BRAT1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | BRAT1 |
| Official Name | BRCA1 associated ATM activator 1 [Source:HGNC Symbol;Acc:HGNC:21701] |
| Ensembl ID | ENSG00000106009 |
| Bio databases IDs | |
| Aliases | BRCA1 associated ATM activator 1, BRCA1-associated protein required for ATM activation protein 1 |
| Synonyms | BAAT1, Brat1-ps1, BRCA1-associated ATM activator 1, C7orf27, FLJ00053, NEDCAS, RGD1565146, RMFSL |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BRAT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ribonuclease inhibitor
- HEAT repeat
- protein binding
Pathways
Biological processes and signaling networks where the BRAT1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- lethal neonatal rigidity and multifocal seizure syndrome
- neurodevelopmental disorder with cerebellar atrophy and seizures
- neurodevelopmental disorder with cerebellar atrophy and with or without seizures
- hereditary disorder
- BRAT1-associated neurodegenerative disorder
role in cell
- apoptosis
- proliferation
- expression in
- growth
- differentiation
- binding in
- DNA damage response
- localization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BRAT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell proliferation
- positive regulation of cell growth
- positive regulation of protein phosphorylation
- apoptotic process
- response to DNA damage stimulus
- glucose metabolic process
- mitochondrion localization
- cell migration
- response to ionizing radiation
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding