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FLASH GENE
Symbol BRAT1 contributors: mct - updated : 13-06-2023
HGNC name BRCA1 associated ATM activator 1
HGNC id 21701
Corresponding disease
EIMFS epilepsy of infancy with migrating focal seizures
NEDCAS neurodevelopmental disorder with cerebellar atrophy and with or without seizures
RMFSL rigidity and multifocal seizure syndrome, lethal neonatal
Location 7p22.3      Physical location : -
Synonym name
  • chromosome 7 open reading frame 27
  • HEAT repeat-containing protein C7orf27
  • Synonym symbol(s) MGC22916, C7orf27, BAAT1, NEDCAS, RMFSL
    DNA
    TYPE functioning gene
    STRUCTURE 17.71 kb     14 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 2631 - 646 - 2011 22977523
    14 - 2779 - 821 - 2011 22977523
    14 - 2959 - 881 - 2011 22977523
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • roles of BRAT1 in cell proliferation and mitochondrial functions 1)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NDFIP1-mediated ubiquitination of BRAT1 leads to BRAT1 trafficking into the cell nucleus
  • functions as an activator of ATM by maintaining its phosphorylated status while also keeping other phosphatases at bay
  • BRAT1 tightly interacts with INTS9/INTS11 subunits of the Integrator complex that processes 3' ends of various noncoding RNAs and pre-mRNAs
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NEDCAS , RMFSL , EIMFS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS