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... See more...

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 4
  • C7orf27 3 4
  • BAAT1 3 4
  • HEAT Repeat-Containing Protein C7orf27 3
  • Chromosome 7 Open Reading Frame 27 2
  • NEDCAS 3
  • RMFSL 3

External Ids for BRAT1 Gene

Previous HGNC Symbols for BRAT1 Gene

  • C7orf27
  • BAAT1

Previous GeneCards Identifiers for BRAT1 Gene

  • GC07M002577
  • GC07M002552

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 Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures. Gene Ontology (GO) annotations related to this gene include binding.

UniProtKB/Swiss-Prot Summary 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

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BRAT1 Gene

Genomics for BRAT1 Gene

GeneHancer (GH) Regulatory Elements for BRAT1 Gene

Promoters and enhancers for BRAT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J002553 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 529 -1.5 -1530 6.7 FOXK2 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 POLR2G SP1 BCLAF1 BRAT1 IQCE piR-38580-297
GH07J002756 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 27.6 -204.8 -204835 8.7 ZNF217 CTCF NRF1 TCF12 SP1 JUND FOS ZNF639 ZNF10 EP300 CHST12 GNA12 BRAT1 EIF3B AMZ1 LFNG TTYH3 SNX8 lnc-AMZ1-1 piR-47211-583
GH07J002862 Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 25.4 -308.1 -308099 2.9 ZBTB40 ZNF217 CTCF POLR2G SP1 JUND FOS EP300 POLR2A ZBTB10 lnc-GNA12-5 BRAT1 GNA12 EIF3B LFNG CHST12 MRM2 TTYH3 RF00017-5975
GH07J002626 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.6 -78.9 -78867 16.7 EP300 NRF1 POLR2G USF1 SP1 NCOR1 JUND TEAD4 FOS ZIC2 TTYH3 LFNG AMZ1 BRAT1 IQCE SNX8 piR-32287-085
GH07J002515 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 +32.3 32330 16.2 ZNF217 NRF1 TCF12 POLR2G USF1 SP1 JUND FOS ZFX ZIC2 LFNG BRAT1 IQCE MIR4648 HSALNG0055729
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BRAT1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BRAT1

Genomic Locations for BRAT1 Gene

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)
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=Extended N-terminus.; 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 Lys31, Lys197, Lys729, Lys213, Lys304, Lys329, Lys358, and Lys507
  • Modification sites at PhosphoSitePlus

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:
  • BRCA1-associated protein required for ATM activation protein 1 (BRAT1_HUMAN)
genes like me logo Genes that share domains with BRAT1: view

No data available for Graphical View of Domain Structure and 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

Gene Ontology (GO) - Molecular Function for BRAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,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

CRISPR Products

Clone Products

  • Addgene plasmids for BRAT1

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
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1
peroxisome 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BRAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 16452482
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 25631046
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with BRAT1: view

Pathways & Interactions for BRAT1 Gene

PathCards logo

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 IEA,IMP 25631046
GO:0008283 cell proliferation IEA,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

Drugs & Compounds for BRAT1 Gene

No Compound Related Data Available

Transcripts for BRAT1 Gene

mRNA/cDNA for BRAT1 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for BRAT1

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

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, MaxQB, and MOPED for BRAT1 Gene



Protein tissue co-expression partners for BRAT1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence 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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • head
  • skull
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with BRAT1: view

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 31 30
  • 98.9 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BRAT1 31 30
  • 80.27 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BRAT1 31 30
  • 79.53 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Brat1 30
  • 78.35 (n)
mouse
(Mus musculus)
Mammalia Brat1 17 31 30
  • 77.67 (n)
oppossum
(Monodelphis domestica)
Mammalia BRAT1 31
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BRAT1 31
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves BRAT1 31 30
  • 55.88 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BRAT1 31
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia brat1 30
  • 49.29 (n)
zebrafish
(Danio rerio)
Actinopterygii brat1 31 30
  • 47.2 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for BRAT1: view image

Paralogs for BRAT1 Gene

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

  • BRAT1_HUMAN
  • F8WDN5_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BRAT1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
639508 Uncertain Significance: Rigidity and multifocal seizure syndrome, lethal neonatal 2,540,993(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
640308 Uncertain Significance: Rigidity and multifocal seizure syndrome, lethal neonatal 2,541,300(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
641039 Uncertain Significance: Rigidity and multifocal seizure syndrome, lethal neonatal 2,538,184(-) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
641130 Uncertain Significance: Rigidity and multifocal seizure syndrome, lethal neonatal 2,543,677(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
641304 Uncertain Significance: Rigidity and multifocal seizure syndrome, lethal neonatal 2,538,649(-) TG/AA MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for BRAT1 Gene

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)

Additional Variant Information for BRAT1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for BRAT1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for BRAT1 Gene - From: OMIM, ClinVar, GTR, 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, ECO:0000269 PubMed:27282546}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS) [MIM:618056]: An autosomal recessive disorder characterized by psychomotor developmental delay manifesting in infancy, cerebellar atrophy, decreased myelination, and seizures in most patients. Additional features include intellectual disability, ataxia or dyspraxia, hypertonia, hyperreflexia, poor or absent speech, microcephaly, subtle dysmorphisms, and visual impairment in some patients. {ECO:0000269 PubMed:26483087, ECO:0000269 PubMed:26494257, ECO:0000269 PubMed:27282546}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for 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 JA … Ouchi T (The Journal of biological chemistry 2006) 2 3 4 54
  2. BRAT1 mutations present with a spectrum of clinical severity. (PMID: 27282546) Srivastava S … Naidu S (American journal of medical genetics. Part A 2016) 3 4 54
  3. 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 54
  4. BRAT1 deficiency causes increased glucose metabolism and mitochondrial malfunction. (PMID: 25070371) So EY … Ouchi T (BMC cancer 2014) 3 4 54
  5. 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 54

Products for BRAT1 Gene

Sources for BRAT1 Gene