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

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

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    Variation

    Alleles

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

    General gene information

    Markers

    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 DNA damage response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glucose metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in glucose metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mitochondrion localization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mitochondrion localization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell growth ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of protein phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to ionizing radiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to ionizing radiation ISS
    Inferred from Sequence or Structural Similarity
    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
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001276287.1NP_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:546575
      HEAT; HEAT repeat [structural motif]
    2. NM_001424644.1NP_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_001424645.1NP_001411574.1  BRCA1-associated ATM activator 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC110253
      UniProtKB/TrEMBL
      Q8C919
      Related
      ENSMUSP00000106429.2, ENSMUST00000110806.8
    4. NM_001424646.1NP_001411575.1  BRCA1-associated ATM activator 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC110253
    5. NM_001424647.1NP_001411576.1  BRCA1-associated ATM activator 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC110253
    6. NM_001424648.1NP_001411577.1  BRCA1-associated ATM activator 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC110253
    7. NM_181066.4NP_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:501530
      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_036165099.1XP_036020992.1  BRCA1-associated ATM activator 1 isoform X9

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

      Conserved Domains (1) summary
      sd00044
      Location:553582
      HEAT; HEAT repeat [structural motif]
    3. XM_006504678.3XP_006504741.1  BRCA1-associated ATM activator 1 isoform X1

      Conserved Domains (1) summary
      sd00044
      Location:554583
      HEAT; HEAT repeat [structural motif]
    4. XM_030254439.2XP_030110299.1  BRCA1-associated ATM activator 1 isoform X3

      Conserved Domains (1) summary
      sd00044
      Location:545574
      HEAT; HEAT repeat [structural motif]
    5. XM_011240975.4XP_011239277.1  BRCA1-associated ATM activator 1 isoform X7

      Conserved Domains (1) summary
      sd00044
      Location:480509
      HEAT; HEAT repeat [structural motif]
    6. XM_030254441.2XP_030110301.1  BRCA1-associated ATM activator 1 isoform X8

      Conserved Domains (1) summary
      sd00044
      Location:472501
      HEAT; HEAT repeat [structural motif]
    7. XM_030254442.2XP_030110302.1  BRCA1-associated ATM activator 1 isoform X10

      Conserved Domains (2) summary
      sd00044
      Location:125154
      HEAT; HEAT repeat [structural motif]
      pfam02985
      Location:125154
      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.