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Aliases for ARID1A Gene

Aliases for ARID1A Gene

  • AT Rich Interactive Domain 1A (SWI-Like) 2 3
  • SMARCF1 3 4 6
  • C1orf4 3 4 6
  • B120 3 4 6
  • SWI/SNF-Related, Matrix-Associated, Actin-Dependent Regulator Of Chromatin Subfamily F Member 1 3 4
  • ARID Domain-Containing Protein 1A 3 4
  • SWI/SNF Complex Protein P270 3 4
  • BRG1-Associated Factor 250a 3 4
  • SWI-Like Protein 3 4
  • Osa Homolog 1 3 4
  • BAF250a 3 4
  • BAF250 3 4
  • MRD14 3 6
  • HOSA1 3 4
  • OSA1 3 4
  • HELD 3 4
  • SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily F, Member 1 2
  • AT-Rich Interactive Domain-Containing Protein 1A 3
  • AT Rich Interactive Domain 1A (SWI- Like) 2
  • Chromatin Remodeling Factor P250 3
  • BRG1-Associated Factor 250 4
  • OSA1 Nuclear Protein 3
  • Brain Protein 120 3
  • BM029 3
  • P270 3
  • ELD 3

External Ids for ARID1A Gene

Previous HGNC Symbols for ARID1A Gene

  • C1orf4
  • SMARCF1

Previous GeneCards Identifiers for ARID1A Gene

  • GC01P026627
  • GC01P026895
  • GC01P027022
  • GC01P025309

Summaries for ARID1A Gene

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 coffin-siris syndrome. Among its related pathways are Transcription Ligand-dependent activation of the ESR1/SP pathway and Prostate Cancer. GO annotations related to this gene include transcription coactivator activity and ligand-dependent nuclear receptor binding. An important paralog of this gene is ARID3B.

UniProtKB/Swiss-Prot for ARID1A Gene

  • Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Binds DNA non-specifically. 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARID1A Gene

Genomics for ARID1A Gene

Regulatory Elements for ARID1A Gene

Genomic Location for ARID1A Gene

Start:
26,696,031 bp from pter
End:
26,782,110 bp from pter
Size:
86,080 bases
Orientation:
Plus strand

Genomic View for ARID1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ARID1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARID1A Gene

Proteins for ARID1A Gene

  • Protein details for ARID1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14497-ARI1A_HUMAN
    Recommended name:
    AT-rich interactive domain-containing protein 1A
    Protein Accession:
    O14497
    Secondary Accessions:
    • D3DPL1
    • Q53FK9
    • Q5T0W1
    • Q5T0W2
    • Q5T0W3
    • Q8NFD6
    • Q96T89
    • Q9BY33
    • Q9HBJ5
    • Q9UPZ1

    Protein attributes for ARID1A Gene

    Size:
    2285 amino acids
    Molecular mass:
    242045 Da
    Quaternary structure:
    • 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. 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).
    SequenceCaution:
    • Sequence=AAF75765.1; Type=Frameshift; Positions=374; Evidence={ECO:0000305}; Sequence=AAG33967.1; Type=Frameshift; Positions=872, 885; Evidence={ECO:0000305}; Sequence=BAA23269.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=BAA83073.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA83073.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARID1A Gene

    Alternative splice isoforms for ARID1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARID1A Gene

Proteomics data for ARID1A Gene at MOPED

Post-translational modifications for ARID1A Gene

  • Ubiquitination at Lys1201 and Lys1662
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARID1A Gene

Domains for ARID1A Gene

Protein Domains for ARID1A Gene

Graphical View of Domain Structure for InterPro Entry

O14497

UniProtKB/Swiss-Prot:

ARI1A_HUMAN :
  • O14497
Domain:
  • Contains 1 ARID domain.
genes like me logo Genes that share domains with ARID1A: view

No data available for Gene Families for ARID1A Gene

Function for ARID1A Gene

Molecular function for ARID1A Gene

UniProtKB/Swiss-Prot Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Binds DNA non-specifically. 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) - Molecular Function for ARID1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding NAS 10757798
GO:0003713 transcription coactivator activity NAS 8804307
GO:0005488 binding --
GO:0005515 protein binding IPI 11780067
GO:0016922 ligand-dependent nuclear receptor binding IPI 17363140
genes like me logo Genes that share ontologies with ARID1A: view
genes like me logo Genes that share phenotypes with ARID1A: view

Animal Models for ARID1A Gene

MGI Knock Outs for ARID1A:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for ARID1A Gene

Localization for ARID1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARID1A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARID1A Gene COMPARTMENTS Subcellular localization image for ARID1A gene
Compartment Confidence
nucleus 5
cytosol 2
endoplasmic reticulum 1
extracellular 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ARID1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 17363140
GO:0005622 intracellular --
GO:0005634 nucleus TAS 12200431
GO:0005654 nucleoplasm IDA --
GO:0016514 SWI/SNF complex IDA 11078522
genes like me logo Genes that share ontologies with ARID1A: view

Pathways for ARID1A Gene

genes like me logo Genes that share pathways with ARID1A: view

Pathways by source for ARID1A Gene

1 Cell Signaling Technology pathway for ARID1A Gene

Gene Ontology (GO) - Biological Process for ARID1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001843 neural tube closure IEA --
GO:0003205 cardiac chamber development IEA --
GO:0003408 optic cup formation involved in camera-type eye development IEA --
GO:0006325 chromatin organization --
genes like me logo Genes that share ontologies with ARID1A: view

Transcripts for ARID1A Gene

Unigene Clusters for ARID1A Gene

AT rich interactive domain 1A (SWI-like):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ARID1A Gene

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:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:

ExUns: 19b · 19c · 19d ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - -
SP10:
SP11:
SP12:
SP13:

Relevant External Links for ARID1A Gene

GeneLoc Exon Structure for
ARID1A
ECgene alternative splicing isoforms for
ARID1A

Expression for ARID1A Gene

mRNA expression in normal human tissues for ARID1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ARID1A Gene

SOURCE GeneReport for Unigene cluster for ARID1A Gene Hs.468972

mRNA Expression by UniProt/SwissProt for ARID1A Gene

O14497-ARI1A_HUMAN
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.
genes like me logo Genes that share expressions with ARID1A: view

No data available for mRNA differential expression in normal tissues for ARID1A Gene

Orthologs for ARID1A Gene

This gene was present in the common ancestor of animals.

Orthologs for ARID1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARID1A 35
  • 99.74 (n)
  • 99.74 (a)
ARID1A 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ARID1A 35
  • 94.02 (n)
  • 96.75 (a)
ARID1A 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARID1A 35
  • 95.22 (n)
  • 97.84 (a)
ARID1A 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arid1a 35
  • 92.07 (n)
  • 95.15 (a)
Arid1a 16
Arid1a 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARID1A 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 96 (a)
OneToMany
-- 36
  • 89 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Arid1a 35
  • 91.94 (n)
  • 95.89 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 83 (a)
OneToMany
-- 36
  • 48 (a)
OneToMany
ARID1A 35
  • 80.54 (n)
  • 88.2 (a)
lizard
(Anolis carolinensis)
Reptilia ARID1A 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arid1a 35
  • 70.83 (n)
  • 75.9 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12620 35
zebrafish
(Danio rerio)
Actinopterygii arid1aa 36
  • 61 (a)
OneToMany
arid1ab 35
  • 69.09 (n)
  • 73.98 (a)
arid1ab 36
  • 62 (a)
OneToMany
Dr.26931 35
fruit fly
(Drosophila melanogaster)
Insecta osa 36
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea let-526 36
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.335 36
  • 47 (a)
OneToOne
Species with no ortholog for ARID1A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ARID1A Gene

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

Paralogs for ARID1A Gene

Paralogs for ARID1A Gene

Selected SIMAP similar genes for ARID1A Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with ARID1A: view

Variants for ARID1A Gene

Sequence variations from dbSNP and Humsavar for ARID1A Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs12685 -- 26,781,754(+) CCAGA(C/T)ATCGC utr-variant-3-prime
rs1044113 -- 26,781,043(+) TTTTT(A/T)TTTTA utr-variant-3-prime
rs1064004 -- 26,774,423(-) GAGGC(A/G/T)GCCCC reference, missense, intron-variant
rs1133451 -- 26,729,813(-) CTGCA(C/T)GGTCA reference, missense
rs2273016 -- 26,773,733(-) CCGAG(A/C)CCAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ARID1A Gene

Variant ID Type Subtype PubMed ID
esv275548 CNV Loss 21479260
nsv7523 CNV Loss 18451855

Relevant External Links for ARID1A Gene

HapMap Linkage Disequilibrium report
ARID1A
Human Gene Mutation Database (HGMD)
ARID1A
Locus Specific Mutation Databases (LSDB)
ARID1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARID1A Gene

Disorders for ARID1A Gene

(1) OMIM Diseases for ARID1A Gene (603024)

UniProtKB/Swiss-Prot

ARI1A_HUMAN
  • 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. {ECO:0000269 PubMed:22426308}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for ARID1A Gene

genes like me logo Genes that share disorders with ARID1A: view

Publications for ARID1A Gene

  1. The human SWI-SNF complex protein p270 is an ARID family member with non-sequence-specific DNA binding activity. (PMID: 10757798) Dallas P.B. … Moran E. (Mol. Cell. Biol. 2000) 3 4 23
  2. Characterization of mammalian orthologues of the Drosophila osa gene: cDNA cloning, expression, chromosomal localization, and direct physical interaction with Brahma chromatin-remodeling complex. (PMID: 11318604) Kozmik Z. … Vlcek C. (Genomics 2001) 3 4 23
  3. Molecular cloning and expression of a novel human cDNA containing CAG repeats. (PMID: 9434167) Takeuchi T. … Ohtsuki Y. (Gene 1997) 2 3 4
  4. Chromosomal mapping and expression of the human B120 gene. (PMID: 9630625) Takeuchi T. … Ohtsuki Y. (Gene 1998) 2 3
  5. A specificity and targeting subunit of a human SWI/SNF family-related chromatin-remodeling complex. (PMID: 11073988) Nie Z. … Wang W. (Mol. Cell. Biol. 2000) 3 4

Products for ARID1A Gene

  • antibodies-online proteins for ARID1A
  • antibodies-online antibodies for ARID1A
  • antibodies-online kits for ARID1A

Sources for ARID1A Gene

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