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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
  • C7orf27 3 4 6
  • BAAT1 3 4 6
  • RMFSL 3 6
  • HEAT Repeat-Containing Protein C7orf27 3
  • Chromosome 7 Open Reading Frame 27 2

External Ids for BRAT1 Gene

Previous 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 breast cancer.

UniProtKB/Swiss-Prot for BRAT1 Gene

  • Required for activation of ATM following ionizing radiation. May act by regulating dephosphorylation of ATM.

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

Genomic Location for BRAT1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BRAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BRAT1 Gene

No data available for Regulatory Elements 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.
    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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys31, Lys197, Lys213, Lys304, Lys329, Lys358, Lys507, and Lys729

Other Protein References for BRAT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BRAT1 Gene

Domains for BRAT1 Gene

Protein Domains for BRAT1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

BRAT1_HUMAN
Similarity:
  • Contains 2 HEAT repeats.:
    • Q6PJG6
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: Required for activation of ATM following ionizing radiation. May act by regulating dephosphorylation of ATM.

Gene Ontology (GO) - Molecular Function for BRAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0005515 protein binding IPI 16452482
genes like me logo Genes that share ontologies with BRAT1: view

Phenotypes for BRAT1 Gene

GenomeRNAi human phenotypes for BRAT1:
genes like me logo Genes that share phenotypes with BRAT1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for BRAT1 Gene

Localization for BRAT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BRAT1 Gene

Nucleus. Note=Present at double strand breaks (DSBs) following ionizing radiation treatment.

Gene Ontology (GO) - Cellular Components for BRAT1 Gene

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

Pathways 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:0010212 response to ionizing radiation IMP 16452482
genes like me logo Genes that share ontologies with BRAT1: view

No data available for Pathways by source for BRAT1 Gene

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

Integrated Proteomics: protein expression 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 expressions with BRAT1: view

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 36
  • 98.9 (n)
  • 98.9 (a)
BRAT1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BRAT1 36
  • 79.53 (n)
  • 73.61 (a)
BRAT1 37
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BRAT1 36
  • 80.27 (n)
  • 76.74 (a)
BRAT1 37
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Brat1 36
  • 77.67 (n)
  • 73.69 (a)
Brat1 16
Brat1 37
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BRAT1 37
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BRAT1 37
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Brat1 36
  • 78.35 (n)
  • 74.51 (a)
chicken
(Gallus gallus)
Aves BRAT1 36
  • 55.88 (n)
  • 49.32 (a)
BRAT1 37
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BRAT1 37
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia brat1 36
  • 49.29 (n)
  • 42.72 (a)
zebrafish
(Danio rerio)
Actinopterygii brat1 36
  • 47.2 (n)
  • 37.55 (a)
brat1 37
  • 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

Selected 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 MAF
rs733137 -- 2,546,782(-) ttttt(A/T)aaaaa intron-variant
rs1043291 -- 2,538,147(-) GTGGA(A/G)AAGAG 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
rs1043299 -- 2,537,918(-) ATCCC(A/C)CAGTT 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

Relevant External Links for BRAT1 Gene

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

Disorders for BRAT1 Gene

(1) OMIM Diseases for BRAT1 Gene (614506)

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.
genes like me logo Genes that share disorders with BRAT1: view

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
  2. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  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

Products for BRAT1 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate BRAT1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for BRAT1
    • Block miRNA regulation of BRAT1 using miScript Target Protectors

    Sources for BRAT1 Gene

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