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
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.