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FLASH GENE
Symbol ARID1B contributors: mct/npt/pgu - updated : 10-10-2015
HGNC name AT rich interactive domain 1B (SWI1-like)
HGNC id 18040
Corresponding disease
CSSSA1B Coffin-Siris syndrome
DEL6Q25 chromosome 6q25 deletion
MRD12 mental retardation, autosomal dominant 12
Location 6q25.3      Physical location : 157.099.063 - 157.531.911
Synonym name
  • ARID DNA binding domain
  • BRG1-binding protein ELD/OSA1
  • BRG1-associated factor 250b
  • Eld (eyelid)/Osa protein
  • Synonym symbol(s) DAN15, p250R, BAF250b, KIAA1235, ELD/OSA1, 6A3-5, MRD12, OSA2
    DNA
    TYPE functioning gene
    STRUCTURE 431.32 kb     20 Exon(s)
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 9609 - 2236 - 2004 15170388
    20 - 9648 - 2249 - 2004 15170388
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinethyroid   highly
    Lymphoid/Immunelymph node   highly
    Nervousbrain     Homo sapiens
    Reproductivefemale systemuteruscervix highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticprogenitor cell Homo sapiensFetal
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text stem cells
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • ARID DNA binding domain (AT-rich interaction domain)
  • a BC box motif, associate with TCEB1 in a BC box-dependent manner, and, together with cullin 2 and RBX1, assemble into an E3 ubiquitin ligase
  • C terminal EHD1 and EHD2 domains mediating binding to BRG1
  • HOMOLOGY
    interspecies ortholog to murine Arid1b
    homolog to to Drosophila Osa, a component of the Drosophila Brahma (Brm) complex
    intraspecies homolog to ARID1A
    Homologene
    FAMILY
  • ARID family of DNA-binding proteins
  • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • involved in embryonic development, cell lineage gene regulation and cell cycle control
  • involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of
  • DNA-nucleosome topology)
  • may participate in globin regulation and may be important in the normal physiology of erythrocytes
  • implicated in the cross talk of histone modifications
  • plays an important role in early development
  • Trithorax g protein functioning as an E3 ubiquitin ligase adapter for histone H2BK120 and having important implications for chromatin remodeling by SWI/SNF and H2B monoubiquitination, an upstream event of H3K4 trimethylation associated with gene activation
  • DNA-binding subunit of the Brahma-associated factor chromatin remodelling complexes, which play a key role in the regulation of gene activity
  • is likely to play a key role in neurodevelopment and reduced levels of wild-type protein compromise normal brain development
  • repressor of WNT/CTNNB1 signaling
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the neuron-specific chromatin remodelling complex
  • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • BRG1
  • interacts with Smad2/3 in response to the cytokine transforming growth factor beta (TGF-b)
  • represses WNT/CTNNB signaling in the nucleus at the level of CTNNB through a SMARCA4-dependent mechanism
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL6Q25 , CSSSA1B , MRD12
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion   dominant negative
    haploinsufficiency of ARID1B, is a common cause of intellectual disability (,
    constitutional       loss of function
    leads to elevated Wnt/CTNNB1-dependent transcription of target genes
    tumoral     --low  
    in pancreatic cancer (PaCa) tissue, especially in samples from advanced-stage tumours, when compared with normal pancreas
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    BAF250b-deficient mouse embryonic stem cells have been characterized and found to exhibit defects in self-renewal capacity and increased differentiation