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    Brat1 BRCA1-associated ATM activator 1 [ Mus musculus (house mouse) ]

    Gene ID: 231841, updated on 3-Apr-2024

    Summary

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    Official Symbol
    Brat1provided by MGI
    Official Full Name
    BRCA1-associated ATM activator 1provided by MGI
    Primary source
    MGI:MGI:1891679
    See related
    Ensembl:ENSMUSG00000000148 AllianceGenome:MGI:1891679
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Baat1
    Summary
    A similar gene in human encodes a Breast Cancer 1 (BRCA1) interacting protein that is involved in cell cycle checkpoint signaling. The similar human protein is localized to DNA double strand breaks caused by ionizing radiation, and regulates cellular DNA damage response through interactions with Ataxia Telangiectasia Mutated (ATM) and DNA-dependent Protein Kinase. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
    Expression
    Ubiquitous expression in thymus adult (RPKM 17.9), ovary adult (RPKM 17.5) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Brat1 in Genome Data Viewer
    Location:
    5 G2; 5 79.25 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (140688222..140705134)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (140704763..140719379)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene tweety family member 3 Neighboring gene STARR-positive B cell enhancer ABC_E6392 Neighboring gene IQ motif containing E Neighboring gene STARR-positive B cell enhancer ABC_E11307 Neighboring gene archaelysin family metallopeptidase 1 Neighboring gene predicted gene, 30745 Neighboring gene guanine nucleotide binding protein, alpha 12

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Regulation of ATM/DNA-PKcs Phosphorylation by BRCA1-Associated BAAT1. Ouchi M, et al. Genes Cancer, 2010 Dec. PMID 21779444, Free PMC Article
    2. The Potential Role of BRCA1-Associated ATM Activator-1 (BRAT1) in Regulation of mTOR. So EY, et al. J Cancer Biol Res, 2013 Jul-Aug. PMID 25657994, Free PMC Article
    3. Functional interaction of BRCA1/ATM-associated BAAT1 with the DNA-PK catalytic subunit. So EY, et al. Exp Ther Med, 2011 May. PMID 22977523, Free PMC Article
    4. Nedd4 family interacting protein 1 (Ndfip1) is required for ubiquitination and nuclear trafficking of BRCA1-associated ATM activator 1 (BRAT1) during the DNA damage response. Low LH, et al. J Biol Chem, 2015 Mar 13. PMID 25631046, Free PMC Article
    5. Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia. Carninci P, et al. Genome Res, 2003 Jun. PMID 12819125, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Ndfip1 is required during stress for ubiquitinating and trafficking BRAT1 into the nucleus.
      Title: Nedd4 family interacting protein 1 (Ndfip1) is required for ubiquitination and nuclear trafficking of BRCA1-associated ATM activator 1 (BRAT1) during the DNA damage response.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in DNA damage response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA damage response ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in apoptotic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cell migration ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in glucose metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrion localization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of cell growth ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of protein phosphorylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to ionizing radiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    BRCA1-associated ATM activator 1
    Names
    BRCA1-associated protein required for ATM activation protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001276287.1 → NP_001263216.1  BRCA1-associated ATM activator 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (3).
      Source sequence(s)
      AF226663, AK085091, BY788789
      Consensus CDS
      CCDS71696.1
      UniProtKB/TrEMBL
      E9QLK3
      Related
      ENSMUSP00000098074.3, ENSMUST00000100505.3
      Conserved Domains (1) summary
      sd00044
      Location:546 → 575
      HEAT; HEAT repeat [structural motif]

    2. NM_001424644.1 → NP_001411573.1  BRCA1-associated ATM activator 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC110253
      UniProtKB/Swiss-Prot
      Q3TDC8, Q3U442, Q6NV65, Q8C3R1, Q8C3T3, Q9JKU7

    3. NM_001424645.1 → NP_001411574.1  BRCA1-associated ATM activator 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC110253

    4. NM_001424646.1 → NP_001411575.1  BRCA1-associated ATM activator 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC110253

    5. NM_001424647.1 → NP_001411576.1  BRCA1-associated ATM activator 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC110253

    6. NM_001424648.1 → NP_001411577.1  BRCA1-associated ATM activator 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC110253

    7. NM_181066.4 → NP_851411.1  BRCA1-associated ATM activator 1 isoform 2

      See identical proteins and their annotated locations for NP_851411.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 3. The encoded isoform (2) has a shorter N-terminus, compared to isoform 3.
      Source sequence(s)
      AC110253
      Consensus CDS
      CCDS19823.1
      UniProtKB/Swiss-Prot
      Q3TDC8, Q3U442, Q6NV65, Q8C3R1, Q8C3T3, Q9JKU7
      Related
      ENSMUSP00000036016.7, ENSMUST00000041588.13
      Conserved Domains (1) summary
      sd00044
      Location:501 → 530
      HEAT; HEAT repeat [structural motif]

    RNA

    1. NR_074085.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate 5' exon structure and lacks an internal exon, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC110253
      Related
      ENSMUST00000153440.8

    2. NR_188815.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC110253

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      140688222..140705134
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036165099.1 → XP_036020992.1  BRCA1-associated ATM activator 1 isoform X9

      Related
      ENSMUSP00000106429.2, ENSMUST00000110806.8

    2. XM_006504675.3 → XP_006504738.1  BRCA1-associated ATM activator 1 isoform X2

      Conserved Domains (1) summary
      sd00044
      Location:553 → 582
      HEAT; HEAT repeat [structural motif]

    3. XM_006504678.3 → XP_006504741.1  BRCA1-associated ATM activator 1 isoform X1

      Conserved Domains (1) summary
      sd00044
      Location:554 → 583
      HEAT; HEAT repeat [structural motif]

    4. XM_030254439.2 → XP_030110299.1  BRCA1-associated ATM activator 1 isoform X3

      Conserved Domains (1) summary
      sd00044
      Location:545 → 574
      HEAT; HEAT repeat [structural motif]

    5. XM_011240975.4 → XP_011239277.1  BRCA1-associated ATM activator 1 isoform X7

      Conserved Domains (1) summary
      sd00044
      Location:480 → 509
      HEAT; HEAT repeat [structural motif]

    6. XM_030254441.2 → XP_030110301.1  BRCA1-associated ATM activator 1 isoform X8

      Conserved Domains (1) summary
      sd00044
      Location:472 → 501
      HEAT; HEAT repeat [structural motif]

    7. XM_030254442.2 → XP_030110302.1  BRCA1-associated ATM activator 1 isoform X10

      Conserved Domains (2) summary
      sd00044
      Location:125 → 154
      HEAT; HEAT repeat [structural motif]
      pfam02985
      Location:125 → 154
      HEAT; HEAT repeat

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_172724.3: Suppressed sequence

      Description
      NM_172724.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C3R1.1 GenPept UniProtKB/Swiss-Prot:Q8C3R1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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