Display Settings:

Format

Send to:

Choose Destination

ARID1B AT rich interactive domain 1B (SWI1-like) [ Homo sapiens (human) ]

Gene ID: 57492, updated on 21-Nov-2014
Official Symbol
ARID1Bprovided by HGNC
Official Full Name
AT rich interactive domain 1B (SWI1-like)provided by HGNC
Primary source
HGNC:HGNC:18040
Locus tag
RP11-419L10.1
See related
Ensembl:ENSG00000049618; HPRD:10660; MIM:614556; Vega:OTTHUMG00000015890
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
OSA2; 6A3-5; DAN15; MRD12; P250R; BRIGHT; BAF250B; 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. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2012]
See ARID1B in Epigenomics, MapViewer
Location:
6q25.1
Exon count:
23
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (156777846..157210779)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (157098980..157531913)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928923 Neighboring gene microRNA 1202 Neighboring gene nuclear-encoded mitochondrial transfer RNA-Val (TAC) 1-1 Neighboring gene microRNA 4466 Neighboring gene uncharacterized LOC101928946 Neighboring gene lactate dehydrogenase A-like 6F, pseudogene Neighboring gene transmembrane protein 242

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Mental retardation, autosomal dominant 12
MedGen: C3281201 OMIM: 614562 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-09-06)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-09-06)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide association study of serum uric acid in African Americans.
NHGRI GWA Catalog
APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
NHGRI GWA Catalog
Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.
NHGRI GWA Catalog
Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
NHGRI GWA Catalog
  • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
    Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
  • Chromatin organization, organism-specific biosystem (from REACTOME)
    Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
  • Prostate Cancer, organism-specific biosystem (from WikiPathways)
    Prostate Cancer, organism-specific biosystem
    Prostate Cancer
  • RMTs methylate histone arginines, organism-specific biosystem (from REACTOME)
    RMTs methylate histone arginines, organism-specific biosystemArginine methylation is a common post-translational modification; around 2% of arginine residues are methylated in rat liver nuclei (Boffa et al. 1977). Arginine can be methylated in 3 different ways...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1235

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA 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
chromatin-mediated maintenance of transcription NAS
Non-traceable Author Statement
more info
PubMed 
nervous system development IEA
Inferred from Electronic Annotation
more info
 
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 
cytoplasm IDA
Inferred from Direct Assay
more info
 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
AT-rich interactive domain-containing protein 1B
Names
AT-rich interactive domain-containing protein 1B
ELD (eyelid)/OSA protein
BRG1-associated factor 250b
BRG1-binding protein ELD/OSA1
ARID domain-containing protein 1B

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_032093.1 

    Range
    5001..437850
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_017519.2NP_059989.2  AT-rich interactive domain-containing protein 1B isoform 1

    See proteins identical to NP_059989.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
    Source sequence(s)
    AF521671, AL355297, AL591545, BU733862, Y08266
    Consensus CDS
    CCDS5251.2
    UniProtKB/Swiss-Prot
    Q8NFD5
    Related
    ENSP00000055163, OTTHUMP00000223605, ENST00000350026, OTTHUMT00000372723
    Conserved Domains (3) summary
    smart00501
    Location:10541145
    BRIGHT; BRIGHT, ARID (A/T-rich interaction domain) domain
    pfam12031
    Location:19262182
    DUF3518; Domain of unknown function (DUF3518)
    cl02310
    Location:698764
    Glyco_hydro_81; Glycosyl hydrolase family 81
  2. NM_020732.3NP_065783.3  AT-rich interactive domain-containing protein 1B isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a longer protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AF468300, AF521671, AL355297, AL591545, BU733862, Y08266
    Consensus CDS
    CCDS55072.1
    UniProtKB/Swiss-Prot
    Q8NFD5
    Related
    ENSP00000344546, OTTHUMP00000017476, ENST00000346085, OTTHUMT00000042827
    Conserved Domains (3) summary
    smart00501
    Location:10671158
    BRIGHT; BRIGHT, ARID (A/T-rich interaction domain) domain
    pfam12031
    Location:19392195
    DUF3518; Domain of unknown function (DUF3518)
    cl02310
    Location:711777
    Glyco_hydro_81; Glycosyl hydrolase family 81

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    154662908..155095126
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    156777846..157210779
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715523.1XP_006715586.1  

    Conserved Domains (3) summary
    smart00501
    Location:11911282
    BRIGHT; BRIGHT, ARID (A/T-rich interaction domain) domain
    pfam12031
    Location:20632319
    DUF3518; Domain of unknown function (DUF3518)
    cl02310
    Location:739805
    Glyco_hydro_81; Glycosyl hydrolase family 81
  2. XM_006715526.1XP_006715589.1  

    Conserved Domains (3) summary
    smart00501
    Location:11381229
    BRIGHT; BRIGHT, ARID (A/T-rich interaction domain) domain
    pfam12031
    Location:20102266
    DUF3518; Domain of unknown function (DUF3518)
    cl02310
    Location:739805
    Glyco_hydro_81; Glycosyl hydrolase family 81
  3. XM_006715525.1XP_006715588.1  

    Conserved Domains (3) summary
    smart00501
    Location:11481239
    BRIGHT; BRIGHT, ARID (A/T-rich interaction domain) domain
    pfam12031
    Location:20202276
    DUF3518; Domain of unknown function (DUF3518)
    cl02310
    Location:739805
    Glyco_hydro_81; Glycosyl hydrolase family 81
  4. XM_006715527.1XP_006715590.1  

    Conserved Domains (3) summary
    smart00501
    Location:10951186
    BRIGHT; BRIGHT, ARID (A/T-rich interaction domain) domain
    pfam12031
    Location:19672223
    DUF3518; Domain of unknown function (DUF3518)
    cl02310
    Location:739805
    Glyco_hydro_81; Glycosyl hydrolase family 81
  5. XM_006715524.1XP_006715587.1  

    Conserved Domains (3) summary
    smart00501
    Location:11771268
    BRIGHT; BRIGHT, ARID (A/T-rich interaction domain) domain
    pfam12031
    Location:20492305
    DUF3518; Domain of unknown function (DUF3518)
    cl02310
    Location:725791
    Glyco_hydro_81; Glycosyl hydrolase family 81
  6. XM_005267069.2XP_005267126.1  

    Conserved Domains (3) summary
    smart00501
    Location:11341225
    BRIGHT; BRIGHT, ARID (A/T-rich interaction domain) domain
    pfam12031
    Location:20062262
    DUF3518; Domain of unknown function (DUF3518)
    cl02310
    Location:725791
    Glyco_hydro_81; Glycosyl hydrolase family 81

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    157361290..157794248
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)