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ARID1B AT-rich interaction domain 1B [ Homo sapiens (human) ]

Gene ID: 57492, updated on 22-Sep-2022

Summary

Official Symbol
ARID1Bprovided by HGNC
Official Full Name
AT-rich interaction domain 1Bprovided by HGNC
Primary source
HGNC:HGNC:18040
See related
Ensembl:ENSG00000049618 MIM:614556; AllianceGenome:HGNC:18040
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
CSS1; OSA2; 6A3-5; DAN15; MRD12; P250R; BRIGHT; BAF250B; SMARCF2; ELD/OSA1
Summary
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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Expression
Ubiquitous expression in thyroid (RPKM 7.6), skin (RPKM 7.3) and 25 other tissues See more
Orthologs
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Genomic context

See ARID1B in Genome Data Viewer
Location:
6q25.3
Exon count:
26
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (156776026..157210779)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (157978277..158414307)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (157097160..157531913)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 478 Neighboring gene Sharpr-MPRA regulatory region 1028 Neighboring gene uncharacterized LOC115308161 Neighboring gene microRNA 4466 Neighboring gene Sharpr-MPRA regulatory region 494 Neighboring gene Sharpr-MPRA regulatory region 1838 Neighboring gene uncharacterized LOC124901445 Neighboring gene uncharacterized LOC105378075

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Coffin-Siris syndrome 1 Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-05-26)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2021-05-26)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
EBI GWAS Catalog
Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.
EBI GWAS Catalog
Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1235

Gene Ontology Provided by GOA

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
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription coactivator activity NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
part_of SWI/SNF complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of SWI/SNF complex IC
Inferred by Curator
more info
PubMed 
part_of SWI/SNF complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of bBAF complex IC
Inferred by Curator
more info
PubMed 
part_of brahma complex IC
Inferred by Curator
more info
PubMed 
located_in chromatin IC
Inferred by Curator
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
part_of nBAF complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of nBAF complex IC
Inferred by Curator
more info
PubMed 
part_of npBAF complex IC
Inferred by Curator
more info
PubMed 
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
AT-rich interactive domain-containing protein 1B
Names
ARID domain-containing protein 1B
AT rich interactive domain 1B (SWI1-like)
BRG1-associated factor 250b
BRG1-binding protein ELD/OSA1
ELD (eyelid)/OSA protein

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.

Genomic

  1. NG_066624.1 RefSeqGene

    Range
    6353..439754
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001363725.2NP_001350654.1  AT-rich interactive domain-containing protein 1B isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (4) is shorter at the N-terminus compared to isoform 3.
    Source sequence(s)
    AL049820, AL591545
    Consensus CDS
    CCDS87460.1
    UniProtKB/TrEMBL
    A0A1B0GVK1
    Related
    ENSP00000490550.1, ENST00000637904.1
    Conserved Domains (3) summary
    smart00501
    Location:357448
    BRIGHT; BRIGHT, ARID (A/T-rich interaction domain) domain
    pfam09606
    Location:470850
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam12031
    Location:12301485
    BAF250_C; SWI/SNF-like complex subunit BAF250/Osa
  2. NM_001371656.1NP_001358585.1  AT-rich interactive domain-containing protein 1B isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL049820, AL162578, AL355297, AL591545
    UniProtKB/TrEMBL
    A0A3F2YNW7
    Related
    ENSP00000344546.5, ENST00000346085.10
    Conserved Domains (3) summary
    pfam09606
    Location:12631643
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cd16877
    Location:11501242
    ARID_ARID1B; ARID/BRIGHT DNA binding domain of AT-rich interactive domain-containing protein 1B (ARID1B) and similar proteins
    pfam12031
    Location:20232278
    BAF250_C; SWI/SNF-like complex subunit BAF250/Osa
  3. NM_001374820.1NP_001361749.1  AT-rich interactive domain-containing protein 1B isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate in-frame exon and lacks another alternate in-frame exon compared to variant 3. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 3.
    Source sequence(s)
    AL049820, AL162578, AL355297, AL591545
    Consensus CDS
    CCDS55072.1
    UniProtKB/TrEMBL
    A0A3F2YNW7
    Related
    ENSP00000498155.1, ENST00000647938.1
    Conserved Domains (3) summary
    pfam09606
    Location:12631643
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cd16877
    Location:11501242
    ARID_ARID1B; ARID/BRIGHT DNA binding domain of AT-rich interactive domain-containing protein 1B (ARID1B) and similar proteins
    pfam12031
    Location:20232278
    BAF250_C; SWI/SNF-like complex subunit BAF250/Osa
  4. NM_001374828.1NP_001361757.1  AT-rich interactive domain-containing protein 1B isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
    Source sequence(s)
    AL049820, AL162578, AL355297, AL591545
    Consensus CDS
    CCDS87459.1
    UniProtKB/TrEMBL
    A0A6Q8NVI4
    Related
    ENSP00000490491.2, ENST00000636930.2
    Conserved Domains (5) summary
    PRK10263
    Location:756944
    PRK10263; DNA translocase FtsK; Provisional
    pfam09606
    Location:13031683
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cd16877
    Location:11901282
    ARID_ARID1B; ARID/BRIGHT DNA binding domain of AT-rich interactive domain-containing protein 1B (ARID1B) and similar proteins
    pfam03154
    Location:7731128
    Atrophin-1; Atrophin-1 family
    pfam12031
    Location:20632318
    BAF250_C; SWI/SNF-like complex subunit BAF250/Osa
  5. NM_017519.3NP_059989.3  AT-rich interactive domain-containing protein 1B isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame exon compared to variant 3. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 3.
    Source sequence(s)
    AL049820, AL162578, AL355297, AL591545
    Consensus CDS
    CCDS5251.2
    Related
    ENSP00000055163.7, ENST00000350026.10
    Conserved Domains (4) summary
    PHA03307
    Location:744996
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam09606
    Location:12501630
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cd16877
    Location:11371229
    ARID_ARID1B; ARID/BRIGHT DNA binding domain of AT-rich interactive domain-containing protein 1B (ARID1B) and similar proteins
    pfam12031
    Location:20102265
    BAF250_C; SWI/SNF-like complex subunit BAF250/Osa

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    156776026..157210779
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535984.3XP_011534286.3  AT-rich interactive domain-containing protein 1B isoform X1

  2. XM_017011105.3XP_016866594.2  AT-rich interactive domain-containing protein 1B isoform X6

  3. XM_017011104.2XP_016866593.2  AT-rich interactive domain-containing protein 1B isoform X5

  4. XM_017011106.3XP_016866595.2  AT-rich interactive domain-containing protein 1B isoform X15

  5. XM_047419135.1XP_047275091.1  AT-rich interactive domain-containing protein 1B isoform X9

  6. XM_017011107.3XP_016866596.2  AT-rich interactive domain-containing protein 1B isoform X17

  7. XM_047419150.1XP_047275106.1  AT-rich interactive domain-containing protein 1B isoform X25

  8. XM_047419138.1XP_047275094.1  AT-rich interactive domain-containing protein 1B isoform X12

  9. XM_047419146.1XP_047275102.1  AT-rich interactive domain-containing protein 1B isoform X21

  10. XM_047419131.1XP_047275087.1  AT-rich interactive domain-containing protein 1B isoform X3

  11. XM_047419137.1XP_047275093.1  AT-rich interactive domain-containing protein 1B isoform X11

  12. XM_047419134.1XP_047275090.1  AT-rich interactive domain-containing protein 1B isoform X8

  13. XM_047419145.1XP_047275101.1  AT-rich interactive domain-containing protein 1B isoform X20

  14. XM_047419151.1XP_047275107.1  AT-rich interactive domain-containing protein 1B isoform X26

  15. XM_047419141.1XP_047275097.1  AT-rich interactive domain-containing protein 1B isoform X14

  16. XM_047419130.1XP_047275086.1  AT-rich interactive domain-containing protein 1B isoform X2

  17. XM_047419136.1XP_047275092.1  AT-rich interactive domain-containing protein 1B isoform X10

  18. XM_047419133.1XP_047275089.1  AT-rich interactive domain-containing protein 1B isoform X7

  19. XM_047419143.1XP_047275099.1  AT-rich interactive domain-containing protein 1B isoform X18

  20. XM_047419144.1XP_047275100.1  AT-rich interactive domain-containing protein 1B isoform X19

  21. XM_047419132.1XP_047275088.1  AT-rich interactive domain-containing protein 1B isoform X4

  22. XM_047419140.1XP_047275096.1  AT-rich interactive domain-containing protein 1B isoform X13

  23. XM_047419148.1XP_047275104.1  AT-rich interactive domain-containing protein 1B isoform X23

  24. XM_047419147.1XP_047275103.1  AT-rich interactive domain-containing protein 1B isoform X22

  25. XM_047419152.1XP_047275108.1  AT-rich interactive domain-containing protein 1B isoform X27

  26. XM_047419142.1XP_047275098.1  AT-rich interactive domain-containing protein 1B isoform X16

  27. XM_047419149.1XP_047275105.1  AT-rich interactive domain-containing protein 1B isoform X24

  28. XM_047419155.1XP_047275111.1  AT-rich interactive domain-containing protein 1B isoform X30

  29. XM_047419153.1XP_047275109.1  AT-rich interactive domain-containing protein 1B isoform X28

  30. XM_047419154.1XP_047275110.1  AT-rich interactive domain-containing protein 1B isoform X29

  31. XM_011535988.4XP_011534290.1  AT-rich interactive domain-containing protein 1B isoform X31

    Related
    ENSP00000490385.1, ENST00000635957.1
    Conserved Domains (4) summary
    smart00501
    Location:154245
    BRIGHT; BRIGHT, ARID (A/T-rich interaction domain) domain
    pfam09606
    Location:277711
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam03353
    Location:588666
    Lin-8; Ras-mediated vulval-induction antagonizt
    pfam12031
    Location:10271282
    DUF3518; Domain of unknown function (DUF3518)
  32. XM_047419156.1XP_047275112.1  AT-rich interactive domain-containing protein 1B isoform X32

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    157978277..158414307
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_032093.2: Suppressed sequence

    Description
    NG_032093.2: This RefSeq was removed because it was a RefSeqGene reference standard corresponding to LRG_861, which is being deprecated as the CDS was determined to be incorrectly annotated on the included reference transcripts.