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ARID1A AT rich interactive domain 1A (SWI-like) [ Homo sapiens (human) ]

Gene ID: 8289, updated on 19-Jul-2014
Official Symbol
ARID1Aprovided by HGNC
Official Full Name
AT rich interactive domain 1A (SWI-like)provided by HGNC
Primary source
HGNC:11110
Locus tag
RP1-50O24.1
See related
Ensembl:ENSG00000117713; HPRD:04319; MIM:603024; Vega:OTTHUMG00000004004
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ELD; B120; OSA1; P270; hELD; BM029; MRD14; hOSA1; BAF250; C1orf4; BAF250a; SMARCF1
Summary
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]
See ARID1A in Epigenomics, MapViewer
Location:
1p35.3
Exon count :
20
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (26696031..26782110)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (27022522..27108601)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene developmental pluripotency associated 2 pseudogene 2 Neighboring gene ribosomal protein S6 kinase, 90kDa, polypeptide 1 Neighboring gene microRNA 1976 Neighboring gene collagen alpha-1(III) chain-like Neighboring gene phosphatidylinositol glycan anchor biosynthesis, class V Neighboring gene zinc finger, DHHC-type containing 18

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Mental retardation, autosomal dominant 14
MedGen: CN123922 OMIM: 614607 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-03-14)

ISCA Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2013-03-14)

ISCA Genome Curation PagePubMed

Replication interactions

Interaction Pubs
Knockdown of AT rich interactive domain 1A, SWI-like (ARID1A; BAF250) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Protein interactions

Protein Gene Interaction Pubs
Tat tat Most of the components of the SWI2/SNF2 chromatin remodeling complex (BRG1/BRM, BAF250, BAF180, BAF170, BAF155, BAF60a, BAF53A, actin and InI) except BRM, BAF155 and BAF57, are identified to interact with HIV-1 Tat in Jurkat cell PubMed
tat Acetylated HIV-1 Tat binds efficiently to BRG1 and BAF200 (component of PBAF complex) and weakly to BAF250 (component of BAF complex). BAF250 has a preference to bind to unmodified Tat PubMed

Go to the HIV-1, Human Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IDA
Inferred from Direct Assay
more info
 
DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
ligand-dependent nuclear receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
nucleosome binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
ATP-dependent chromatin remodeling IEA
Inferred from Electronic Annotation
more info
 
androgen receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
cardiac chamber development IEA
Inferred from Electronic Annotation
more info
 
chromatin remodeling IDA
Inferred from Direct Assay
more info
PubMed 
chromatin-mediated maintenance of transcription TAS
Traceable Author Statement
more info
PubMed 
forebrain development IEA
Inferred from Electronic Annotation
more info
 
glucocorticoid receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
intracellular estrogen receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
neural tube closure IEA
Inferred from Electronic Annotation
more info
 
nucleosome disassembly IDA
Inferred from Direct Assay
more info
PubMed 
nucleosome mobilization TAS
Traceable Author Statement
more info
PubMed 
optic cup formation involved in camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
placenta blood vessel development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription from RNA polymerase II promoter NAS
Non-traceable Author Statement
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
SWI/SNF complex IDA
Inferred from Direct Assay
more info
PubMed 
nBAF complex ISS
Inferred from Sequence or Structural Similarity
more info
 
npBAF complex ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
AT-rich interactive domain-containing protein 1A
Names
AT-rich interactive domain-containing protein 1A
osa homolog 1
SWI-like protein
brain protein 120
OSA1 nuclear protein
BRG1-associated factor 250a
SWI/SNF complex protein p270
chromatin remodeling factor p250
ARID domain-containing protein 1A
SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin subfamily F member 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029965.1 

    Range
    5001..91080
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006015.4NP_006006.3  AT-rich interactive domain-containing protein 1A isoform a

    See proteins identical to NP_006006.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AF521670, AL034380, AL512408
    Consensus CDS
    CCDS285.1
    UniProtKB/Swiss-Prot
    O14497
    Related
    ENSP00000320485, OTTHUMP00000004117, ENST00000324856, OTTHUMT00000011437
    Conserved Domains (2) summary
    pfam12031
    Location:19752231
    Blast Score: 1260
    DUF3518; Domain of unknown function (DUF3518)
    pfam01388
    Location:10141104
    Blast Score: 262
    ARID; ARID/BRIGHT DNA binding domain
  2. NM_139135.2NP_624361.1  AT-rich interactive domain-containing protein 1A isoform b

    See proteins identical to NP_624361.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a segment in the coding region compared to variant 1. Variant 2 encodes isoform b, which lacks an internal segment compared to isoform a.
    Source sequence(s)
    AF268913, AF521670, AL034380, AL512408
    Consensus CDS
    CCDS44091.1
    UniProtKB/Swiss-Prot
    O14497
    Conserved Domains (3) summary
    pfam12031
    Location:17582014
    Blast Score: 1257
    DUF3518; Domain of unknown function (DUF3518)
    pfam01388
    Location:10141104
    Blast Score: 262
    ARID; ARID/BRIGHT DNA binding domain
    pfam10428
    Location:655778
    Blast Score: 92
    SOG2; RAM signalling pathway protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    26696031..26782110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    25309350..25361809
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    27135825..27221852
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_018450.4: Suppressed sequence

    Description
    NM_018450.4: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

Supplemental Content

Recent activity