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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BRCC3 Gene

protein-coding   GIFtS: 53
GCID: GC0XP154299

BRCA1/BRCA2-containing complex, subunit 3

(Previous name: chromosome X open reading frame 53 )
(Previous symbol: CXorf53)
 Explore 6 diseases affiliated with
BRCC3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for BRCC3    

Aliases
for BRCC3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
BRCA1/BRCA2-Containing Complex, Subunit 31 2     BRISC Complex Subunit BRCC362 3
BRCC361 2 3     Chromosome X Open Reading Frame 531
C6.1A1 2 3     Lys-63-Specific Deubiquitinase BRCC362
CXorf531 2 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

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


Summaries
for BRCC3 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for BRCC3:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_167198.1  
Regulatory elements:
   SABiosciences 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 plasmid: BRCC3 promoter sequence
   Search SABiosciences Chromatin IP Primers for BRCC3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for BRCC3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P46736

    • 4/13 DME Specific Peptides for BRCC3 (P46736) (see all 13)
     LYTCFQS  YERIEIP  TEAERLAE  LCSQMSAV 

    BRCC3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000344103   ENSP00000328641   ENSP00000358471   ENSP00000358474   ENSP00000413170  
     ENSP00000415152   ENSP00000381988   ENSP00000381998  

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    Novus Biologicals BRCC3 Proteins
    Novus Biologicals BRCC3 Lysates
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    Uscn Proteins for BRCC3

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000151ubiquitin ligase complex IDA14636569
    GO:0000152nuclear ubiquitin ligase complex IDA14636569
    GO:0005634nucleus IDA19202061
    GO:0070531BRCA1-A complex IDA19261746
    GO:0070552BRISC complex IDA19214193


    BRCC3 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for BRCC3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    BRCC3 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000555 JAB1_Mov34_MPN_PAD1

    Graphical View of Domain Structure for InterPro Entry P46736

    ProtoNet protein and cluster: P46736

    1 Blocks protein family: 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


    Function
    for BRCC3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

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

    miRNA
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    Gene Editing
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    Clone
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004221ubiquitin thiolesterase activity IMP19214193
    GO:0004843ubiquitin-specific protease activity IMP19261746
    GO:0005515protein binding IPI19261748
    GO:0008237metallopeptidase activity IMP19261746
    GO:0030234enzyme regulator activity IDA14636569


    BRCC3 for ontologies           About GeneDecksing



    Pathways & Interactions
    for BRCC3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BRCC3

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

    5/52 Interacting proteins for BRCC3 (P467362, 3 ENSP000003819984) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SNAPC5O759712, 3, ENSP000003195974MINT-67763 I2D: score=5 STRING: ENSP00000319597
    UBCP0CG482, 3, ENSP000003448184MINT-7230273 I2D: score=2 STRING: ENSP00000344818
    BRCA1P383983, ENSP000003502834I2D: score=3 STRING: ENSP00000350283
    BREQ9NXR73, ENSP000003434124I2D: score=3 STRING: ENSP00000343412
    BABAM1Q9NWV83, ENSP000003524084I2D: score=2 STRING: ENSP00000352408
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006302double-strand break repair IMP19261748
    GO:0006508proteolysis IEA--
    GO:0010165response to X-ray IDA14636569
    GO:0010212response to ionizing radiation IMP19261746
    GO:0031572G2/M transition DNA damage checkpoint IMP17525341


    BRCC3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for BRCC3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for BRCC3
    Search CenterWatch for drugs/clinical trials and news about BRCC3 

    Transcripts
    for BRCC3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    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 plasmid: BRCC3 3' UTR sequence
    Inhib. RNA
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    Additional cDNA 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 

    24/143 AceView cDNA sequences (see all 143):

    CR615605 BC002999 R62692 CD365936 W69242 BM904222 BE670135 BX091652 
    AY438030 AI811411 BQ013350 NM_024332 BP375575 AA701258 AA490316 W65467 
    AA768530 BF056219 AA961593 BE544812 CR593339 R62639 BE464758 AW150062 

    GeneLoc Exon Structure


    Expression
    for BRCC3 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BRCC3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAAATCTGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    BRCC3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Skeletal MuscleHyoid Arch MusclesMononuclear MyocytesSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMononuclear MyocytesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See BRCC3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BRCC3

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including BRCC3: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

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    In Situ
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    Orthologs
    for BRCC3 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for BRCC3 gene from 8/22 species (see all 22)    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 91.64(n)1
    97.25(a)1    		   X (38.22 cM)5
    2107661  NM_001166457.11  NP_001159929.11 
     754166285 
    chicken
    (Gallus gallus)    		 Aves BRCC31 BRCA1/BRCA2-containing complex, subunit 3 81.15(n)
    93.46(a)    		   422201  XM_003641096.1  XP_003641144.1 
    lizard
    (Anolis carolinensis)    		 Reptilia BRCC36
    		 --
    		 82(a)
    		 1 ↔ 1
    		 GL343528.1(426283-431111)
    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 LOC1003338451 lys-63-specific deubiquitinase BRCC36-like 77.35(n)
    90.35(a)    		   100333845  XM_002666091.1  XP_002666137.1 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 44(a)
    		 1 ↔ 1
    		 GroupUn.89(5529-6672)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT3G068201 BRCA1/BRCA2-containing complex subunit 3 50.84(n)
    47.47(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
    for BRCC3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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


    Genomic Variants
    for BRCC3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/423 NCBI SNPs in BRCC3 are shown (see all 423)     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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for BRCC3
         3 CNVs: 97111 23331 68061
         1 Indel: 97112
    Human Gene Mutation Database (HGMD): BRCC3

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    Disorders / Diseases
    for BRCC3 gene

    (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.)
    About This Section
    BRCC3 for disorders           About GeneDecksing

    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

    6 diseases for BRCC3:    About MalaCards
    prolymphocytic leukemia    t-cell prolymphocytic leukemia    ataxia telangiectasia    ataxia
    leukemia    t-cell leukemia


    Export disorders for BRCC3 gene to outside databases

    Publications
    for BRCC3 gene

    (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)
    About This Section

    PubMed articles for BRCC3 gene, integrated from 9 sources (see all 45):
    (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. (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. (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. (1993)
    4. MERIT40 facilitates BRCA1 localization and DNA damage repair. (PubMed id 19261748)1, 2 Feng L.... Chen J. (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. (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. (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. (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. (2009)
    9. RAP80 targets BRCA1 to specific ubiquitin structures at DNA damage sites. (PubMed id 17525341)1, 2 Sobhian B.... Greenberg R.A. (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. (2007)

    External Searches for BRCC3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing BRCC3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79184 HGNC: 24185 AceView: C6.1A Ensembl:ENSG00000185515 euGenes: HUgn79184
    ECgene: BRCC3 H-InvDB: BRCC3

    Other Databases showing BRCC3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing BRCC3 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BRCC3 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for BRCC3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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