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Aliases for BRAT1 Gene

Aliases for BRAT1 Gene

  • BRCA1 Associated ATM Activator 1 2 3
  • BRCA1-Associated Protein Required For ATM Activation Protein 1 2 3 4
  • BRCA1-Associated ATM Activator 1 2 5
  • 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 lethal neonatal spasticity-epileptic encephalopathy syndrome. 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around BRAT1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for BRAT1 Gene at MOPED

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

Other Protein References for BRAT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BRAT1 Gene

Domains & Families for BRAT1 Gene

Protein Domains for BRAT1 Gene

InterPro:
ProtoNet:

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).
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for BRAT1 Gene COMPARTMENTS Subcellular localization image for BRAT1 gene
Compartment Confidence
nucleus 5
extracellular 2
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for BRAT1 Gene

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:0006915 apoptotic process IMP 25070371
GO:0008283 cell proliferation IMP 25070371
GO:0016049 cell growth IMP 25070371
GO:0051646 mitochondrion localization 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

Unigene Clusters for BRAT1 Gene

BRCA1-associated ATM activator 1:
Representative Sequences:

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 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, MOPED, and MaxQB for BRAT1 Gene



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

Protein tissue co-expression partners for BRAT1 Gene

- Elite partner

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
cow
(Bos Taurus)
Mammalia BRAT1 35
  • 79.53 (n)
  • 73.61 (a)
BRAT1 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BRAT1 35
  • 80.27 (n)
  • 76.74 (a)
BRAT1 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Brat1 35
  • 77.67 (n)
  • 73.69 (a)
Brat1 16
Brat1 36
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BRAT1 35
  • 98.9 (n)
  • 98.9 (a)
BRAT1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Brat1 35
  • 78.35 (n)
  • 74.51 (a)
oppossum
(Monodelphis domestica)
Mammalia BRAT1 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BRAT1 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves BRAT1 35
  • 55.88 (n)
  • 49.32 (a)
BRAT1 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BRAT1 36
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia brat1 35
  • 49.29 (n)
  • 42.72 (a)
zebrafish
(Danio rerio)
Actinopterygii brat1 35
  • 47.2 (n)
  • 37.55 (a)
brat1 36
  • 34 (a)
OneToOne
Species with no ortholog for BRAT1:
  • 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
rs17856488 - 2,554,374(+) CTGCC(A/C/T)GGGAT reference, missense, utr-variant-5-prime
rs60152725 - 2,538,326(+) CTCCC(A/G)CAGGC downstream-variant-500B, reference, missense
rs1043291 -- 2,538,147(-) GTGGA(A/G)AAGAG downstream-variant-500B, reference, synonymous-codon
rs1043294 -- 2,538,057(-) CCAGA(C/G)TCTGC utr-variant-3-prime
rs1043297 -- 2,538,011(-) TCCTT(C/T)TGTGG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv7116n71 CNV Loss 21882294
dgv7117n71 CNV Loss 21882294
dgv7118n71 CNV Loss 21882294
dgv7119n71 CNV Loss 21882294
nsv830887 CNV Loss 17160897
nsv823981 CNV Gain 20364138
dgv7120n71 CNV Loss 21882294
nsv887297 CNV Loss 21882294
nsv887298 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
BRAT1
Human Gene Mutation Database (HGMD)
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

Disorder Aliases PubMed IDs
rigidity and multifocal seizure syndrome, lethal neonatal
  • rmfsl
lethal neonatal spasticity-epileptic encephalopathy syndrome
  • lethal neonatal rigidity-multifocal seizure syndrome
ohtahara syndrome
  • epileptic encephalopathy, early infantile, 15
- 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 67
  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
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for BRAT1 Gene

Sources for BRAT1 Gene

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