    Location:1265
    RING-HC_PCGF4; RING finger found in polycomb group RING finger protein 4 (PCGF4) and similar proteins
    cl28410
    Location:4168
    RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    22321210..22331485
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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