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    Arid1b AT-rich interaction domain 1B [ Mus musculus (house mouse) ]

    Gene ID: 239985, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Arid1bprovided by MGI
    Official Full Name
    AT-rich interaction domain 1Bprovided by MGI
    Primary source
    MGI:MGI:1926129
    See related
    Ensembl:ENSMUSG00000069729 AllianceGenome:MGI:1926129
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ardi1b; BAF250B; mKIAA1235; 8030481M12; 9330189K18Rik; B230217J03Rik
    Summary
    Predicted to enable DNA binding activity. Predicted to contribute to nucleosome binding activity. Acts upstream of or within dendritic cell dendrite assembly; dendritic spine development; and neuron-neuron synaptic transmission. Located in nucleus. Part of nBAF complex. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study Coffin-Siris syndrome 1 and autism spectrum disorder. Human ortholog(s) of this gene implicated in Coffin-Siris syndrome; Coffin-Siris syndrome 1; intellectual disability; lung non-small cell carcinoma; and neuroblastoma. Orthologous to human ARID1B (AT-rich interaction domain 1B). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 12.5), ovary adult (RPKM 11.0) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Arid1b in Genome Data Viewer
    Location:
    17 A1; 17 2.83 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (5044481..5397931)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (4994297..5347656)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_41674 Neighboring gene predicted gene, 34507 Neighboring gene predicted gene, 41517 Neighboring gene predicted gene, 34625 Neighboring gene STARR-positive B cell enhancer ABC_E8650 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:5009913-5010101 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:5036377-5036486 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:5089638-5089825 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:5098834-5099017 Neighboring gene STARR-seq mESC enhancer starr_41681 Neighboring gene STARR-seq mESC enhancer starr_41683 Neighboring gene tubulin, alpha 1B pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E10929 Neighboring gene STARR-seq mESC enhancer starr_41685 Neighboring gene predicted gene, 34854 Neighboring gene STARR-seq mESC enhancer starr_41691 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:5295725-5295926 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:5296016-5296125 Neighboring gene STARR-positive B cell enhancer mm9_chr17:5303477-5303778 Neighboring gene STARR-positive B cell enhancer mm9_chr17:5429429-5429729 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:5440198-5440381 Neighboring gene transmembrane protein 242 Neighboring gene predicted gene 29050 Neighboring gene lactate dehydrogenase A-like 6B Neighboring gene non-SMC condensin II complex, subunit H2 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Genetic background determines synaptic phenotypes in Arid1b-mutant mice. Kim H, et al. Front Psychiatry, 2023. PMID 38516548, Free PMC Article
    2. Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment. Celen C, et al. Elife, 2017 Jul 11. PMID 28695822, Free PMC Article
    3. BAF250B-associated SWI/SNF chromatin-remodeling complex is required to maintain undifferentiated mouse embryonic stem cells. Yan Z, et al. Stem Cells, 2008 May. PMID 18323406, Free PMC Article
    4. ARID1B blocks methionine-stimulated mTOR activation to inhibit milk fat and protein synthesis in and proliferation of mouse mammary epithelial cells. Lin G, et al. J Nutr Biochem, 2023 Apr. PMID 36681308
    5. Neuroanatomy and behavior in mice with a haploinsufficiency of AT-rich interactive domain 1B (ARID1B) throughout development. Ellegood J, et al. Mol Autism, 2021 Mar 23. PMID 33757588, Free PMC Article

    See all (82) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ARID1B maintains mesenchymal stem cell quiescence via inhibition of BCL11B-mediated non-canonical Activin signaling.
      Title: ARID1B maintains mesenchymal stem cell quiescence via inhibition of BCL11B-mediated non-canonical Activin signaling.
    2. Dissecting the role of SWI/SNF component ARID1B in steady-state hematopoiesis.
      Title: Dissecting the role of SWI/SNF component ARID1B in steady-state hematopoiesis.
    3. ARID1B blocks methionine-stimulated mTOR activation to inhibit milk fat and protein synthesis in and proliferation of mouse mammary epithelial cells.
      Title: ARID1B blocks methionine-stimulated mTOR activation to inhibit milk fat and protein synthesis in and proliferation of mouse mammary epithelial cells.
    4. Early postnatal serotonin modulation prevents adult-stage deficits in Arid1b-deficient mice through synaptic transcriptional reprogramming.
      Title: Early postnatal serotonin modulation prevents adult-stage deficits in Arid1b-deficient mice through synaptic transcriptional reprogramming.
    5. Differential roles of ARID1B in excitatory and inhibitory neural progenitors in the developing cortex.
      Title: Differential roles of ARID1B in excitatory and inhibitory neural progenitors in the developing cortex.
    6. Autism-associated miR-873 regulates ARID1B, SHANK3 and NRXN2 involved in neurodevelopment.
      Title: Autism-associated miR-873 regulates ARID1B, SHANK3 and NRXN2 involved in neurodevelopment.
    7. Arid1b haploinsufficiency in parvalbumin- or somatostatin-expressing interneurons leads to distinct ASD-like and ID-like behavior.
      Title: Arid1b haploinsufficiency in parvalbumin- or somatostatin-expressing interneurons leads to distinct ASD-like and ID-like behavior.
    8. Genome-wide gene expression patterns in Arid1b hKO mice were similar to those in Autism spectrum disorder (ASD)patients and Chd8-haploinsufficient mice, an ASD model, and to developmental changes in gene expression in fast-spiking cells in the mouse brain. Our results suggest that Arid1b haploinsufficiency causes ASD-like phenotypes in mice.
      Title: Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice.
    9. In the brain, Arid1b haploinsufficiency resulted in changes in the expression of SWI/SNF-regulated genes implicated in neuropsychiatric disorders.
      Title: Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment.
    10. STAT3/Arid1b/beta-catenin pathway is driving neurofibroma initiation.
      Title: Insertional Mutagenesis Identifies a STAT3/Arid1b/β-catenin Pathway Driving Neurofibroma Initiation.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to nucleosome binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within chromatin remodeling IC
    Inferred by Curator
    more info
    		 PubMed 
    acts_upstream_of_or_within dendritic cell dendrite assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within dendritic spine development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neuron-neuron synaptic transmission IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of SWI/SNF complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of SWI/SNF complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of SWI/SNF complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of SWI/SNF superfamily-type complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of brahma complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of nBAF complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of nBAF complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    AT-rich interactive domain-containing protein 1B
    Names
    ARID domain-containing protein 1B
    AT rich interactive domain 1B (SWI-like)
    AT rich interactive domain 1B (Swi1 like)
    BRG1-associated factor 250b

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001085355.1 → NP_001078824.1  AT-rich interactive domain-containing protein 1B

      Status: VALIDATED

      Source sequence(s)
      AC126929, AC166064, BF462904, CK389103
      Consensus CDS
      CCDS49929.1
      UniProtKB/TrEMBL
      A0A338P6U8, A0A8Q0PK87
      Related
      ENSMUSP00000111463.3, ENSMUST00000115797.9
      Conserved Domains (4) summary
      smart00501
      Location:1062 → 1149
      BRIGHT; BRIGHT, ARID (A/T-rich interaction domain) domain
      pfam09606
      Location:1174 → 1555
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam12031
      Location:1935 → 2190
      BAF250_C; SWI/SNF-like complex subunit BAF250/Osa
      cl26464
      Location:451 → 863
      Atrophin-1; Atrophin-1 family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      5044481..5397931
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006523223.5 → XP_006523286.1  AT-rich interactive domain-containing protein 1B isoform X2

      See identical proteins and their annotated locations for XP_006523286.1

      UniProtKB/TrEMBL
      E9Q4N6
      Related
      ENSMUSP00000111465.2, ENSMUST00000115799.2
      Conserved Domains (4) summary
      pfam09606
      Location:705 → 1086
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      cd16877
      Location:593 → 685
      ARID_ARID1B; ARID/BRIGHT DNA binding domain of AT-rich interactive domain-containing protein 1B (ARID1B) and similar proteins
      pfam12031
      Location:1466 → 1721
      BAF250_C; SWI/SNF-like complex subunit BAF250/Osa
      pfam15362
      Location:163 → 363
      Enamelin

    2. XM_006523221.5 → XP_006523284.2  AT-rich interactive domain-containing protein 1B isoform X1

      UniProtKB/Swiss-Prot
      E9Q4N7
      UniProtKB/TrEMBL
      A0A338P6U8
      Related
      ENSMUSP00000090398.5, ENSMUST00000092723.11
      Conserved Domains (4) summary
      PHA03307
      Location:568 → 923
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam09606
      Location:1237 → 1617
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      cd16877
      Location:1124 → 1216
      ARID_ARID1B; ARID/BRIGHT DNA binding domain of AT-rich interactive domain-containing protein 1B (ARID1B) and similar proteins
      pfam12031
      Location:1997 → 2252
      BAF250_C; SWI/SNF-like complex subunit BAF250/Osa
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    E9Q4N7.2 GenPept UniProtKB/Swiss-Prot:E9Q4N7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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