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

BRAT1 Gene

protein-coding   GIFtS: 49
GCID: GC07M002577

BRCA1-Associated ATM Activator 1

(Previous name: chromosome 7 open reading frame 27)
(Previous symbols: C7orf27, BAAT1)
  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)
About This Section

Aliases
BRCA1-Associated ATM Activator 11 2     Chromosome 7 Open Reading Frame 271
BAAT11 2 3     RMFSL2
C7orf271 2 3     HEAT Repeat-Containing Protein C7orf272
BRCA1-Associated Protein Required For ATM Activation Protein 11 2 3     

External Ids:    HGNC: 217011   Entrez Gene: 2219272   Ensembl: ENSG000001060097   OMIM: 6145065   UniProtKB: Q6PJG63   

Export aliases for BRAT1 gene to outside databases


(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 BRAT1 Gene:
The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast cancer
1) protein and and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of
cell cycle checkpoint signalling pathways that are required for cellular responses to DNA damage such as
double-strand breaks that are induced by ionizing radiation and complexes with BRCA1 in the multi-protein complex
BASC (BRAC1-associated genome surveillance complex). The protein encoded by this gene is thought to play a role
in the DNA damage pathway regulated by BRCA1 and ATM. (provided by RefSeq, Mar 2012)

GeneCards Summary for BRAT1 Gene: 
BRAT1 (BRCA1-associated ATM activator 1) is a protein-coding gene. Diseases associated with BRAT1 include ataxia telangiectasia, and dysautonomia. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: BRAT1_HUMAN, Q6PJG6
Function: Required for activation of ATM following ionizing radiation. May act by regulating dephosphorylation of
ATM




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007819.17  NC_018918.2  NT_079592.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for BRAT1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see first 1): BRAT1 promoter sequences (S717092  S717159  S717519)
   Search SABiosciences Chromatin IP Primers for BRAT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BRAT1


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

Entrez Gene cytogenetic band: 7p22.3   Ensembl cytogenetic band:  7p22.3   HGNC cytogenetic band: 7p22.3

BRAT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BRAT1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M002577:  view genomic region     (about GC identifiers)

Start:
2,577,444 bp from pter      End:
2,595,392 bp from pter
Size:
17,949 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 2,625,313-2,643,304     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BRAT1_HUMAN, Q6PJG6 (See protein sequence)
Recommended Name: BRCA1-associated ATM activator 1  
Size: 821 amino acids; 88119 Da
Subunit: Interacts with BRCA1 and ATM
Subcellular location: Nucleus. Note=Present at double strand breaks (DSBs) following ionizing radiation treatment
Sequence caution: Sequence=BAB15772.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A4D200 C9JY24 Q8IW85 Q8IZ43 Q8WVR8 Q96IV9 Q9H7J8 Q9UFA3
Alternative splicing: 3 isoforms:  Q6PJG6-1   Q6PJG6-2   Q6PJG6-3   (No experimental confirmation available. Ref.5 (AAH40704) sequence is in conflict in position: 49:P->T)

Explore the universe of human proteins at neXtProt for BRAT1: NX_Q6PJG6

Explore proteomics data for BRAT1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6PJG6

  • BRAT1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BRAT1 Protein Expression
    REFSEQ proteins: NP_689956.2  
    ENSEMBL proteins: 
     ENSP00000339637   ENSP00000409209  

    Human Recombinant Protein Products for BRAT1: 
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    Cloud-Clone Corp. Proteins for BRAT1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16452482

    BRAT1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR000357 HEAT
     IPR011989 ARM-like
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q6PJG6

    ProtoNet protein and cluster: Q6PJG6

    UniProtKB/Swiss-Prot: BRAT1_HUMAN, Q6PJG6
    Similarity: Contains 2 HEAT repeats


    BRAT1 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BRAT1_HUMAN, Q6PJG6
    Function: Required for activation of ATM following ionizing radiation. May act by regulating dephosphorylation of
    ATM

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI16452482
         
    BRAT1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BRAT1:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for BRAT1 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRAT1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BRAT1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for BRAT1 (Q6PJG63 ENSP000003396374) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    SUMO2ENSP000004059654STRING: ENSP00000405965
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010212response to ionizing radiation IMP16452482

    BRAT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BRAT1

    Search CenterWatch for drugs/clinical trials and news about BRAT1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BRAT1 gene: 
    NM_152743.3  

    Unigene Cluster for BRAT1:

    BRCA1-associated ATM activator 1
    Hs.520623  [show with all ESTs]
    Unigene Representative Sequence: NM_152743
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000340611(uc003smi.3) ENST00000493232 ENST00000467558 ENST00000469750(uc003smh.4 uc003smj.2)
    ENST00000473879 ENST00000421712
    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AL133088.1 BC007209.1 BC015632.2 BC023561.2 

    9 DOTS entries:

    DT.91746684  DT.95319778  DT.95319768  DT.95319767  DT.101983036  DT.100791018  DT.100791016  DT.121111633 
    DT.97859408 

    24/208 AceView cDNA sequences (see all 208):

    BM825687 BX284041 BU556454 NM_152743 BE043102 BM931086 BQ427534 AI394324 
    BU731056 BE303038 BE247601 BC007209 BI335238 AW005320 BM916568 BF726952 
    AA112910 AI275736 BQ951743 AA078181 BC023561 BE043101 BQ045151 BQ026094 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for BRAT1 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b ^ 14 ^
    SP1:                          -     -                                                                       -                 -                             -   
    SP2:                          -     -                                                                       -                 -                                 
    SP3:                                                                                                                          -                                 
    SP4:                                                                                      -     -           -                 -                                 
    SP5:                                                                                                        -                                                   

    ExUns: 15 ^ 16 ^ 17 ^ 18a · 18b
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for BRAT1

    (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

    BRAT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCTTCTGTG
    BRAT1 Expression
    About this image


    See BRAT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BRAT1

    SOURCE GeneReport for Unigene cluster: Hs.520623

    UniProtKB/Swiss-Prot: BRAT1_HUMAN, Q6PJG6
    Tissue specificity: Ubiquitously expressed

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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for BRAT1 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Brat15
    Baat11
    BRCA1-associated ATM activator 11, 5 77.67(n)1
    73.69(a)1
      5 (79.25 cM)5
    2318411  NM_181066.21  NP_851411.11 
     1407050115 
    chicken
    (Gallus gallus)
    Aves BRAT11 BRCA1-associated ATM activator 1 55.84(n)
    49.2(a)
      769893  XM_001233205.2  XP_001233206.2 
    lizard
    (Anolis carolinensis)
    Reptilia BRAT16
    BRCA1-associated ATM activator 1
    47(a)
    1 ↔ 1
    GL343340.1(364815-375725)
    zebrafish
    (Danio rerio)
    Actinopterygii brat11 BRCA1-associated ATM activator 1 47.01(n)
    37.37(a)
      678547  NM_001040305.1  NP_001035395.1 


    ENSEMBL Gene Tree for BRAT1 (if available)
    TreeFam Gene Tree for BRAT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BRAT1 gene
    3 SIMAP similar genes for BRAT1 using alignment to 2 protein entries:     BRAT1_HUMAN (see all proteins):
    FLJ00053    FLJ00283    FLJ00321

    BRAT1 for paralogs           About GeneDecksing



    (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) 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

    10/743 SNPs in BRAT1 are shown (see all 743)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1479784141,2
    Cuntested12554279(+) CCCCAA/C/GGAAGT 2 L syn10--------
    rs1458483081,2
    --2550292(+) AAACTC/GCTGGC 1 -- ds50010--------
    rs1490161841,2
    --2550301(+) GCCTTA/GAACAA 1 -- ds50010--------
    rs1123512571,2
    C--2550327(+) CTCCCG/AAAGTG 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1926556411,2
    --2550403(+) CCGGGC/TGGAGT 1 -- ds50010--------
    rs1838825351,2
    --2550529(+) AAAAAA/TATTAG 1 -- ds50010--------
    rs1893402551,2
    --2550570(+) AGCTAC/TTCGGG 1 -- ds50010--------
    rs1420543441,2
    --2550673(+) GAAACC/TCCATC 1 -- ds50010--------
    rs1819554591,2
    --2550699(+) ACAGAC/TAGATA 1 -- ds50010--------
    rs1859165581,2
    --2550798(+) TAACTC/GAAAAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for BRAT1 (2577444 - 2595392 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for BRAT1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv887298CNV Loss21882294
    dgv7117n71CNV Loss21882294
    dgv7118n71CNV Loss21882294
    nsv887297CNV Loss21882294
    nsv830887CNV Loss17160897
    dgv7120n71CNV Loss21882294
    dgv7116n71CNV Loss21882294
    dgv7119n71CNV Loss21882294
    nsv823981CNV Gain20364138


    Human Gene Mutation Database (HGMD): BRAT1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing BRAT1
    DNA2.0 Custom Variant and Variant Library Synthesis for BRAT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614506    OMIM disorders: --

    UniProtKB/Swiss-Prot: BRAT1_HUMAN, Q6PJG6
  • Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL) [MIM:614498]: A lethal, neonatal,
    neurologic disorder characterized by episodic jerking that is apparent in utero, lack of psychomotor development,
    axial and limb rigidity, frequent multifocal seizures, and dysautonomia. At birth, affected individuals have
    small heads, overlapping cranial sutures, small or absent fontanels, and depressed frontal bones. Infants show
    poorly responsive focal jerks of the tongue, face and arms in a nearly continuous sequence throughout life.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 4 diseases for BRAT1:    About MalaCards
    ataxia telangiectasia    dysautonomia    ataxia    breast cancer


    BRAT1 for disorders           About GeneDecksing


    Export disorders for BRAT1 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 BRAT1 gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with BRAT1)
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    1. ATM activation by ionizing radiation requires BRCA1-associated BAAT1. (PubMed id 16452482)1, 2, 3 Aglipay J.A....Ouchi T. (2006)
    2. Genetic mapping and exome sequencing identify variants associated with five novel diseases. (PubMed id 22279524)1, 2 Puffenberger E.G....Strauss K.A. (2012)
    3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    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. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. VCP phosphorylation-dependent interaction partners pre vent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (2013)
    7. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    10. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 221927 HGNC: 21701 AceView: C7orf27 Ensembl:ENSG00000106009 euGenes: HUgn221927
    ECgene: BRAT1 H-InvDB: BRAT1

    (According to HUGE)
    About This Section
      --

    (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 BRAT1 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 BRAT1 gene:
    Search GeneIP for patents involving BRAT1

    GeneCards and IP:
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