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FLASH GENE
Symbol ARID1A contributors: mct/npt/pgu - updated : 15-09-2014
HGNC name AT rich interactive domain 1A (SWI-like)
HGNC id 11110
Corresponding disease
CSSSA1A Coffin-Siris syndrome
Location 1p36.11      Physical location : 27.022.521 - 27.108.601
Synonym name
  • drosophila trithorax group gene OSA orthologue
  • BRG1-associated factor 250a
  • chromatin remodeling factor p250 , actin dependent regulator of chromatin, subfamily f, member 1
  • AT rich interactive domain 1A (SWI-like)
  • ARID domain- containing protein 1A
  • chromosome 1 open reading frame 4
  • SWI/SNF related, matrix associated, actin dependent
  • Synonym symbol(s) B120, P270, BAF250, C1orf4, SMF1, SMARCF1, OSA1, BAF250a, BM029, ELD, MRD14
    DNA
    TYPE functioning gene
    STRUCTURE 86.08 kb     20 Exon(s)
    motif repetitive sequence
    text structure a CAG repeat (usually 7 repeats)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 8585 - 2285 - 2007 17492758
    20 - 7934 218 2068 - 2007 17492758
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx   highly
    Endocrinepancreas   highly
    Hearing/Equilibriumear   highly
    Lymphoid/Immunethymus   highly
    Reproductivefemale systembreastmammary gland highly
     male systemprostate  highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Lymphoid    
    Muscularstriatumskeletal  
    cell lineage neuroblastoma cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text expressed in mammalian embryonic stem cells
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one ARID DNA binding domain (AT-rich interaction domain)
  • a gluco corticoid receptor dependent transactivation site
  • mono polymer aggregate
    HOMOLOGY
    interspecies ortholog to murine Arid1a
    homolog to to Drosophila Osa, a component of the Drosophila Brahma (Brm) complex
    Homologene
    FAMILY
  • ARID family
  • SWI/SNF family of proteins
  • CATEGORY tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,chromatin/chromosome
    text
  • nuclear ARID1A is less stable than cytoplasmic ARID1A because ARID1A is rapidly degraded by the ubiquitin-proteasome system in the nucleus
  • basic FUNCTION
  • actin dependent regulator of chromatin structure, acting as a tumor suppressor
  • involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration
  • of DNA-nucleosome topology)
  • playing an essential role for normal cell cycle arrest
  • necessary facilitator of BRG1-mediated chromatin remodeling required for SWI/SNF-dependent transcriptional activation
  • key component of the gene regulatory machinery in ES cells controlling self-renewal, differentiation, and cell lineage decisions
  • implicated in the cross talk of histone modifications
  • plays an important role in early development
  • coactivator for the glucocorticoid receptor and an essential gene for FAS-mediated apoptosis
  • 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
  • functioning as a tumor-suppressor gene
  • can bind to AT-rich DNA sequences and is a component of the adenosine triphosphate-dependent chromatin modeling complex switch/sucrose-nonfermentable (SWI/SNF)
  • may be a candidate tumor-suppressor genes (TSGs) in breast cancer
  • tumor suppressor that collaborates with TP53 to regulate CDKN1A and SMAD3 transcription and tumor growth in gynecologic cancers
  • regulates cardiac progenitor cell (CPC) differentiation by modeling the chromatin accessibility at a subset of key genes essential for cardiogenesis
  • is a nucleocytoplasmic protein whose stability depends on its subcellular localization
  • tumor suppressor gene involved in chromatin remodelling
  • specific requirement of the PI3K/AKT pathway in ARID1A-deficient tumors, revealing a synthetic lethal interaction between loss of ARID1A expression and inhibition of the PI3K/AKT pathway
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • unique and defining subunit of the BAF chromatin remodeling complex with the potential to facilitate chromosome alterations critical during development
  • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • promotes the formation of SWI/SNF chromatin remodeling complexes containing SMARCA4 or SMARCA2
  • CDKN1A (encoding p21) acted in part to mediate growth suppression by ARID1A
  • regulates gene expression by binding selectively to its target gene promoters and recruiting SMARCA4, the catalytic subunit of SWI/SNF, to modulate chromatin accessibility
  • ARID1A-DNA interactions are required for promoter occupancy by SWI/SNF
  • ARID1A positively regulates KLF15 expression with PGR to inhibit epithelial proliferation at peri-implantation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CSSSA1A
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOH    
    in neuroblastoma
    tumoral   deletion    
    in lung adenocarcinoma cell line
    tumoral somatic mutation      
    in ovarian clear cell carcinoma
    tumoral     --low  
    occurs in a small but significant proportion of CRCs where it is strongly correlated with mismatch repair deficiency and other clinical and pathological features associated with somatic hypermethylation
    tumoral     --low  
    low ARID1A nuclear expression becomes more prevalent during the later stages of breast tumor progression
    Susceptibility
    Variant & Polymorphism with length polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • BAF250a-deficient mouse embryonic stem cells have been characterized and found to exhibit defects in self-renewal capacity and increased differentiation
  • Baf250a ablation in mouse second heart field (SHF) led to trabeculation defects in the right ventricle, ventricular septal defect, persistent truncus arteriosus, reduced myocardial proliferation, and embryonic lethality
  • disruption of Arid1a-DNA binding in mice results in embryonic lethality, with mutant embryos manifesting prominent defects in the heart and extraembryonic vasculature