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BRI3BP Gene

protein-coding   GIFtS: 47
GCID: GC12P125478

BRI3 Binding Protein

  See BRI3BP-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
BRI3 Binding Protein1 2     BNAS12
Cervical Cancer 1 Proto-Oncogene-Binding Protein KG192 3     HCCR-12
HCCRBP-12 3     HCCR-22
KG192 3     BRI3-Binding Protein2
I3-Binding Protein2 3     Cervical Cancer Oncogene Binding Protein2

External Ids:    HGNC: 142511   Entrez Gene: 1407072   Ensembl: ENSG000001849927   OMIM: 6156275   UniProtKB: Q8WY223   

Export aliases for BRI3BP gene to outside databases

Previous GC identifers: GC12P124206 GC12P125244 GC12P123831 GC12P124003 GC12P122461


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for BRI3BP Gene:
BRI3BP (BRI3 binding protein) is a protein-coding gene. Diseases associated with BRI3BP include cervical cancer.

UniProtKB/Swiss-Prot: BRI3B_HUMAN, Q8WY22
Function: Involved in tumorigenesis and may function by stabilizing p53/TP53




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the BRI3BP gene promoter:
         Elk-1   SREBP-1c   LCR-F1   AP-2gamma   HNF-4alpha1   SREBP-1b   Ik-2   SREBP-1a   HSF2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBRI3BP promoter sequence
   Search Chromatin IP Primers for BRI3BP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BRI3BP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.31   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24.1

BRI3BP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BRI3BP gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P125478:  view genomic region     (about GC identifiers)

Start:
125,478,194 bp from pter      End:
125,515,777 bp from pter
Size:
37,584 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: BRI3B_HUMAN, Q8WY22 (See protein sequence)
Recommended Name: BRI3-binding protein  
Size: 251 amino acids; 27836 Da
Subunit: Interacts with LETMD1
Sequence caution: Sequence=AAL33003.2; Type=Frameshift; Positions=43, 47, 59;
Secondary accessions: Q8WY23

Explore the universe of human proteins at neXtProt for BRI3BP: NX_Q8WY22

Explore proteomics data for BRI3BP at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys71
  • Modification sites at PhosphoSitePlus

  • See BRI3BP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_542193.3  
    ENSEMBL proteins: 
     ENSP00000340761  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q8WY22


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BRI3B_HUMAN, Q8WY22
    Function: Involved in tumorigenesis and may function by stabilizing p53/TP53

    Animal Models:

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    miRNA
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    miRTarBase miRNAs that target BRI3BP:
    hsa-mir-155-5p (MIRT021031), hsa-mir-1 (MIRT001380), hsa-mir-122-5p (MIRT023337)

    Block miRNA regulation of human, mouse, rat BRI3BP using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate BRI3BP:
    hsa-miR-520d-5p hsa-miR-524-5p hsa-miR-3170
    SwitchGear 3'UTR luciferase reporter plasmidBRI3BP 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BRI3B_HUMAN, Q8WY22: Mitochondrion outer membrane; Multi-pass membrane protein (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    plasma membrane3
    extracellular2
    endoplasmic reticulum1
    lysosome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA17943721
    GO:0005741mitochondrial outer membrane IEA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with BRI3BP           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BRI3BP
    Interactions:

        Search GeneGlobe Interaction Network for BRI3BP

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5 Interacting proteins for BRI3BP (Q8WY222, 3 ENSP000003407614) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRAF6Q9Y4K32, 3MINT-49598 I2D: score=2 
    ESR1P033723, ENSP000002062494I2D: score=1 STRING: ENSP00000206249
    TRAF2Q129333I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    --ENSP000003168404STRING: ENSP00000316840
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BRI3BP (BRI3B)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BRI3BP gene: 
    NM_080626.5  

    Unigene Cluster for BRI3BP:

    BRI3 binding protein
    Hs.596464  [show with all ESTs]
    Unigene Representative Sequence: AK025766
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000341446(uc001uha.1)
    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate BRI3BP:
    hsa-miR-520d-5p hsa-miR-524-5p hsa-miR-3170
    SwitchGear 3'UTR luciferase reporter plasmidBRI3BP 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BRI3BP
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat BRI3BP
      QuantiFast Probe-based Assays in human, mouse, rat BRI3BP

    Additional mRNA sequence: 

    AF283671.2 AF284094.1 AF441865.1 AK025766.1 AK055703.1 BC034525.1 

    5 DOTS entries:

    DT.430431  DT.100746921  DT.92420185  DT.100029880  DT.100029878 

    Selected AceView cDNA sequences (see all 175):

    AA662180 AA773307 BX106748 BE042685 AA436415 AA662218 BM839748 CR622106 
    CA488612 AA490885 BE867627 BU856513 BQ927181 AI669208 AA931656 BU850149 
    AW003102 AA927474 BE891822 CF528053 BC034525 BE207709 CA307286 AA860547 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BRI3BP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTTTGTTTT
    BRI3BP Expression
    About this image

    BRI3BP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BRI3BP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.596464

    UniProtKB/Swiss-Prot: BRI3B_HUMAN, Q8WY22
    Tissue specificity: Most abundantly expressed in brain, liver and kidney. Overexpressed in leukemia and lymphoma
    cell lines, as well as in various carcinomas

        Custom PCR Arrays for BRI3BP
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for BRI3BP gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bri3bp1 , 5 Bri3 binding protein1, 5 83.54(n)1
    82.19(a)1
      5 (64.21 cM)5
    768091  NM_029752.21  NP_084028.11 
     1254415685 
    chicken
    (Gallus gallus)
    Aves BRI3BP1 BRI3 binding protein 75.21(n)
    66.5(a)
      416812  NM_001040120.1  NP_001035209.1 
    lizard
    (Anolis carolinensis)
    Reptilia BRI3BP6
    BRI3 binding protein
    69(a)
    1 ↔ 1
    LGb(1298637-1308580)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.191252 Xenopus laevis transcribed sequence with weak similarity more 72.13(n)    BG410191.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bri3bp1 bri3 binding protein 68.47(n)
    61.58(a)
      327046  NM_001089335.1  NP_001082804.1 


    ENSEMBL Gene Tree for BRI3BP (if available)
    TreeFam Gene Tree for BRI3BP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BRI3BP gene

    Find genes that share paralogs with BRI3BP           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for BRI3BP
    PGOHUM00000234609 PGOHUM00000260710


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BRI3BP (see all 1011)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1909470451,2
    --125476206(+) ATTGTA/GTATTT 1 -- us2k10--------
    rs110579561,2
    C--125476239(+) AAAAAG/ATTTAT 1 -- us2k1 tfbs32Minor allele frequency- A:0.30NA 122
    rs1826987721,2
    --125476363(+) TTGTGC/TCACTA 1 -- us2k10--------
    rs1877295971,2
    --125476376(+) CCTGGC/TGTAAA 1 -- us2k10--------
    rs1423322211,2
    --125476386(+) AAAAAG/TGTTTT 1 -- us2k10--------
    rs1466010601,2
    --125476441(+) GCCCAC/GGCTGG 1 -- us2k10--------
    rs1927453061,2
    --125476448(+) CTGGAG/TTGCAG 1 -- us2k10--------
    rs1830656631,2
    --125476672(+) CCTCCA/CGGGTT 1 -- us2k10--------
    rs1478919771,2
    C--125476723(+) ACGGCA/GCCCGC 1 -- us2k10--------
    rs1869798971,2
    --125476814(+) TGATCC/TGCCCG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for BRI3BP (125478194 - 125515777 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for BRI3BP:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv325e199CNV Deletion23128226
    esv998178CNV Insertion20482838
    nsv509485CNV Insertion20534489

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BRI3BP
    DNA2.0 Custom Variant and Variant Library Synthesis for BRI3BP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 615627    OMIM disorders: --

    1 disease for BRI3BP:    
    About MalaCards
    cervical cancer

    1 disease from the University of Copenhagen DISEASES database for BRI3BP:
    Leptospirosis

    Find genes that share disorders with BRI3BP           About GenesLikeMe


    Export disorders for BRI3BP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BRI3BP gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with BRI3BP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, tissue expression pattern, and chromosome location of a novel human gene BRI3BP. (PubMed id 11860200)1, 2, 3, 9 Lin L.... Zhao S. (Biochem. Genet. 2001)
    2. Augmentation of drug-induced cell death by ER protein BRI3BP. (PubMed id 17765869)1, 3, 9 Yamazaki T....Takeshima H. (Biochem. Biophys. Res. Commun. 2007)
    3. HCCRBP-1 directly interacting with HCCR-1 induces tumorigenesis through P53 stabilization. (PubMed id 17943721)1, 2 Ha S.A.... Kim J.W. (Int. J. Cancer 2008)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Identification of proteins associated with ligand-activated estrogen receptor I+ in human breast cancer cell nuclei by tandem affinity purification and nano LC-MS/MS. (PubMed id 21182205)1 Tarallo R....Weisz A. (Proteomics 2011)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    7. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    8. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    9. Quantitative nanoproteomics for protein complexes (QNanoPX) related to estrogen transcriptional action. (PubMed id 19805454)1 Cheng P.C....Chen S.H. (amp 2010)
    10. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (Science 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 140707 HGNC: 14251 AceView: BRI3BP Ensembl:ENSG00000184992 euGenes: HUgn140707
    ECgene: BRI3BP H-InvDB: BRI3BP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BRI3BP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BRI3BP gene:
    Search GeneIP for patents involving BRI3BP

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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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