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Aliases for BRE Gene

Aliases for BRE Gene

  • Brain And Reproductive Organ-Expressed (TNFRSF1A Modulator) 2 3 5
  • Brain And Reproductive Organ-Expressed Protein 3 4
  • BRCA1/BRCA2-Containing Complex, Subunit 4 2 3
  • BRCA1/BRCA2-Containing Complex Subunit 45 3 4
  • BRCC45 3 4
  • BRCA1-A Complex Subunit BRE 3
  • BRCC4 3

External Ids for BRE Gene

Previous GeneCards Identifiers for BRE Gene

  • GC02P028034
  • GC02P028206
  • GC02P028088
  • GC02P028025

Summaries for BRE Gene

Entrez Gene Summary for BRE Gene

  • This gene encodes an anti-apoptotic, death receptor-associated protein that interacts with tumor necrosis factor-receptor-1. The encoded protein acts as an adapter in several protein complexes, including the BRCA1-A complex and the BRISC complex. The BRCA1-A complex possesses ubiquitinase activity and targets sites of double strand DNA breaks, while the BRISC complex exhibits deubiquitinase activity and is involved in mitotic spindle assembly. This gene is upregulated in several types of cancer. [provided by RefSeq, Jun 2016]

GeneCards Summary for BRE Gene

BRE (Brain And Reproductive Organ-Expressed (TNFRSF1A Modulator)) is a Protein Coding gene. Diseases associated with BRE include Centrotemporal Epilepsy. Among its related pathways are DNA Double Strand Break Response and Cell Cycle Checkpoints. GO annotations related to this gene include tumor necrosis factor receptor binding and peroxisome targeting sequence binding.

UniProtKB/Swiss-Prot for BRE Gene

  • Component of the BRCA1-A complex, a complex that specifically recognizes Lys-63-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes Lys-63-linked ubiquitin on histones H2A and H2AX (PubMed:17525341, PubMed:19261746, PubMed:19261749, PubMed:19261748). In the BRCA1-A complex, it acts as an adapter that bridges the interaction between BABAM1/NBA1 and the rest of the complex, thereby being required for the complex integrity and modulating the E3 ubiquitin ligase activity of the BRCA1-BARD1 heterodimer (PubMed:21282113, PubMed:19261748). Component of the BRISC complex, a multiprotein complex that specifically cleaves Lys-63-linked ubiquitin in various substrates (PubMed:19214193, PubMed:24075985, PubMed:25283148, PubMed:26195665). Within the BRISC complex, acts as an adapter that bridges the interaction between BABAM1/NBA1 and the rest of the complex, thereby being required for the complex integrity (PubMed:21282113). The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). The BRISC complex plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activity by enhancing its stability and cell surface expression (PubMed:24075985). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985). May play a role in homeostasis or cellular differentiation in cells of neural, epithelial and germline origins. May also act as a death receptor-associated anti-apoptotic protein, which inhibits the mitochondrial apoptotic pathway. May regulate TNF-alpha signaling through its interactions with TNFRSF1A; however these effects may be indirect (PubMed:15465831).

Gene Wiki entry for BRE Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BRE Gene

Genomics for BRE Gene

Regulatory Elements for BRE Gene

Enhancers for BRE Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F027919 1.4 FANTOM5 Ensembl ENCODE 2.3 +31.4 31423 3.4 ELF3 KLF1 JUN SIN3A ZBTB40 KLF7 PRDM10 CREM KLF8 SP3 FOSL2 RBKS SNX17 FNDC4 BRE LOC100420770 LOC105374369
GH02F027656 0.7 FANTOM5 2.2 -233.8 -233789 0.3 MAFK SLC4A1AP GPN1 CCDC121 ZNF512 IFT172 NRBP1 KRTCAP3 SLC5A6 SUPT7L GTF3C2
GH02F027953 1.3 FANTOM5 Ensembl ENCODE 1.3 +67.8 67760 9.4 PKNOX1 MLX SIN3A YY1 FOS REST PPARG SSRP1 PBX2 STAT3 FOSL2 RBKS FLJ31356 FNDC4 C2orf16 CGREF1 LINC01460 BRE GCKR LOC100422227
GH02F028376 1.3 FANTOM5 Ensembl ENCODE 1.3 +490.2 490245 7.4 HDGF PKNOX1 ZBTB40 GATA2 SMARCC2 MCM3 NFYA ZBTB11 CEBPB ZNF592 ZNF512 ENSG00000235267 ENSG00000270210 FOSL2 RBKS PPP1CB BRE LOC105374383 GC02P028390
GH02F028177 0.9 FANTOM5 1.2 +288.2 288177 0.5 GLIS1 ZBTB20 RBKS FOSL2 BRE GC02M027478 LOC100505736
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around BRE on UCSC Golden Path with GeneCards custom track

Promoters for BRE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000300152 559 2201 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1

Genomic Location for BRE Gene

Chromosome:
2
Start:
27,889,941 bp from pter
End:
28,338,901 bp from pter
Size:
448,961 bases
Orientation:
Plus strand

Genomic View for BRE Gene

Genes around BRE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BRE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BRE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BRE Gene

Proteins for BRE Gene

  • Protein details for BRE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NXR7-BRE_HUMAN
    Recommended name:
    BRCA1-A complex subunit BRE
    Protein Accession:
    Q9NXR7
    Secondary Accessions:
    • A8K4X1
    • D6W562
    • D6W563
    • Q13880
    • Q4ZFX8
    • Q53SD0
    • Q969X9
    • Q96P06

    Protein attributes for BRE Gene

    Size:
    383 amino acids
    Molecular mass:
    43552 Da
    Quaternary structure:
    • Component of the ARISC complex, at least composed of UIMC1/RAP80, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1 (PubMed:21282113, PubMed:24075985). Component of the BRCA1-A complex, at least composed of BRCA1, BARD1, UIMC1/RAP80, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1. In the BRCA1-A complex, interacts directly with FAM175A/Abraxas, BRCC3/BRCC36 and BABAM1/NBA1. Binds polyubiquitin. Component of the BRISC complex, at least composed of FAM175B/ABRO1, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1 (PubMed:19214193, PubMed:21282113, PubMed:24075985, PubMed:25283148). Identified in a complex with SHMT2 and the other subunits of the BRISC complex (PubMed:24075985). Component of the BRCA1/BRCA2 containing complex (BRCC), which also contains BRCA1, BRCA2, BARD1, BRCC3/BRCC36 and RAD51. BRCC is a ubiquitin E3 ligase complex that enhances cellular survival following DNA damage. May interact with FAS and TNFRSF1A (PubMed:15465831).

    Alternative splice isoforms for BRE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BRE Gene

Post-translational modifications for BRE Gene

  • Ubiquitination at Lys 26, Lys 41, Lys 162, Lys 367, and Lys 382
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BRE Gene

Domains & Families for BRE Gene

Gene Families for BRE Gene

Protein Domains for BRE Gene

Suggested Antigen Peptide Sequences for BRE Gene

Graphical View of Domain Structure for InterPro Entry

Q9NXR7

UniProtKB/Swiss-Prot:

BRE_HUMAN :
  • Contains 2 ubiquitin-conjugating enzyme family-like (UEV-like) regions. These regions lack the critical Cys residues required for ubiquitination but retain the ability to bind ubiquitin.
  • Belongs to the BRE family.
Domain:
  • Contains 2 ubiquitin-conjugating enzyme family-like (UEV-like) regions. These regions lack the critical Cys residues required for ubiquitination but retain the ability to bind ubiquitin.
Family:
  • Belongs to the BRE family.
genes like me logo Genes that share domains with BRE: view

Function for BRE Gene

Molecular function for BRE Gene

UniProtKB/Swiss-Prot Function:
Component of the BRCA1-A complex, a complex that specifically recognizes Lys-63-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes Lys-63-linked ubiquitin on histones H2A and H2AX (PubMed:17525341, PubMed:19261746, PubMed:19261749, PubMed:19261748). In the BRCA1-A complex, it acts as an adapter that bridges the interaction between BABAM1/NBA1 and the rest of the complex, thereby being required for the complex integrity and modulating the E3 ubiquitin ligase activity of the BRCA1-BARD1 heterodimer (PubMed:21282113, PubMed:19261748). Component of the BRISC complex, a multiprotein complex that specifically cleaves Lys-63-linked ubiquitin in various substrates (PubMed:19214193, PubMed:24075985, PubMed:25283148, PubMed:26195665). Within the BRISC complex, acts as an adapter that bridges the interaction between BABAM1/NBA1 and the rest of the complex, thereby being required for the complex integrity (PubMed:21282113). The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). The BRISC complex plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activity by enhancing its stability and cell surface expression (PubMed:24075985). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985). May play a role in homeostasis or cellular differentiation in cells of neural, epithelial and germline origins. May also act as a death receptor-associated anti-apoptotic protein, which inhibits the mitochondrial apoptotic pathway. May regulate TNF-alpha signaling through its interactions with TNFRSF1A; however these effects may be indirect (PubMed:15465831).
UniProtKB/Swiss-Prot Induction:
Down-regulated by DNA-damaging agents in fibroblasts, by retinoic acid in brain glioma U-251MG and promyelocytic HL-60 cell lines, and by bacterial lipopolysaccharides (LPS) in peripheral blood mononuclear cells (PBMC).

Gene Ontology (GO) - Molecular Function for BRE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000268 peroxisome targeting sequence binding TAS 11676476
GO:0005164 tumor necrosis factor receptor binding IDA 15465831
GO:0005515 protein binding IPI 14636569
GO:0031593 polyubiquitin binding IDA 19261749
genes like me logo Genes that share ontologies with BRE: view
genes like me logo Genes that share phenotypes with BRE: view

Animal Models for BRE Gene

MGI Knock Outs for BRE:
  • Bre tm1a(EUCOMM)Wtsi

Animal Model Products

miRNA for BRE Gene

miRTarBase miRNAs that target BRE

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BRE Gene

Localization for BRE Gene

Subcellular locations from UniProtKB/Swiss-Prot for BRE Gene

Cytoplasm. Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs). {ECO:0000269 PubMed:19261748}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BRE Gene COMPARTMENTS Subcellular localization image for BRE gene
Compartment Confidence
nucleus 5
cytosol 1
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BRE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000152 nuclear ubiquitin ligase complex IDA 14636569
GO:0005634 nucleus IEA,IDA 15465831
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 15465831
GO:0070531 BRCA1-A complex IDA 17525341
genes like me logo Genes that share ontologies with BRE: view

Pathways & Interactions for BRE Gene

genes like me logo Genes that share pathways with BRE: view

Pathways by source for BRE Gene

1 Cell Signaling Technology pathway for BRE Gene
1 KEGG pathway for BRE Gene

Gene Ontology (GO) - Biological Process for BRE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006302 double-strand break repair IMP 19261748
GO:0006303 double-strand break repair via nonhomologous end joining TAS --
GO:0006915 apoptotic process IEA --
GO:0006974 cellular response to DNA damage stimulus IEP 7826398
genes like me logo Genes that share ontologies with BRE: view

No data available for SIGNOR curated interactions for BRE Gene

Transcripts for BRE Gene

Unigene Clusters for BRE Gene

Brain and reproductive organ-expressed (TNFRSF1A modulator):
Representative Sequences:

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BRE Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b
SP1: -
SP2:
SP3: - -
SP4: -
SP5:
SP6: - -
SP7:

Relevant External Links for BRE Gene

GeneLoc Exon Structure for
BRE
ECgene alternative splicing isoforms for
BRE

Expression for BRE Gene

mRNA expression in normal human tissues for BRE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BRE Gene

This gene is overexpressed in Adrenal Gland (x12.5).

Protein differential expression in normal tissues from HIPED for BRE Gene

This gene is overexpressed in Bone (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BRE Gene



Protein tissue co-expression partners for BRE Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BRE Gene:

BRE

SOURCE GeneReport for Unigene cluster for BRE Gene:

Hs.258314

mRNA Expression by UniProt/SwissProt for BRE Gene:

Q9NXR7-BRE_HUMAN
Tissue specificity: Expressed in all cell lines examined. Highly expressed in placenta.
genes like me logo Genes that share expression patterns with BRE: view

Primer Products

Orthologs for BRE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BRE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BRE 34
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia BRE 34 35
  • 94.17 (n)
cow
(Bos Taurus)
Mammalia BRE 34 35
  • 92.95 (n)
oppossum
(Monodelphis domestica)
Mammalia BRE 35
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bre 34
  • 90.34 (n)
mouse
(Mus musculus)
Mammalia Bre 34 16 35
  • 90.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BRE 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves BRE 34 35
  • 82.51 (n)
lizard
(Anolis carolinensis)
Reptilia BRE 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bre 34
  • 78.33 (n)
Str.8399 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.6907 34
zebrafish
(Danio rerio)
Actinopterygii bre 34 35
  • 73.98 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G42470 34
  • 44.55 (n)
rice
(Oryza sativa)
Liliopsida Os06g0715600 34
  • 43.99 (n)
Species where no ortholog for BRE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BRE Gene

ENSEMBL:
Gene Tree for BRE (if available)
TreeFam:
Gene Tree for BRE (if available)

Paralogs for BRE Gene

No data available for Paralogs for BRE Gene

Variants for BRE Gene

Sequence variations from dbSNP and Humsavar for BRE Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs193920803 Uncertain significance 28,129,326(+) TGAGG(A/G)CACTG nc-transcript-variant, reference, missense
rs10165139 -- 28,201,078(+) TGTGA(A/G)TTTTT intron-variant
rs10165668 -- 28,306,298(+) ctatt(A/G)tatca intron-variant
rs10165870 -- 28,113,871(+) ccttg(C/G/T)aagtt intron-variant
rs10165930 -- 28,160,974(+) CTACC(A/G)CAGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BRE Gene

Variant ID Type Subtype PubMed ID
esv2252743 CNV deletion 18987734
esv2470846 CNV deletion 19546169
esv2659295 CNV deletion 23128226
esv2667473 CNV deletion 23128226
esv2719837 CNV deletion 23290073
esv2759034 CNV gain 17122850
esv3306953 CNV mobile element insertion 20981092
esv33936 CNV loss 17666407
esv3443970 CNV insertion 20981092
esv3554189 CNV deletion 23714750
esv3554200 CNV deletion 23714750
esv3583681 CNV loss 25503493
esv3590153 CNV loss 21293372
esv3590154 CNV loss 21293372
esv3590156 CNV loss 21293372
esv3891659 CNV loss 25118596
esv3893 CNV loss 18987735
esv9589 CNV gain 19470904
nsv1006830 CNV gain 25217958
nsv1127714 CNV deletion 24896259
nsv1134843 CNV deletion 24896259
nsv1144901 CNV deletion 24896259
nsv1152707 CNV deletion 26484159
nsv215424 CNV deletion 16902084
nsv473802 CNV novel sequence insertion 20440878
nsv476364 CNV novel sequence insertion 20440878
nsv516533 CNV loss 19592680
nsv527688 CNV loss 19592680
nsv819706 CNV gain 19587683
nsv833625 CNV loss 17160897
nsv953762 CNV duplication 24416366
nsv955056 CNV deletion 24416366
nsv963217 CNV duplication 23825009
nsv978989 CNV duplication 23825009

Variation tolerance for BRE Gene

Residual Variation Intolerance Score: 13.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.63; 13.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BRE Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BRE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BRE Gene

Disorders for BRE Gene

MalaCards: The human disease database

(1) MalaCards diseases for BRE Gene - From: DISEASES

Disorder Aliases PubMed IDs
centrotemporal epilepsy
  • benign epilepsy with centrotemporal spikes
- elite association - COSMIC cancer census association via MalaCards
Search BRE in MalaCards View complete list of genes associated with diseases

Relevant External Links for BRE

Genetic Association Database (GAD)
BRE
Human Genome Epidemiology (HuGE) Navigator
BRE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BRE
genes like me logo Genes that share disorders with BRE: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BRE Gene

Publications for BRE Gene

  1. A death receptor-associated anti-apoptotic protein, BRE, inhibits mitochondrial apoptotic pathway. (PMID: 15465831) Li Q. … Chui Y.-L. (J. Biol. Chem. 2004) 3 4 22 64
  2. Identification of a brain- and reproductive-organs-specific gene responsive to DNA damage and retinoic acid. (PMID: 7826398) Li L. … Chan J.Y.-H. (Biochem. Biophys. Res. Commun. 1995) 2 3 4 64
  3. The deubiquitinating enzyme complex BRISC is required for proper mitotic spindle assembly in mammalian cells. (PMID: 26195665) Yan K. … Shao G. (J. Cell Biol. 2015) 3 4 64
  4. ABRO1 suppresses tumourigenesis and regulates the DNA damage response by stabilizing p53. (PMID: 25283148) Zhang J. … Yang X. (Nat Commun 2014) 3 4 64
  5. A BRISC-SHMT complex deubiquitinates IFNAR1 and regulates interferon responses. (PMID: 24075985) Zheng H. … Greenberg R.A. (Cell Rep. 2013) 3 4 64

Products for BRE Gene

Sources for BRE Gene

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