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Aliases for BRAT1 Gene

Aliases for BRAT1 Gene

  • BRCA1 Associated ATM Activator 1 2 3 5
  • BRCA1-Associated Protein Required For ATM Activation Protein 1 2 3 4
  • BRCA1-Associated ATM Activator 1 2 3
  • C7orf27 3 4
  • BAAT1 3 4
  • HEAT Repeat-Containing Protein C7orf27 3
  • Chromosome 7 Open Reading Frame 27 2
  • RMFSL 3

External Ids for BRAT1 Gene

Previous HGNC Symbols for BRAT1 Gene

  • C7orf27
  • BAAT1

Summaries for BRAT1 Gene

Entrez Gene Summary 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 Hypertonia. 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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BRAT1 Gene

Genomics for BRAT1 Gene

Regulatory Elements for BRAT1 Gene

Enhancers for BRAT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F002626 1.8 FANTOM5 Ensembl ENCODE 11.5 -81.1 -81051 21.1 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 TTYH3 LFNG AMZ1 CHST12 BRAT1 IQCE SNX8
GH07F002520 1.7 FANTOM5 Ensembl ENCODE 11.2 +29.0 28982 13.2 HDGF PKNOX1 ARID4B SIN3A ZNF143 ZNF548 FOS ZNF263 SP5 ZHX2 LFNG CHST12 BRAT1 IQCE MIR4648
GH07F002619 1.6 FANTOM5 Ensembl ENCODE 11.8 -67.0 -66987 5.8 MLX ARID4B DMAP1 ZNF48 YY1 SLC30A9 GTF3C2 FOS ZNF263 PAF1 TTYH3 AMZ1 IQCE BRAT1 GC07P002574
GH07F002606 1.4 FANTOM5 Ensembl ENCODE 11.8 -52.7 -52724 3.8 CTCF KLF1 ARID4B PLRG1 ZIC2 RAD21 GLIS2 POLR2A SMC3 NR2F6 TTYH3 AMZ1 CHST12 BRAT1 IQCE LFNG SNX8 GC07P002574
GH07F002616 1.4 FANTOM5 Ensembl ENCODE 10.8 -62.2 -62213 3.3 TSC22D4 YBX1 ZIC2 ZKSCAN1 ZNF121 HIC1 ZFHX2 CTBP1 POLR2A ZNF207 AMZ1 BRAT1 TTYH3 IQCE GC07P002574
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BRAT1 on UCSC Golden Path with GeneCards custom track

Promoters for BRAT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001556901 258 1801 HDGF ARID4B SIN3A BRCA1 ZNF121 SLC30A9 GTF3C2 GLIS2 ELK1 ZNF143

Genomic Location for BRAT1 Gene

Chromosome:
7
Start:
2,537,810 bp from pter
End:
2,555,758 bp from pter
Size:
17,949 bases
Orientation:
Minus strand

Genomic View for BRAT1 Gene

Genes around BRAT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BRAT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BRAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

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
    Secondary Accessions:
    • 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};

    Three dimensional structures from OCA and Proteopedia for BRAT1 Gene

    Alternative splice isoforms for BRAT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BRAT1 Gene

Post-translational modifications for BRAT1 Gene

  • Ubiquitinated by NEDD4, NEDD4L and ITCH; mono- and polyubiquitinated forms are detected.
  • Ubiquitination at Lys 31, Lys 197, Lys 213, Lys 304, Lys 329, Lys 358, Lys 507, and Lys 729
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BRAT1 Gene

Domains & Families for BRAT1 Gene

Protein Domains for BRAT1 Gene

Suggested Antigen Peptide Sequences for BRAT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q6PJG6

UniProtKB/Swiss-Prot:

BRAT1_HUMAN :
  • Contains 2 HEAT repeats.
Similarity:
  • Contains 2 HEAT repeats.
genes like me logo Genes that share domains with BRAT1: view

No data available for Gene Families 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).

Gene Ontology (GO) - Molecular Function for BRAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16452482
genes like me logo Genes that share ontologies with BRAT1: view
genes like me logo Genes that share phenotypes with BRAT1: view

Human Phenotype Ontology for BRAT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BRAT1 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BRAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 16452482
GO:0005737 cytoplasm IEA,IDA 25631046
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with BRAT1: view

Pathways & Interactions for BRAT1 Gene

SuperPathways for BRAT1 Gene

No Data Available

Gene Ontology (GO) - Biological Process 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
genes like me logo Genes that share ontologies with BRAT1: view

No data available for Pathways by source and SIGNOR curated interactions for BRAT1 Gene

Transcripts for BRAT1 Gene

Unigene Clusters for BRAT1 Gene

BRCA1-associated ATM activator 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BRAT1 Gene

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 ^
SP1: - - - - -
SP2: - - - -
SP3: -
SP4: - - - -
SP5: -
SP6:
SP7: - -
SP8: -
SP9: -
SP10: -
SP11: - - -
SP12: - -
SP13: - - -

ExUns: 15 ^ 16 ^ 17 ^ 18a · 18b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for BRAT1 Gene

GeneLoc Exon Structure for
BRAT1
ECgene alternative splicing isoforms for
BRAT1

Expression for BRAT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BRAT1 Gene

Protein differential expression in normal tissues from HIPED for BRAT1 Gene

This gene is overexpressed in Bone (57.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BRAT1 Gene



Protein tissue co-expression partners for BRAT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BRAT1 Gene:

BRAT1

SOURCE GeneReport for Unigene cluster for BRAT1 Gene:

Hs.520623

mRNA Expression by UniProt/SwissProt for BRAT1 Gene:

Q6PJG6-BRAT1_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with BRAT1: view

Primer Products

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.

Orthologs for BRAT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BRAT1 34 35
  • 98.9 (n)
dog
(Canis familiaris)
Mammalia BRAT1 34 35
  • 80.27 (n)
cow
(Bos Taurus)
Mammalia BRAT1 34 35
  • 79.53 (n)
rat
(Rattus norvegicus)
Mammalia Brat1 34
  • 78.35 (n)
mouse
(Mus musculus)
Mammalia Brat1 34 16 35
  • 77.67 (n)
oppossum
(Monodelphis domestica)
Mammalia BRAT1 35
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BRAT1 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves BRAT1 34 35
  • 55.88 (n)
lizard
(Anolis carolinensis)
Reptilia BRAT1 35
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia brat1 34
  • 49.29 (n)
zebrafish
(Danio rerio)
Actinopterygii brat1 34 35
  • 47.2 (n)
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)

Evolution for BRAT1 Gene

ENSEMBL:
Gene Tree for BRAT1 (if available)
TreeFam:
Gene Tree for BRAT1 (if available)

Paralogs for BRAT1 Gene

(3) SIMAP similar genes for BRAT1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with BRAT1: view

No data available for Paralogs for BRAT1 Gene

Variants for BRAT1 Gene

Sequence variations from dbSNP and Humsavar for BRAT1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs727505362 Pathogenic 2,543,939(-) TCTCC(-/ATCTTCTC/GAGAAGAT)CTGCA nc-transcript-variant, reference, frameshift-variant, utr-variant-5-prime
rs727505363 Pathogenic 2,547,430(-) GCTGC(C/T)GTCCC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs727505364 Pathogenic 2,542,172(-) CCTTC(-/TC)CAGCC nc-transcript-variant, reference, frameshift-variant
rs727505365 Pathogenic 2,541,442(-) TGGGG(-/G)CTACA nc-transcript-variant, reference, frameshift-variant
rs730880324 Pathogenic 2,543,754(-) CCCAA(-/A)GGTCA nc-transcript-variant, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for BRAT1 Gene

Variant ID Type Subtype PubMed ID
nsv1026756 CNV loss 25217958
nsv605861 CNV loss 21841781
nsv605862 CNV loss 21841781
nsv823981 CNV gain 20364138
nsv830887 CNV loss 17160897
nsv950792 CNV deletion 24416366

Variation tolerance for BRAT1 Gene

Residual Variation Intolerance Score: 91.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.11; 84.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BRAT1 Gene

Human Gene Mutation Database (HGMD)
BRAT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BRAT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BRAT1 Gene

Disorders for BRAT1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for BRAT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search BRAT1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for BRAT1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BRAT1
genes like me logo Genes that share disorders with BRAT1: view

No data available for Genatlas for BRAT1 Gene

Publications for BRAT1 Gene

  1. ATM activation by ionizing radiation requires BRCA1-associated BAAT1. (PMID: 16452482) Aglipay J.A. … Ouchi T. (J. Biol. Chem. 2006) 2 3 4 64
  2. 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 L.H. … Tan S.S. (J. Biol. Chem. 2015) 3 4 64
  3. BRAT1 deficiency causes increased glucose metabolism and mitochondrial malfunction. (PMID: 25070371) So E.Y. … Ouchi T. (BMC Cancer 2014) 3 4 64
  4. The potential role of BRCA1-associated ATM activator-1 (BRAT1) in regulation of mTOR. (PMID: 25657994) So E.Y. … Ouchi T. (J. Cancer. Biol. Res. 2013) 3 4 64
  5. Genetic mapping and exome sequencing identify variants associated with five novel diseases. (PMID: 22279524) Puffenberger E.G. … Strauss K.A. (PLoS ONE 2012) 3 4 64

Products for BRAT1 Gene

Sources for BRAT1 Gene

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