ID:BRAT1_HUMAN 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;
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.
ModBase Predicted Comparative 3D Structure on Q6PJG6
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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.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
