Aliases for BRAT1 Gene
Aliases for BRAT1 Gene
External Ids for BRAT1 Gene
- HGNC: 21701
- Entrez Gene: 221927
- Ensembl: ENSG00000106009
- OMIM: 614506
- UniProtKB: Q6PJG6
Previous HGNC Symbols for BRAT1 Gene
- C7orf27
- BAAT1
Summaries 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 Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal and Epileptic Encephalopathy, Early Infantile, 15. Gene Ontology (GO) annotations related to this gene include binding.
UniProtKB/Swiss-Prot for BRAT1 Gene
-
Involved in DNA damage response; activates kinases ATM, SMC1A and PRKDC by modulating their phosphorylation status following ionizing radiation (IR) stress (PubMed:16452482, PubMed:22977523). Plays a role in regulating mitochondrial function and cell proliferation (PubMed:25070371). Required for protein stability of MTOR and MTOR-related proteins, and cell cycle progress by growth factors (PubMed:25657994).
Additional gene information for BRAT1 Gene
- Monarch Initiative
- Search for BRAT1 at DataMed
- Search for BRAT1 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BRAT1 Gene
Genomics for BRAT1 Gene
GeneHancer (GH) Regulatory Elements for BRAT1 Gene
Regulatory Element Products
Genomic Locations for BRAT1 Gene
- chr7:2,537,810-2,555,758
- (GRCh38/hg38)
- Size:
- 17,949 bases
- Orientation:
- Minus strand
- chr7:2,577,444-2,595,392
- (GRCh37/hg19)
Genomic View for BRAT1 Gene
- Cytogenetic band:
-
- 7p22.3 by Ensembl
- 7p22.3 by Entrez Gene
- 7p22.3 by HGNC


RefSeq DNA sequence for BRAT1 Gene
Proteins for BRAT1 Gene
-
Protein details for BRAT1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6PJG6-BRAT1_HUMAN
- Recommended name:
- BRCA1-associated ATM activator 1
- Protein Accession:
- Q6PJG6
- A4D200
- C9JY24
- Q8IW85
- Q8IZ43
- Q8WVR8
- Q96IV9
- Q9H7J8
- Q9UFA3
Protein attributes for BRAT1 Gene
- Size:
- 821 amino acids
- Molecular mass:
- 88119 Da
- Quaternary structure:
-
- Interacts with BRCA1 and ATM. Interacts with MTOR and RPTOR. Interacts with NDFIP1. Interacts with SMC1A and PRKDC.
- SequenceCaution:
-
- Sequence=BAB15772.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for BRAT1 Gene
Post-translational modifications for BRAT1 Gene
- Ubiquitinated by NEDD4, NEDD4L and ITCH; mono- and polyubiquitinated forms are detected.
- Ubiquitination at posLast=3131, posLast=197197, Lys213, Lys304, Lys329, Lys358, posLast=507507, and Lys729
Other Protein References for BRAT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Abcam proteins for BRAT1
Assay Products
No data available for DME Specific Peptides for BRAT1 Gene
Domains & Families for BRAT1 Gene
Gene Families for BRAT1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for BRAT1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for BRAT1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for BRAT1 Gene
Function for BRAT1 Gene
Molecular function for BRAT1 Gene
- UniProtKB/Swiss-Prot Function:
- Involved in DNA damage response; activates kinases ATM, SMC1A and PRKDC by modulating their phosphorylation status following ionizing radiation (IR) stress (PubMed:16452482, PubMed:22977523). Plays a role in regulating mitochondrial function and cell proliferation (PubMed:25070371). Required for protein stability of MTOR and MTOR-related proteins, and cell cycle progress by growth factors (PubMed:25657994).
Phenotypes From GWAS Catalog for BRAT1 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16452482 |
Phenotypes for BRAT1 Gene
- GenomeRNAi human phenotypes for BRAT1:
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miRNA for BRAT1 Gene
- miRTarBase miRNAs that target BRAT1
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No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for BRAT1 Gene
Localization for BRAT1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BRAT1 Gene
- Nucleus. Cytoplasm. Note=Present at double strand breaks (DSBs)following ionizing radiation treatment. The ubiquitinated form localizes in the nucleus in a NDFIP1-dependent manner. {ECO:0000269 PubMed:16452482, ECO:0000269 PubMed:25631046}.
- Nucleoplasm (3)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IDA,IEA | 16452482 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IDA,IEA | 25631046 |
GO:0016020 | membrane | IDA,HDA | 19946888 |
Pathways & Interactions for BRAT1 Gene
Interacting Proteins for BRAT1 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001934 | positive regulation of protein phosphorylation | IMP | 22977523 |
GO:0006006 | glucose metabolic process | IMP | 25070371 |
GO:0006915 | apoptotic process | IMP | 25070371 |
GO:0006974 | cellular response to DNA damage stimulus | IMP | 25631046 |
GO:0008283 | cell proliferation | IMP | 25070371 |
No data available for Pathways by source and SIGNOR curated interactions for BRAT1 Gene
Transcripts for BRAT1 Gene
mRNA/cDNA for BRAT1 Gene
- (16) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (208) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for BRAT1 Gene
CRISPR Products
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-
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-
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for BRAT1
- Applied Biological Materials Clones for BRAT1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 | ^ |
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SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
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SP4: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
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SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
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SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - |
ExUns: | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b |
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SP1: | |||||||||
SP2: | |||||||||
SP3: | |||||||||
SP4: | |||||||||
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SP6: | - | ||||||||
SP7: | |||||||||
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SP10: | |||||||||
SP11: | |||||||||
SP12: | |||||||||
SP13: |
Expression for BRAT1 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BRAT1 Gene
NURSA nuclear receptor signaling pathways regulating expression of BRAT1 Gene:
BRAT1SOURCE GeneReport for Unigene cluster for BRAT1 Gene:
Hs.520623mRNA Expression by UniProt/SwissProt for BRAT1 Gene:
Q6PJG6-BRAT1_HUMANEvidence on tissue expression from TISSUES for BRAT1 Gene
- Skin(4.3)
- Intestine(4.2)
- Spleen(4.2)
- Nervous system(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for BRAT1 Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- nervous
- respiratory
- skeletal muscle
- skeleton
- brain
- ear
- head
- skull
- heart
- heart valve
- lung
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
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OriGene qPCR primer pairs for BRAT1
-
OriGene qPCR primer pairs and template standards for BRAT1
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No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for BRAT1 Gene
Orthologs for BRAT1 Gene
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | BRAT1 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | BRAT1 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | BRAT1 33 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Brat1 33 |
|
||
mouse (Mus musculus) |
Mammalia | Brat1 33 16 34 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | BRAT1 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | BRAT1 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | BRAT1 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | BRAT1 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | brat1 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | brat1 33 34 |
|
- Species where no ortholog for BRAT1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for BRAT1 Gene
(3) SIMAP similar genes for BRAT1 Gene using alignment to 2 proteins:
No data available for Paralogs for BRAT1 Gene
Variants for BRAT1 Gene
SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs112658000 | uncertain-significance, Rigidity and multifocal seizure syndrome, lethal neonatal | 2,541,806(-) | G/A/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs113030000 | likely-benign, Rigidity and multifocal seizure syndrome, lethal neonatal | 2,538,613(-) | G/A/C | 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs113613637 | likely-benign, benign, not provided, Rigidity and multifocal seizure syndrome, lethal neonatal | 2,541,492(-) | G/A/T | intron_variant | |
rs138585448 | likely-benign, Rigidity and multifocal seizure syndrome, lethal neonatal | 2,544,978(-) | T/G | 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
rs139443843 | benign, not specified, Rigidity and multifocal seizure syndrome, lethal neonatal | 2,543,718(-) | G/A | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant |
Additional Variant Information for BRAT1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BRAT1 Gene
Disorders for BRAT1 Gene

(2) MalaCards diseases for BRAT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
rigidity and multifocal seizure syndrome, lethal neonatal |
|
|
epileptic encephalopathy, early infantile, 15 |
|
|
UniProtKB/Swiss-Prot
BRAT1_HUMAN- 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. {ECO:0000269 PubMed:22279524}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for BRAT1
No data available for Genatlas for BRAT1 Gene
Publications for BRAT1 Gene
- ATM activation by ionizing radiation requires BRCA1-associated BAAT1. (PMID: 16452482) Aglipay JA … Ouchi T (The Journal of biological chemistry 2006) 2 3 4 58
- 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. (PMID: 25631046) Low LH … Tan SS (The Journal of biological chemistry 2015) 3 4 58
- BRAT1 deficiency causes increased glucose metabolism and mitochondrial malfunction. (PMID: 25070371) So EY … Ouchi T (BMC cancer 2014) 3 4 58
- The Potential Role of BRCA1-Associated ATM Activator-1 (BRAT1) in Regulation of mTOR. (PMID: 25657994) So EY … Ouchi T (Journal of cancer biology & research 2013) 3 4 58
- Genetic mapping and exome sequencing identify variants associated with five novel diseases. (PMID: 22279524) Puffenberger EG … Strauss KA (PloS one 2012) 3 4 58
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for BRAT1
- antibodies-online: Search results for 13 available BAAT1 Antibodies ranked by validation data
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Sources for BRAT1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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