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Aliases for ARID1B Gene

Aliases for ARID1B Gene

  • AT Rich Interactive Domain 1B (SWI1-Like) 2 3
  • BAF250B 3 4 6
  • ARID Domain-Containing Protein 1B 3 4
  • BRG1-Associated Factor 250b 3 4
  • KIAA1235 4 6
  • P250R 3 4
  • MRD12 3 6
  • DAN15 3 4
  • OSA2 3 4
  • AT-Rich Interactive Domain-Containing Protein 1B 3
  • BRG1-Binding Protein HELD/OSA1 4
  • BRG1-Binding Protein ELD/OSA1 3
  • ELD (Eyelid)/OSA Protein 3
  • Osa Homolog 2 4
  • ELD/OSA1 3
  • BRIGHT 3
  • 6A3-5 3
  • HOsa2 4

External Ids for ARID1B Gene

Previous GeneCards Identifiers for ARID1B Gene

  • GC06P157130
  • GC06P157191
  • GC06P154662
  • GC06P157105

Summaries for ARID1B Gene

Entrez Gene Summary for ARID1B Gene

  • This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2012]

GeneCards Summary for ARID1B Gene

ARID1B (AT Rich Interactive Domain 1B (SWI1-Like)) is a Protein Coding gene. Diseases associated with ARID1B include mental retardation, autosomal dominant 12 and chromosome 6q25 microdeletion 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. An important paralog of this gene is ARID3B.

UniProtKB/Swiss-Prot for ARID1B Gene

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

Gene Wiki entry for ARID1B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARID1B Gene

Genomics for ARID1B Gene

Regulatory Elements for ARID1B Gene

Genomic Location for ARID1B Gene

Start:
156,777,846 bp from pter
End:
157,210,779 bp from pter
Size:
432,934 bases
Orientation:
Plus strand

Genomic View for ARID1B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ARID1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARID1B Gene

Proteins for ARID1B Gene

  • Protein details for ARID1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFD5-ARI1B_HUMAN
    Recommended name:
    AT-rich interactive domain-containing protein 1B
    Protein Accession:
    Q8NFD5
    Secondary Accessions:
    • Q5JRD1
    • Q5VYC4
    • Q8IZY8
    • Q8TEV0
    • Q8TF02
    • Q99491
    • Q9ULI5

    Protein attributes for ARID1B Gene

    Size:
    2236 amino acids
    Molecular mass:
    236123 Da
    Quaternary structure:
    • Component of SWI/SNF chromatin remodeling complexes, in some of which it can be mutually exclusive with ARID1A/BAF250A. 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 a SWI/SNF-like EPAFb complex, at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, ACTL6A/BAF53A, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, SMARCC1/BAF155, SMARCC2/BAF170, ARID1B/BAF250B, MLLT1/ENL and actin. 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=AAL76077.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAN70985.1; Type=Frameshift; Positions=857, 863; Evidence={ECO:0000305}; Sequence=CAA69592.1; Type=Frameshift; Positions=132; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARID1B Gene

    Alternative splice isoforms for ARID1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARID1B Gene

Proteomics data for ARID1B Gene at MOPED

Post-translational modifications for ARID1B Gene

  • Ubiquitination at Lys2097 and Lys2187
  • Modification sites at PhosphoSitePlus

Other Protein References for ARID1B Gene

No data available for DME Specific Peptides for ARID1B Gene

Domains for ARID1B Gene

Protein Domains for ARID1B Gene

Suggested Antigen Peptide Sequences for ARID1B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NFD5

UniProtKB/Swiss-Prot:

ARI1B_HUMAN :
  • Q8NFD5
Domain:
  • Contains 1 ARID domain.
genes like me logo Genes that share domains with ARID1B: view

No data available for Gene Families for ARID1B Gene

Function for ARID1B Gene

Molecular function for ARID1B Gene

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

Gene Ontology (GO) - Molecular Function for ARID1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003713 transcription coactivator activity NAS 11734557
GO:0005488 binding --
GO:0005515 protein binding IPI 12200431
genes like me logo Genes that share ontologies with ARID1B: view

Phenotypes for ARID1B Gene

genes like me logo Genes that share phenotypes with ARID1B: view

miRNA for ARID1B Gene

miRTarBase miRNAs that target ARID1B

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ARID1B Gene

Localization for ARID1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARID1B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARID1B Gene COMPARTMENTS Subcellular localization image for ARID1B gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ARID1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0016514 SWI/SNF complex IDA 11734557
genes like me logo Genes that share ontologies with ARID1B: view

Pathways for ARID1B Gene

genes like me logo Genes that share pathways with ARID1B: view

Pathways by source for ARID1B Gene

Gene Ontology (GO) - Biological Process for ARID1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006338 chromatin remodeling --
GO:0006351 transcription, DNA-templated IEA --
GO:0007399 nervous system development IEA --
GO:0048096 chromatin-mediated maintenance of transcription NAS 11734557
genes like me logo Genes that share ontologies with ARID1B: view

Transcripts for ARID1B Gene

Unigene Clusters for ARID1B Gene

AT rich interactive domain 1B (SWI1-like):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ARID1B Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^
SP1: - - - - - - - - -
SP2: - - - - - - - - - -
SP3: -
SP4: - - - -
SP5: - -
SP6: - - - - -
SP7: -
SP8: - -
SP9:
SP10:

ExUns: 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for ARID1B Gene

GeneLoc Exon Structure for
ARID1B
ECgene alternative splicing isoforms for
ARID1B

Expression for ARID1B Gene

mRNA expression in normal human tissues for ARID1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for ARID1B Gene

SOURCE GeneReport for Unigene cluster for ARID1B Gene Hs.291587

mRNA Expression by UniProt/SwissProt for ARID1B Gene

Q8NFD5-ARI1B_HUMAN
Tissue specificity: Widely expressed with high levels in heart, skeletal muscle and kidney.
genes like me logo Genes that share expressions with ARID1B: view

No data available for mRNA differential expression in normal tissues for ARID1B Gene

Orthologs for ARID1B Gene

This gene was present in the common ancestor of animals.

Orthologs for ARID1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARID1B 36
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ARID1B 35
  • 90.42 (n)
  • 94.42 (a)
ARID1B 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARID1B 35
  • 89.73 (n)
  • 93.39 (a)
ARID1B 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arid1b 35
  • 87.09 (n)
  • 91.27 (a)
Arid1b 16
Arid1b 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARID1B 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARID1B 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arid1b 35
  • 86.92 (n)
  • 91.8 (a)
chicken
(Gallus gallus)
Aves ARID1B 35
  • 82.19 (n)
  • 89.42 (a)
ARID1B 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARID1B 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arid1b 35
  • 74.04 (n)
  • 77.93 (a)
zebrafish
(Danio rerio)
Actinopterygii arid1b 35
  • 63.75 (n)
  • 62.27 (a)
arid1b 36
  • 55 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta osa 36
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea let-526 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
ManyToMany
Species with no ortholog for ARID1B:
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 ARID1B Gene

ENSEMBL:
Gene Tree for ARID1B (if available)
TreeFam:
Gene Tree for ARID1B (if available)

Paralogs for ARID1B Gene

Paralogs for ARID1B Gene

Selected SIMAP similar genes for ARID1B Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ARID1B: view

Variants for ARID1B Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ARID1B Gene

Q8NFD5-ARI1B_HUMAN
The poly-Gln region is polymorphic and the number of Gln varies in the population (from 17 to 23)

Sequence variations from dbSNP and Humsavar for ARID1B Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs11858 -- 157,209,024(+) TACAG(A/T)CAAAA utr-variant-3-prime
rs157661 -- 156,929,294(-) AAAGC(A/G)ATATA intron-variant
rs158256 -- 156,885,935(-) AATTT(C/T)GGATT intron-variant
rs158257 -- 156,886,099(-) TGTCT(C/T)GGATT intron-variant
rs158258 -- 156,880,797(-) CACCA(A/G)AAGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ARID1B Gene

Variant ID Type Subtype PubMed ID
nsv823884 CNV Loss 20364138
nsv519889 CNV Loss 19592680
dgv1071n67 CNV Gain 20364138
esv33003 CNV Loss 17666407
nsv507370 CNV Insertion 20534489
nsv523413 CNV Gain 19592680
nsv508436 CNV Loss 20534489
nsv5556 CNV Loss 18451855
esv271459 CNV Insertion 20981092
esv272891 CNV Insertion 20981092
esv2673117 CNV Deletion 23128226
esv1041952 CNV Deletion 17803354
esv27020 CNV Loss 19812545
esv1286652 CNV Deletion 17803354

Relevant External Links for ARID1B Gene

HapMap Linkage Disequilibrium report
ARID1B
Human Gene Mutation Database (HGMD)
ARID1B

Disorders for ARID1B Gene

(1) OMIM Diseases for ARID1B Gene (614556)

UniProtKB/Swiss-Prot

ARI1B_HUMAN
  • Mental retardation, autosomal dominant 12 (MRD12) [MIM:614562]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD12 patients present with moderate to severe psychomotor retardation, and most show evidence of muscular hypotonia. In many patients, expressive speech is more severely affected than receptive function. Additional common findings include short stature, abnormal head shape and low-set, posteriorly rotated, and abnormally shaped ears, downslanting palpebral fissures, a bulbous nasal tip, a thin upper lip, minor teeth anomalies, and brachydactyly or single palmar creases. Autistic features are uncommon. {ECO:0000269 PubMed:22405089, ECO:0000269 PubMed:22426308, ECO:0000269 PubMed:22426309}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for ARID1B Gene

Relevant External Links for ARID1B

Genetic Association Database (GAD)
ARID1B
Human Genome Epidemiology (HuGE) Navigator
ARID1B
genes like me logo Genes that share disorders with ARID1B: view

Publications for ARID1B Gene

  1. Ischemia induces early expression of a new transcription factor (6A3-5) in kidney vascular smooth muscle cells: studies in rat and human renal pathology. (PMID: 14633620) Garin G. … McGregor J.L. (Am. J. Pathol. 2003) 3 23
  2. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. (PMID: 8896557) Imbert G. … Brice A. (Nat. Genet. 1996) 3 4
  3. New 5'-(CGG)-3' repeats in the human genome. (PMID: 9804814) Mangel L. … Doerfler W. (J. Biol. Chem. 1998) 3 4
  4. SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones. (PMID: 11734557) Kato H. … Roeder R.G. (J. Biol. Chem. 2002) 3 4
  5. Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein. (PMID: 11988099) Hurlstone A.F. … Clevers H. (Biochem. J. 2002) 3 4

Products for ARID1B Gene

  • antibodies-online proteins for ARID1B
  • antibodies-online antibodies for ARID1B
  • antibodies-online kits for ARID1B

Sources for ARID1B Gene

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