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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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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

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