Version 5.4
Homo sapiens Protein: BRAT1
Summary
InnateDB Protein IDBP-7011.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BRAT1
Protein Name BRCA1-associated ATM activator 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000339637
InnateDB Gene IDBG-7009 (BRAT1)
Protein Structure
UniProt Annotation
Function Required for activation of ATM following ionizing radiation. May act by regulating dephosphorylation of ATM. {ECO:0000269PubMed:16452482}.
Subcellular Localization Nucleus {ECO:0000269PubMed:16452482}. Note=Present at double strand breaks (DSBs) following ionizing radiation treatment.
Disease Associations 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:0000269PubMed:22279524}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Ubiquitously expressed. {ECO:0000269PubMed:16452482}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005488 binding
GO:0005515 protein binding
Biological Process
GO:0010212 response to ionizing radiation
Cellular Component
GO:0005634 nucleus
GO:0016020 membrane
Protein Structure and Domains
PDB ID
InterPro IPR000357 HEAT
IPR016024 Armadillo-type fold
PFAM PF02985
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q6PJG6
PhosphoSite PhosphoSite-Q6PJG6
TrEMBL
UniProt Splice Variant
Entrez Gene 221927
UniGene Hs.520623
RefSeq NP_689956
HUGO HGNC:21701
OMIM 614506
CCDS CCDS5334
HPRD 12914
IMGT
EMBL AC092488 AK024482 AL133088 BC007209 BC015632 BC023561 BC040704 CH236953 CH471144
GenPept AAH07209 AAH15632 AAH23561 AAH40704 BAB15772 CAB61405 EAL23957 EAW87257 EAW87258

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca