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

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: human all
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Genomic context

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_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

MHAa64b8.seq (e-PCR)
- UniSTS:125251

GDB:182516 (e-PCR)
- UniSTS:155384

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

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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)

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

Status: REVIEWED

Source sequence(s)

AC110253

Related

ENSMUSP00000106429.2, ENSMUST00000110806.8
NM_001424646.1 → NP_001411575.1 BRCA1-associated ATM activator 1 isoform 5

Status: REVIEWED

Source sequence(s)

AC110253
NM_001424647.1 → NP_001411576.1 BRCA1-associated ATM activator 1 isoform 6

Status: REVIEWED

Source sequence(s)

AC110253
NM_001424648.1 → NP_001411577.1 BRCA1-associated ATM activator 1 isoform 7

Status: REVIEWED

Source sequence(s)

AC110253
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

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
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

NC_000071.7 Reference GRCm39 C57BL/6J

Range

140688222..140705134

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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.