Human Gene BRAT1 (uc003smi.3) Description and Page Index
  Description: Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.
RefSeq Summary (NM_152743): 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].
Transcript (Including UTRs)
   Position: hg19 chr7:2,577,444-2,595,392 Size: 17,949 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr7:2,577,703-2,594,065 Size: 16,363 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr7:2,577,444-2,595,392)mRNA (may differ from genome)Protein (821 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
OMIMPubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=BRCA1-associated ATM activator 1; AltName: Full=BRCA1-associated protein required for ATM activation protein 1;
FUNCTION: Required for activation of ATM following ionizing radiation. May act by regulating dephosphorylation of ATM.
SUBUNIT: Interacts with BRCA1 and ATM.
SUBCELLULAR LOCATION: Nucleus. Note=Present at double strand breaks (DSBs) following ionizing radiation treatment.
TISSUE SPECIFICITY: Ubiquitously expressed.
DISEASE: Defects in BRAT1 are the cause of 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.
SIMILARITY: Contains 2 HEAT repeats.
SEQUENCE CAUTION: Sequence=BAB15772.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  MalaCards Disease Associations
  MalaCards Gene Search: BRAT1
Diseases sorted by gene-association score: rigidity and multifocal seizure syndrome, lethal neonatal* (1369), epileptic encephalopathy, early infantile, 15 (3), microcephaly (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 41.83 RPKM in Testis
Total median expression: 904.40 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -137.80288-0.478 Picture PostScript Text
3' UTR -78.87259-0.305 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR000357 - HEAT

Pfam Domains:
PF02985 - HEAT repeat

SCOP Domains:
48371 - ARM repeat

ModBase Predicted Comparative 3D Structure on Q6PJG6
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserNo orthologNo ortholog
   Gene Details  
   Gene Sorter  
  Protein SequenceProtein Sequence  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0001934 positive regulation of protein phosphorylation
GO:0006006 glucose metabolic process
GO:0006915 apoptotic process
GO:0006974 cellular response to DNA damage stimulus
GO:0008283 cell proliferation
GO:0010212 response to ionizing radiation
GO:0016477 cell migration
GO:0030307 positive regulation of cell growth
GO:0051646 mitochondrion localization

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0016020 membrane

-  Descriptions from all associated GenBank mRNAs
  LF384065 - JP 2014500723-A/191568: Polycomb-Associated Non-Coding RNAs.
BC023561 - Homo sapiens chromosome 7 open reading frame 27, mRNA (cDNA clone IMAGE:4025532), partial cds.
BC007209 - Homo sapiens chromosome 7 open reading frame 27, mRNA (cDNA clone IMAGE:2905978), partial cds.
BC040704 - Homo sapiens chromosome 7 open reading frame 27, mRNA (cDNA clone IMAGE:5740490), complete cds.
AL133088 - Homo sapiens mRNA; cDNA DKFZp434D0428 (from clone DKFZp434D0428).
BC015632 - Homo sapiens chromosome 7 open reading frame 27, mRNA (cDNA clone MGC:22916 IMAGE:3839985), complete cds.
AK024461 - Homo sapiens mRNA for FLJ00053 protein, partial cds.
AK131097 - Homo sapiens mRNA for FLJ00321 protein.
AK024482 - Homo sapiens mRNA for FLJ00076 protein, partial cds.
AK131083 - Homo sapiens mRNA for FLJ00283 protein.
JD450356 - Sequence 431380 from Patent EP1572962.
JD383456 - Sequence 364480 from Patent EP1572962.
JD316242 - Sequence 297266 from Patent EP1572962.
JD382676 - Sequence 363700 from Patent EP1572962.
AK311144 - Homo sapiens cDNA, FLJ18186.
JD026714 - Sequence 7738 from Patent EP1572962.
JD033664 - Sequence 14688 from Patent EP1572962.
DQ587276 - Homo sapiens piRNA piR-54388, complete sequence.
JD372461 - Sequence 353485 from Patent EP1572962.
JD400848 - Sequence 381872 from Patent EP1572962.
MA619642 - JP 2018138019-A/191568: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A4D200, BAAT1, BRAT1_HUMAN, C7orf27, C9JY24, NM_152743, NP_689956, Q6PJG6, Q8IW85, Q8IZ43, Q8WVR8, Q96IV9, Q9H7J8, Q9UFA3
UCSC ID: uc003smi.3
RefSeq Accession: NM_152743
Protein: Q6PJG6 (aka BRAT1_HUMAN)
CCDS: CCDS5334.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_152743.3
exon count: 14CDS single in 3' UTR: no RNA size: 3013
ORF size: 2466CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4992.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.