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ARID1A Gene

protein-coding   GIFtS: 60
GCID: GC01P027022

AT Rich Interactive Domain 1A (SWI-Like)

(Previous names: SWI/SNF related, matrix associated, actin dependent regulator...)
(Previous symbols: C1orf4, SMARCF1)
  See ARID1A-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
AT Rich Interactive Domain 1A (SWI-Like)1 2     MRD142 5
C1orf41 2 3 5     AT Rich Interactive Domain 1A (SWI- Like)1
SMARCF11 2 3 5     SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of
Chromatin, Subfamily F, Member 11
B1202 3 5     BAF250a2
Osa Homolog 12 3     BM0292
BAF2502 3     ELD2
OSA12 3     P2702
ARID Domain-Containing Protein 1A2 3     AT-Rich Interactive Domain-Containing Protein 1A2
BRG1-Associated Factor 250a2 3     Brain Protein 1202
hELD2 3     Chromatin Remodeling Factor P2502
hOSA12 3     OSA1 Nuclear Protein2
SWI-Like Protein2 3     BAF250A3
SWI/SNF Complex Protein P2702 3     BRG1-Associated Factor 2503
SWI/SNF-Related, Matrix-Associated, Actin-Dependent Regulator Of Chromatin
Subfamily F Member 12 3
     

External Ids:    HGNC: 111101   Entrez Gene: 82892   Ensembl: ENSG000001177137   OMIM: 6030245   UniProtKB: O144973   

Export aliases for ARID1A gene to outside databases

Previous GC identifers: GC01P026627 GC01P026706 GC01P026895 GC01P025309


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ARID1A Gene:
This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are
thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The
encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for
transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains
that could be important for its function. First, it has a DNA-binding domain that can specifically bind an
AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus
of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the
protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its
targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ARID1A Gene:
ARID1A (AT rich interactive domain 1A (SWI-like)) is a protein-coding gene. Diseases associated with ARID1A include mental retardation, autosomal dominant 14, and arid1a-related coffin-siris syndrome. GO annotations related to this gene include transcription coactivator activity and ligand-dependent nuclear receptor binding. An important paralog of this gene is ARID1B.

UniProtKB/Swiss-Prot: ARI1A_HUMAN, O14497
Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling
(alteration of DNA-nucleosome topology). Binds DNA non-specifically. Also involved in vitamin D-coupled
transcription regulation via its association with the WINAC complex, a chromatin-remodeling complex recruited by
vitamin D receptor (VDR), which is required for the ligand-bound VDR-mediated transrepression of the CYP27B1
gene. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the
neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a
stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become
committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic
neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit
mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are
exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific
complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent
neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for
dendrite growth (By similarity)

Gene Wiki entry for ARID1A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the ARID1A gene promoter:
         E2F-4   E2F-3a   AREB6   E2F-5   E2F   p53   E2F-1   E2F-2   Pax-4a   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ARID1A promoter sequence
   Search Chromatin IP Primers for ARID1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARID1A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p35.3   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p36.1-p35

ARID1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARID1A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P027022:  view genomic region     (about GC identifiers)

Start:
27,022,522 bp from pter      End:
27,108,601 bp from pter
Size:
86,080 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ARI1A_HUMAN, O14497 (See protein sequence)
Recommended Name: AT-rich interactive domain-containing protein 1A  
Size: 2285 amino acids; 242045 Da
Subunit: Component of SWI/SNF chromatin remodeling complexes, in some of which it can be mutually exclusive with
ARID1B/BAF250B. Component of the BAF (SWI/SNF-A) complex, which includes at least actin (ACTB), ARID1A,
ARID1B/BAF250, SMARCA2, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155,
SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In
muscle cells, the BAF complex also contains DPF3. Component of the SWI/SNF-B (PBAF) complex, at least composed of
SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A,
SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PB1/BAF180, ARID2/BAF200, ARID1A/BAF250A
or ARID1B/BAF250B and actin. Component of the SWI/SNF Brm complex, at least composed of SMARCA2/BRM/BAF190B,
SMARCB1/BAF47, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, BAF60 (one or more of SMARCD1/BAF60A,
SMARCD2/BAF60B, or SMARCD3/BAF60C), SMARCC1/BAF155, SMARCC2/BAF170, ARID1A/BAF250A, SIN3A, HDAC1, HDAC2, and
RBAP4. Component of the SWI/SNF complex Brg1(I), at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47,
ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, BAF60 (one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or
SMARCD3/BAF60C), SMARCC1/BAF155, SMARCC2/BAF170, ARID1A/BAF250A, SIN3A, and probably HDAC2 and RBAP4. Component
of the SWI/SNF Brg1(II), at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, ACTL6A/BAF53A or
ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, ARID1A/BAF250A and probably HDAC2 and RBAP4.
Component of a SWI/SNF-like EPAFa complex, at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47,
ACTL6A/BAF53A, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCC1/BAF155, SMARCC2/BAF170, BAF250A and MLLT1/ENL. Component of
a SWI/SNF-like complex containing ARID1A/BAF250A and ARID1B/BAF250B. Interacts through its C-terminus with
SMARCA2/BRM/BAF190B and SMARCA4/BRG1/BAF190A. Component of the WINAC complex, at least composed of SMARCA2,
SMARCA4, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCE1, ACTL6A, BAZ1B/WSTF, ARID1A, SUPT16H, CHAF1A and TOP2B.
Interacts with SMARCC1/BAF155. Component of neural progenitors-specific chromatin remodeling complex (npBAF
complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C,
SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170,
PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex)
composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B,
SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C,
ACTL6B/BAF53B and actin (By similarity)
Sequence caution: Sequence=AAF75765.1; Type=Frameshift; Positions=374; Sequence=AAG33967.1; Type=Frameshift;
Positions=872, 885; Sequence=BAA23269.1; Type=Frameshift; Positions=Several; Sequence=BAA83073.1; Type=Erroneous
gene model prediction; Sequence=BAA83073.1; Type=Frameshift; Positions=Several;
1 PDB 3D structure from and Proteopedia for ARID1A:
1RYU (3D)    
Secondary accessions: D3DPL1 Q53FK9 Q5T0W1 Q5T0W2 Q5T0W3 Q8NFD6 Q96T89 Q9BY33 Q9HBJ5 Q9UPZ1
Alternative splicing: 3 isoforms:  O14497-1   O14497-2   O14497-3   

Explore the universe of human proteins at neXtProt for ARID1A: NX_O14497

Explore proteomics data for ARID1A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys1201, Lys1662
  • Modification sites at PhosphoSitePlus

  • See ARID1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_006006.3  NP_624361.1  

    ENSEMBL proteins: 
     ENSP00000320485   ENSP00000387636   ENSP00000432473   ENSP00000363267   ENSP00000390317  
     ENSP00000432368   ENSP00000436692   ENSP00000442437  

    ARID1A Human Recombinant Protein Products:

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    Novus Biologicals ARID1A Protein
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    Cloud-Clone Corp. Proteins for ARID1A

     
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    antibodies-online proteins for ARID1A (2 products) 

     
    Search antibodies-online for peptides for ARID1A

    ARID1A Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ARID1A
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    antibodies-online antibodies for ARID1A (12 products) 

    ARID1A Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR021906 DUF3518
     IPR016024 ARM-type_fold
     IPR001606 ARID/BRIGHT_DNA-bd

    Graphical View of Domain Structure for InterPro Entry O14497

    ProtoNet protein and cluster: O14497

    1 Blocks protein domain: IPB001606 ARID (AT-rich interaction domain) protein

    UniProtKB/Swiss-Prot: ARI1A_HUMAN, O14497
    Similarity: Contains 1 ARID domain


    Find genes that share domains with ARID1A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ARI1A_HUMAN, O14497
    Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling
    (alteration of DNA-nucleosome topology). Binds DNA non-specifically. Also involved in vitamin D-coupled
    transcription regulation via its association with the WINAC complex, a chromatin-remodeling complex recruited by
    vitamin D receptor (VDR), which is required for the ligand-bound VDR-mediated transrepression of the CYP27B1
    gene. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the
    neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a
    stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become
    committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic
    neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit
    mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are
    exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific
    complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent
    neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for
    dendrite growth (By similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding NAS10757798
    GO:0003713transcription coactivator activity NAS8804307
    GO:0005488binding ----
    GO:0005515protein binding IPI11780067
    GO:0016922ligand-dependent nuclear receptor binding IPI17363140
         
    Find genes that share ontologies with ARID1A           About GenesLikeMe


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Arid1a):
     cardiovascular system  embryogenesis  growth/size/body  hematopoietic system  homeostasis/metabolism 
     mortality/aging  muscle  nervous system  no phenotypic analysis  normal 
     vision/eye 

    Find genes that share phenotypes with ARID1A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ARID1A: Arid1atm2Zhwa Arid1atm1Zhwa Arid1atm1.2Zhwa

       genOway: Develop your customized and physiologically relevant rodent model for ARID1A

    miRNA
    Products:
        
    miRTarBase miRNAs that target ARID1A:
    hsa-mir-484 (MIRT042203), hsa-let-7e-5p (MIRT051608), hsa-mir-92a-3p (MIRT049171), hsa-mir-221-3p (MIRT024162), hsa-mir-324-3p (MIRT042943), hsa-mir-1 (MIRT001385), hsa-mir-101-3p (MIRT004027), hsa-mir-18a-3p (MIRT040907), hsa-mir-877-3p (MIRT036956), hsa-mir-296-3p (MIRT038464), hsa-mir-193b-3p (MIRT041580), hsa-mir-331-3p (MIRT043438), hsa-mir-98-5p (MIRT027653), hsa-mir-181a-2-3p (MIRT038669)

    Block miRNA regulation of human, mouse, rat ARID1A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ARID1A (see all 74):
    hsa-miR-3607-3p hsa-miR-485-3p hsa-miR-30d hsa-miR-30a hsa-miR-4274 hsa-miR-3613-3p hsa-miR-3148 hsa-miR-509-3-5p
    SwitchGear 3'UTR luciferase reporter plasmidARID1A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ARID1A

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    GenScript: all cDNA clones in your preferred vector (see all 2): ARID1A (NM_139135)
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ARI1A_HUMAN, O14497: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    endoplasmic reticulum1
    extracellular1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IDA17363140
    GO:0005622intracellular ----
    GO:0005634nucleus TAS12200431
    GO:0005730NOT nucleolus IDA--
    GO:0016514SWI/SNF complex IDA11078522

    Find genes that share ontologies with ARID1A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ARID1A About    
    See pathways by source

    SuperPathContained pathways About
    1Transcription Ligand dependent activation of the ESR1 SP pathway
    Transcription Ligand dependent activation of the ESR1 SP pathway0.37
    Development Ligand dependent activation of the ESR1 AP 1 pathway0.37
    2PEDF Induced Signaling
    Glucocorticoid Receptor Signaling0.43
    3Prostate Cancer
    Prostate Cancer0.32
    4Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation
    5AMPK Enzyme Complex Pathway
    AMPK Enzyme Complex Pathway


    Find genes that share SuperPaths with ARID1A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ARID1A
        AMPK Enzyme Complex Pathway
    Glucocorticoid Receptor Signaling

    1 Cell Signaling Technology (CST) Pathway for ARID1A
        Chromatin Regulation / Acetylation

    2 GeneGo (Thomson Reuters) Pathways for ARID1A
        Transcription Ligand-dependent activation of the ESR1/SP pathway
    Development Ligand-dependent activation of the ESR1/AP-1 pathway

    1 BioSystems Pathway for ARID1A
        Prostate Cancer


        Pathway & Disease-focused RT2 Profiler PCR Arrays including ARID1A: 
              Polycomb & Trithorax Complexes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ARID1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ARID1A (O144971, 2, 3 ENSP000003204854) via UniProtKB, MINT, STRING, and/or I2D (see all 842)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMARCA2P515311, 2, 3, ENSP000002657734EBI-637887,EBI-679562 MINT-7945693 I2D: score=4 STRING: ENSP00000265773
    SMARCD1Q96GM52, 3, ENSP000003784144MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000378414
    HDAC1Q135472, 3, ENSP000003626494MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000362649
    HDAC2Q927692, 3, ENSP000003813314MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000381331
    ADNPQ9H2P02, 3, ENSP000003429054MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000342905
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001843neural tube closure IEA--
    GO:0003205cardiac chamber development IEA--
    GO:0003408optic cup formation involved in camera-type eye development IEA--
    GO:0006325chromatin organization ----

    Find genes that share ontologies with ARID1A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ARID1A (ARI1A)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ARID1A gene (3 alternative transcripts): 
    NM_006015.4  NM_139135.2  NM_018450.4  

    Unigene Cluster for ARID1A:

    AT rich interactive domain 1A (SWI-like)
    Hs.468972  [show with all ESTs]
    Unigene Representative Sequence: NM_006015
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000324856(uc001bmt.1 uc001bmu.1 uc001bmv.1 uc001bmx.1 uc009vsm.1 uc009vsn.1)
    ENST00000457599 ENST00000524572 ENST00000374152(uc001bmw.1) ENST00000430291
    ENST00000430799 ENST00000466382 ENST00000532781 ENST00000540690
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ARID1A (see all 74):
    hsa-miR-3607-3p hsa-miR-485-3p hsa-miR-30d hsa-miR-30a hsa-miR-4274 hsa-miR-3613-3p hsa-miR-3148 hsa-miR-509-3-5p
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    GenScript: all cDNA clones in your preferred vector (see all 2): ARID1A (NM_139135)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARID1A
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ARID1A
    Addgene plasmids for ARID1A 
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      QuantiTect SYBR Green Assays in human, mouse, rat ARID1A
      QuantiFast Probe-based Assays in human, mouse, rat ARID1A

    Additional mRNA sequence: 

    AB001895.1 AB210022.1 AF219114.1 AF231056.1 AF265208.1 AF268913.1 AF521670.1 AK027442.1 
    AK027655.1 AK074940.1 AK223275.1 AK308363.1 BC112895.1 

    20 DOTS entries:

    DT.80101892  DT.100820491  DT.95099951  DT.100820498  DT.95374384  DT.95306771  DT.92002745  DT.121415986 
    DT.91909049  DT.95125016  DT.75100076  DT.91762934  DT.92424902  DT.95125881  DT.95137717  DT.95153174 
    DT.95251905  DT.95316675  DT.100872497  DT.121415980 

    Selected AceView cDNA sequences (see all 408):

    AI961620 AA385744 AW137382 W57548 AI473765 BF329923 NM_139135 BQ676377 
    BE818527 NM_006015 AW592462 AW193067 BU682880 AF521670 AW364066 BM990490 
    BM676437 BU619128 H16963 W07419 BU153701 W68669 BX953866 AI290660 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ARID1A (see all 13)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18 ^ 19a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 19b · 19c · 19d ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24
    SP1:                                                      
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for ARID1A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ARID1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGAACCTA
    ARID1A Expression
    About this image


    ARID1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Thymus (Hematopoietic System)
             Thymus
     
     Bone (Muscoskeletal System)
             Bone Marrow
    ARID1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARID1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.468972

    UniProtKB/Swiss-Prot: ARI1A_HUMAN, O14497
    Tissue specificity: Highly expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon, and PBL,
    and at a much lower level in heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ARID1A: 
              Polycomb & Trithorax Complexes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Primer
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARID1A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ARID1A gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arid1a1 , 5 AT rich interactive domain 1A (SWI-like)1, 5 92.07(n)1
    95.15(a)1
      4 (66.25 cM)5
    937601  NM_001080819.11  NP_001074288.11 
     1336790085 
    chicken
    (Gallus gallus)
    Aves ARID1A1 AT rich interactive domain 1A (SWI-like) 80.54(n)
    88.2(a)
      419542  XM_417693.4  XP_417693.4 
    lizard
    (Anolis carolinensis)
    Reptilia ARID1A6
    AT rich interactive domain 1A (SWI-like)
    85(a)
    1 ↔ 1
    GL343488.1(48289-103487)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX843931.12   -- 78.58(n)    BX843931.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.269312 Transcribed sequence with weak similarity to protein refNP_065783.1 (H.sapiens) BRG1-binding protein ELD/OSA1 [Homo sapiens] less 84.69(n)    CB357397.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta osa6
    osa
    25(a)
    1 → many
    3R(13513540-13544059)
    worm
    (Caenorhabditis elegans)
    Secernentea let-5266
    Protein LET-526, isoform a
    22(a)
    1 → many
    I(5300995-5313926) WBGene00002717


    ENSEMBL Gene Tree for ARID1A (if available)
    TreeFam Gene Tree for ARID1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ARID1A gene
    ARID1B2  ARID3C2  ARID3A2  ARID3B2  
    2 SIMAP similar genes for ARID1A using alignment to 8 protein entries:     ARI1A_HUMAN (see all proteins):
    ARID1A variant protein    ARID1B

    Find genes that share paralogs with ARID1A           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ARID1A (see all 1511)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs612423101,2
    C--27031943(+) TTTTT-/CCCCCC 2 -- int10--------
    rs710078871,2
    C--27040892(+) TGTTT-/GTTT/GTTT
    GTTTGTTTGTTT
    TTGAG
    2 -- int11NA 2
    rs668842051,2
    C--27060835(+) GCTTC-/TTTTTT 2 -- int10--------
    rs351107871,2
    C--27065368(+) TTTTT-/TGAGAC 2 -- int11Minor allele frequency- T:0.00NA 2
    rs360875881,2
    C--27075119(+) TTTTT-/T/TT  
            
    GTCAG
    2 -- int11NA 2
    rs591355561,2
    C--27083055(+) AAAAA-/ACAAAA 2 -- int10--------
    rs113069681,2
    C,F--27085549(+) GTGTT-/AACTGT 2 -- int13Minor allele frequency- A:0.33NA CSA 6
    rs765008461,2
    F--27102828(+) GGCGCC/TATCAC 2 -- int11Minor allele frequency- T:0.50NA 2
    rs716367781,2
    C,F--27104612(+) CCCGAT/CGTGGT 2 -- int14Minor allele frequency- C:0.07NA CSA WA 242
    rs3698960371,2
    C--27107263(+) ACACC-/CCCCCC 4 -- ut310--------

    HapMap Linkage Disequilibrium report for ARID1A (27022522 - 27108601 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ARID1A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv275548CNV Loss21479260
    nsv7523CNV Loss18451855

    Human Gene Mutation Database (HGMD): ARID1A
    Locus Specific Mutation Databases (LSDB): ARID1A

    Selected Site Specific Mutation Identification with PCR Assays for ARID1A (see all 10):
    Cosmic IdAA Change
    51453p.Q524*
    13835p.G945fs*23
    51425p.R1989*
    51223p.W1545*
    51222p.S1338fs*106
    1 Copy Number PCR Panel containing ARID1A:
    Pancreatic Cancer
    SeqTarget long-range PCR primers for resequencing ARID1A
    DNA2.0 Custom Variant and Variant Library Synthesis for ARID1A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603024   
    OMIM disorders: 614607  
    UniProtKB/Swiss-Prot: ARI1A_HUMAN, O14497
  • Mental retardation, autosomal dominant 14 (MRD14) [MIM:614607]: A disease characterized by multiple
    congenital anomalies and mental retardation. Mental retardation is defined by significantly below average general
    intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental
    period. MRD14 patients manifest developmental delay, abnormal corpus callosum, absent/hypoplastic fifth
    finger/toenails, sparse scalp hair, long eyelashes, and a coarse facial appearance with wide mouth, thick lips,
    and abnormal ears. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 4 diseases for ARID1A:    
    About MalaCards
    mental retardation, autosomal dominant 14    arid1a-related coffin-siris syndrome    coffin-siris syndrome    adenofibroma

    3 diseases from the University of Copenhagen DISEASES database for ARID1A:
    Endometriosis     Adenofibroma     Coffin-Siris syndrome

    Find genes that share disorders with ARID1A           About GenesLikeMe


    Export disorders for ARID1A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ARID1A gene, integrated from 10 sources (see all 118):
    (articles sorted by number of sources associating them with ARID1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of a novel human cDNA containing CAG repeats. (PubMed id 9434167)1, 2, 3 Takeuchi T.... Ohtsuki Y. (Gene 1997)
    2. Characterization of mammalian orthologues of the Drosophila osa gene: cDNA cloning, expression, chromosomal localization, and direct physical interaction with Brahma chromatin-remodeling complex. (PubMed id 11318604)1, 2, 9 Kozmik Z.... Vlcek C. (Genomics 2001)
    3. The human SWI-SNF complex protein p270 is an ARID family member with non-sequence-specific DNA binding activity. (PubMed id 10757798)1, 2, 9 Dallas P.B....Moran E. (Mol. Cell. Biol. 2000)
    4. Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor types. (PubMed id 22009941)1, 2 Jones S....Papadopoulos N. (Hum. Mutat. 2012)
    5. Mutations affecting components of the SWI/SNF complex cause Coffin- Siris syndrome. (PubMed id 22426308)1, 2 Tsurusaki Y....Matsumoto N. (Nat. Genet. 2012)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    8. Two related ARID family proteins are alternative subunits of human SWI/SNF complexes. (PubMed id 15170388)1, 2 Wang X.... Moran E. (Biochem. J. 2004)
    9. Structure and DNA-binding sites of the SWI1 AT-rich interaction domain (ARID) suggest determinants for sequence-specific DNA recognition. (PubMed id 14722072)1, 2 Kim S.... Chen Y. (J. Biol. Chem. 2004)
    10. Novel SWI/SNF chromatin-remodeling complexes contain a mixed-lineage leukemia chromosomal translocation partner. (PubMed id 12665591)1, 2 Nie Z.... Wang W. (Mol. Cell. Biol. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8289 HGNC: 11110 AceView: ARID1A Ensembl:ENSG00000117713 euGenes: HUgn8289
    ECgene: ARID1A H-InvDB: ARID1A

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ARID1A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ARID1A gene:
    Search GeneIP for patents involving ARID1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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