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BRCC3 Gene

protein-coding   GIFtS: 55
GCID: GC0XP154299

BRCA1/BRCA2-Containing Complex, Subunit 3

(Previous name: chromosome X open reading frame 53)
(Previous symbol: CXorf53)
  See related diseases
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
BRCA1/BRCA2-Containing Complex, Subunit 31 2     Chromosome X Open Reading Frame 531
CXorf531 2 3     Lys-63-Specific Deubiquitinase1
BRCC362 3 5     Lys-63-Specific Deubiquitinase BRCC362
C6.1A2 3     EC 3.4.19.-3
BRCA1-A Complex Subunit BRCC362 3     BRCA1/BRCA2-Containing Complex Subunit 33
BRCA1/BRCA2-Containing Complex Subunit 362 3     EC 3.1.2.158
BRISC Complex Subunit BRCC362 3     

External Ids:    HGNC: 241851   Entrez Gene: 791842   Ensembl: ENSG000001855157   OMIM: 3006175   UniProtKB: P467363   

Export aliases for BRCC3 gene to outside databases

Previous GC identifers: GC0XP153865 GC0XP153952 GC0XP142845


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BRCC3 Gene:
This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin ligase. This
complex plays a role in the DNA damage response, where it is responsible for the stable accumulation of BRCA1 at
DNA break sites. The component encoded by this gene can specifically cleave Lys 63-linked polyubiquitin chains,
and it regulates the abundance of these polyubiquitin chains in chromatin. The loss of this gene results in
abnormal angiogenesis and is associated with syndromic moyamoya, a cerebrovascular angiopathy. Alternative
splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 5.
(provided by RefSeq, Jun 2011)

GeneCards Summary for BRCC3 Gene:
BRCC3 (BRCA1/BRCA2-containing complex, subunit 3) is a protein-coding gene. Diseases associated with BRCC3 include moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism, and prolymphocytic leukemia. GO annotations related to this gene include ubiquitin-specific protease activity and ubiquitin thiolesterase activity.

UniProtKB/Swiss-Prot: BRCC3_HUMAN, P46736
Function: Metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains. Does not have activity
toward 'Lys-48'-linked polyubiquitin chains. 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). In the BRCA1-A complex, it
specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX, antagonizing the RNF8-dependent
ubiquitination at double-strand breaks (DSBs). Catalytic subunit of the BRISC complex, a multiprotein complex
that specifically cleaves 'Lys-63'-linked ubiquitin in various substrates. Mediates the specific
'Lys-63'-specific deubiquitination associated with the COP9 signalosome complex (CSN), via the interaction of the
BRISC complex with the CSN complex

Gene Wiki entry for BRCC3 Gene


(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:
NC_000023.11  NT_011681.17  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BRCC3 gene promoter:
         Max1   TBP   HTF   MyoD   Evi-1   CREB   Zic3   MRF-2   c-Myc   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBRCC3 promoter sequence
   Search Chromatin IP Primers for BRCC3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BRCC3


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

BRCC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BRCC3 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP154299:  view genomic region     (about GC identifiers)

Start:
154,299,695 bp from pter      End:
154,351,349 bp from pter
Size:
51,655 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: BRCC3_HUMAN, P46736 (See protein sequence)
Recommended Name: Lys-63-specific deubiquitinase BRCC36  
Size: 316 amino acids; 36072 Da
Subunit: Component of the BRCA1-A complex, at least composed of the BRCA1, BARD1, UIMC1/RAP80, FAM175A/Abraxas,
BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1. In the BRCA1-A complex, interacts directly with FAM175A/Abraxas and
BRE/BRCC45. Component of the BRISC complex, at least composed of the FAM175B/ABRO1, BRCC3/BRCC36, BRE/BRCC45 and
BABAM1/NBA1. The BRISC complex interacts with the CSN complex. Component of the BRCA1/BRCA2 containing complex
(BRCC), which also contains BRCA1, BRCA2, BARD1, BRE and RAD51. BRCC is a ubiquitin E3 ligase complex that
enhances cellular survival following DNA damage. Interacts with BRCA1. Binds polyubiquitin
Sequence caution: Sequence=AAB29005.2; Type=Erroneous initiation; Sequence=CAO03573.1; Type=Erroneous gene model
prediction;
Secondary accessions: A6QRF8 A6QRF9 A8MUX5 A8MWH0 A9Z1Y0 A9Z1Y5 B1B062 B4DQN7 Q16107 Q53YX5
Q9BTZ6
Alternative splicing: 5 isoforms:  P46736-1   P46736-2   P46736-3   P46736-4   P46736-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BRCC3: NX_P46736

Explore proteomics data for BRCC3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys51, Lys65, Lys180
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for BRCC3 (P46736) (see all 13)
     LYTCFQS  YERIEIP  TEAERLAE  LCSQMSAV 


    See BRCC3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001018065.1  NP_001229569.1  NP_077308.1  

    ENSEMBL proteins: 
     ENSP00000344103   ENSP00000328641   ENSP00000358471   ENSP00000358474   ENSP00000413170  
     ENSP00000415152   ENSP00000381988   ENSP00000381998  

    BRCC3 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for BRCC3
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    Novus Biologicals BRCC3 Proteins
    Novus Biologicals BRCC3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BRCC3

    BRCC3 Antibody Products:

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    Novus Biologicals BRCC3 Antibodies
    Abcam antibodies for BRCC3
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    ThermoFisher Antibodies for BRCC3
    LSBio Antibodies in human, mouse, rat for BRCC3

    BRCC3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for BRCC3
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    Cloud-Clone Corp. ELISAs for BRCC3
    Cloud-Clone Corp. CLIAs for BRCC3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR000555 JAB_MPN_dom

    Graphical View of Domain Structure for InterPro Entry P46736

    ProtoNet protein and cluster: P46736

    1 Blocks protein domain: IPB000555 Mov34 family

    UniProtKB/Swiss-Prot: BRCC3_HUMAN, P46736
    Similarity: Belongs to the peptidase M67A family. BRCC36 subfamily
    Similarity: Contains 1 MPN (JAB/Mov34) domain


    BRCC3 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BRCC3_HUMAN, P46736
    Function: Metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains. Does not have activity
    toward 'Lys-48'-linked polyubiquitin chains. 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). In the BRCA1-A complex, it
    specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX, antagonizing the RNF8-dependent
    ubiquitination at double-strand breaks (DSBs). Catalytic subunit of the BRISC complex, a multiprotein complex
    that specifically cleaves 'Lys-63'-linked ubiquitin in various substrates. Mediates the specific
    'Lys-63'-specific deubiquitination associated with the COP9 signalosome complex (CSN), via the interaction of the
    BRISC complex with the CSN complex

         Enzyme Numbers (IUBMB): EC 3.1.2.152 EC 3.4.19.-1

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004221ubiquitin thiolesterase activity IMP19202061
    GO:0004843ubiquitin-specific protease activity IMP19261746
    GO:0005515protein binding IPI14636569
    GO:0008237metallopeptidase activity IMP17525341
    GO:0030234enzyme regulator activity IDA14636569
         
    BRCC3 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BRCC3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BRCC3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BRCC3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BRCC3

    miRNA
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    miRTarBase miRNAs that target BRCC3:
    hsa-mir-92a-3p (MIRT049186), hsa-mir-193b-3p (MIRT041195)

    Block miRNA regulation of human, mouse, rat BRCC3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BRCC3 (see all 10):
    hsa-miR-3140-3p hsa-miR-26b* hsa-miR-218 hsa-miR-383 hsa-miR-302f hsa-miR-518a-5p hsa-miR-9* hsa-miR-1264
    SwitchGear 3'UTR luciferase reporter plasmidBRCC3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BRCC3
    Predesigned siRNA for gene silencing in human, mouse, rat BRCC3

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for BRCC3

    Clone
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    OriGene clones in human, mouse for BRCC3 (see all 15)
    OriGene ORF clones in mouse, rat for BRCC3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): BRCC3 (NM_024332)
    Sino Biological Human cDNA Clone for BRCC3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BRCC3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BRCC3

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRCC3


    (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
    BRCC3_HUMAN, P46736: Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    cytoskeleton1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000151ubiquitin ligase complex IDA14636569
    GO:0000152nuclear ubiquitin ligase complex IDA14636569
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0070531BRCA1-A complex IDA17525341

    BRCC3 for ontologies           About GeneDecksing


    (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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        Pathway & Disease-focused RT2 Profiler PCR Arrays including BRCC3: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for BRCC3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BRCC3 (P467362, 3 ENSP000003819984) via UniProtKB, MINT, STRING, and/or I2D (see all 131)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SNAPC5O759712, 3, ENSP000003195974MINT-67763 I2D: score=5 STRING: ENSP00000319597
    BAG6P463793I2D: score=1 
    ENSG00000096155P463793I2D: score=1 
    ENSG00000227761P463793I2D: score=1 
    ENSG00000228760P463793I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006302double-strand break repair IMP17525341
    GO:0006508proteolysis ----
    GO:0010165response to X-ray IDA14636569
    GO:0010212response to ionizing radiation IMP17525341
    GO:0031572G2 DNA damage checkpoint IMP17525341

    BRCC3 for ontologies           About GeneDecksing



    (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 BRCC3



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for BRCC3 gene (3 alternative transcripts): 
    NM_001018055.2  NM_001242640.1  NM_024332.3  

    Unigene Cluster for BRCC3:

    BRCA1/BRCA2-containing complex, subunit 3
    Hs.558537  [show with all ESTs]
    Unigene Representative Sequence: NM_024332
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000340647(uc011mzz.2) ENST00000330045 ENST00000369459 ENST00000369462(uc004fna.3 uc004fnb.3 uc011mzy.2)
    ENST00000411985 ENST00000453705 ENST00000399026 ENST00000399042
    miRNA
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    Block miRNA regulation of human, mouse, rat BRCC3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BRCC3 (see all 10):
    hsa-miR-3140-3p hsa-miR-26b* hsa-miR-218 hsa-miR-383 hsa-miR-302f hsa-miR-518a-5p hsa-miR-9* hsa-miR-1264
    SwitchGear 3'UTR luciferase reporter plasmidBRCC3 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for BRCC3
    Predesigned siRNA for gene silencing in human, mouse, rat BRCC3
    Clone
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    OriGene ORF clones in mouse, rat for BRCC3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): BRCC3 (NM_024332)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BRCC3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BRCC3
    Primer
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    OriGene qPCR primer pairs and template standards for BRCC3
    OriGene qSTAR qPCR primer pairs in human, mouse for BRCC3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BRCC3
      QuantiTect SYBR Green Assays in human, mouse, rat BRCC3
      QuantiFast Probe-based Assays in human, mouse, rat BRCC3

    Additional mRNA sequence: 

    AK298886.1 AK299194.1 AK310286.1 AK313544.1 AY438030.1 BC002999.1 BC006540.2 S68015.1 
    S68018.1 S68020.1 X64643.1 

    14 DOTS entries:

    DT.86851858  DT.446473  DT.100017668  DT.40115589  DT.100021117  DT.121303603  DT.218423  DT.120886540 
    DT.121303614  DT.121303639  DT.75161565  DT.120886600  DT.121303623  DT.91713796 

    Selected AceView cDNA sequences (see all 143):

    BE464758 BC002999 BE544812 X64643 BI087840 BM904222 CR615605 AA490316 
    AY438030 AW150062 BF056219 AA701258 NM_024332 BQ013350 BE670135 AA768530 
    W69242 AI811411 AA961593 AL556647 R62692 W65467 BX091652 BX118995 

    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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    BRCC3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAAATCTGG
    BRCC3 Expression
    About this image


    BRCC3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
    BRCC3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BRCC3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.558537

    UniProtKB/Swiss-Prot: BRCC3_HUMAN, P46736
    Tissue specificity: Heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Aberrantly
    expressed in the vast majority of breast tumors

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BRCC3: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for BRCC3
    OriGene qSTAR qPCR primer pairs in human, mouse for BRCC3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BRCC3
    QuantiTect SYBR Green Assays in human, mouse, rat BRCC3
    QuantiFast Probe-based Assays in human, mouse, rat BRCC3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRCC3

    (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 eukaryotes.

    Orthologs for BRCC3 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Brcc31 , 5 BRCA1/BRCA2-containing complex, subunit 31, 5 90.2(n)1
    95.7(a)1
      X (38.22 cM)5
    2107661  NM_001166459.11  NP_001159931.11 
     754166285 
    chicken
    (Gallus gallus)
    Aves BRCC31 BRCA1/BRCA2-containing complex, subunit 3 75.51(n)
    85.3(a)
      422201  XM_420195.4  XP_420195.3 
    lizard
    (Anolis carolinensis)
    Reptilia BRCC36
    BRCA1/BRCA2-containing complex, subunit 3
    92(a)
    1 ↔ 1
    GL343528.1(426292-432230)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.130952 Xenopus laevis transcribed sequence with moderate similarity more 76.24(n)    BJ623639.1 
    zebrafish
    (Danio rerio)
    Actinopterygii brcc36
    BRCA1/BRCA2-containing complex, subunit 3
    75(a)
    1 ↔ 1
    21(44445721-44454682) ENSDARG00000078456
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G068201 AT3G06820 57.78(n)
    58(a)
      819866  NM_001084649.1  NP_001078118.1 
    rice
    (Oryza sativa)
    Liliopsida Os.140932 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.64(n)    AK101373.1 


    ENSEMBL Gene Tree for BRCC3 (if available)
    TreeFam Gene Tree for BRCC3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BRCC3 gene
    1 SIMAP similar gene for BRCC3 using alignment to 4 protein entries:     BRCC3_HUMAN (see all proteins):
    c6.1A

    BRCC3 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BRCC3
    PGOHUM00000235849


    (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 BRCC3 (see all 531)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs22982591,2
    C--154301790(-) GAAACA/C/GGCATA 3 -- int10--------
    rs1889007501,2
    --154301836(+) TGAAGA/GATCTA 3 -- int10--------
    rs1143070011,2
    C--154301951(+) CTGTCA/GCTGCC 3 -- int10--------
    rs1932293751,2
    --154302085(+) AAACTA/GACCAT 3 -- int10--------
    rs1845287381,2
    --154302200(+) CTAATC/TGTGGT 3 -- int10--------
    rs1481094211,2
    --154302267(+) CAAAAA/TAAATG 3 -- int10--------
    rs1882424871,2
    --154302296(+) CACCAA/GGTTAT 3 -- int10--------
    rs1813028351,2
    --154302318(+) TTCATC/GTACTT 3 -- int10--------
    rs1839809821,2
    --154302460(+) TCTGGA/GTCTTC 3 -- int10--------
    rs1891563331,2
    --154302499(+) ACATAA/TGCTTA 3 -- int10--------

    HapMap Linkage Disequilibrium report for BRCC3 (154299695 - 154351349 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for BRCC3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1011078CNV Deletion20482838
    nsv518251CNV Gain19592680
    esv29972CNV Gain17803354
    esv29815CNV Gain19812545
    esv33784CNV Gain+Loss17666407

    Human Gene Mutation Database (HGMD): BRCC3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BRCC3
    DNA2.0 Custom Variant and Variant Library Synthesis for BRCC3

    (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: 300617    OMIM disorders: --

    UniProtKB/Swiss-Prot: BRCC3_HUMAN, P46736
  • Note=A chromosomal aberration involving BRCC3 is a cause of pro-lymphocytic T-cell leukemia (T-PLL).
    Translocation t(X;14)(q28;q11) with TCRA

  • 13 diseases for BRCC3:    
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    moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism    prolymphocytic leukemia    t-cell prolymphocytic leukemia    moyamoya disease
    familial breast cancer    ataxia telangiectasia    short stature    ataxia
    t-cell leukemia    breast cancer    leukemia    multiple myeloma
    myeloma


    BRCC3 for disorders           About GeneDecksing


    Export disorders for BRCC3 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 BRCC3 gene, integrated from 10 sources (see all 49):
    (articles sorted by number of sources associating them with BRCC3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Regulation of BRCC, a holoenzyme complex containing BRCA1 and BRCA2, by a signalosome-like subunit and its role in DNA repair. (PubMed id 14636569)1, 2, 3 Dong Y.... Shiekhattar R. (Mol. Cell 2003)
    2. Isolation and sequence of two genes associated with a CpG island 5' of the factor VIII gene. (PubMed id 1303175)1, 2, 3 Kenwrick S.... Gitschier J. (Hum. Mol. Genet. 1992)
    3. The chromosomal translocation t(X;14)(q28;q11) in T-cell pro- lymphocytic leukaemia breaks within one gene and activates another. (PubMed id 8247530)1, 2, 9 Fisch P.... Rabbitts T.H. (Oncogene 1993)
    4. MERIT40 facilitates BRCA1 localization and DNA damage repair. (PubMed id 19261748)1, 2 Feng L.... Chen J. (Genes Dev. 2009)
    5. The Rap80-BRCC36 de-ubiquitinating enzyme complex antagonizes RNF8- Ubc13-dependent ubiquitination events at DNA double strand breaks. (PubMed id 19202061)1, 2 Shao G.... Greenberg R.A. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    6. NBA1, a new player in the Brca1 A complex, is required for DNA damage resistance and checkpoint control. (PubMed id 19261749)1, 2 Wang B.... Elledge S.J. (Genes Dev. 2009)
    7. MERIT40 controls BRCA1-Rap80 complex integrity and recruitment to DNA double-strand breaks. (PubMed id 19261746)1, 2 Shao G.... Greenberg R.A. (Genes Dev. 2009)
    8. K63-specific deubiquitination by two JAMM/MPN+ complexes: BRISC- associated Brcc36 and proteasomal Poh1. (PubMed id 19214193)1, 2 Cooper E.M....Cohen R.E. (EMBO J. 2009)
    9. RAP80 targets BRCA1 to specific ubiquitin structures at DNA damage sites. (PubMed id 17525341)1, 2 Sobhian B.... Greenberg R.A. (Science 2007)
    10. Ubc13/Rnf8 ubiquitin ligases control foci formation of the Rap80/Abraxas/Brca1/Brcc36 complex in response to DNA damage. (PubMed id 18077395)1, 2 Wang B. and Elledge S.J. (Proc. Natl. Acad. Sci. U.S.A. 2007)

    (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: 79184 HGNC: 24185 AceView: C6.1A Ensembl:ENSG00000185515 euGenes: HUgn79184
    ECgene: BRCC3 H-InvDB: BRCC3

    (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 BRCC3 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 BRCC3 gene:
    Search GeneIP for patents involving BRCC3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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