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Protein

AT-rich interactive domain-containing protein 1B

Gene

ARID1B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. 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 postmitotic 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 postmitotic 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 (PubMed:14982958, PubMed:15170388).3 PublicationsBy similarity2 Publications

Caution

It is uncertain whether Met-1 or Met-59 is the initiator.Curated

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • DNA binding Source: GDB
  • DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
  • transcription coactivator activity Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChromatin regulator, DNA-binding
Biological processNeurogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-3214858 RMTs methylate histone arginines
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

SIGNOR Signaling Network Open Resource

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SIGNORi
Q8NFD5

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
AT-rich interactive domain-containing protein 1B
Short name:
ARID domain-containing protein 1B
Alternative name(s):
BRG1-associated factor 250b
Short name:
BAF250B
BRG1-binding protein hELD/OSA1
Osa homolog 2
Short name:
hOsa2
p250R
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ARID1B
Synonyms:BAF250B, DAN15, KIAA1235, OSA2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000049618.21

Human Gene Nomenclature Database

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HGNCi
HGNC:18040 ARID1B

Online Mendelian Inheritance in Man (OMIM)

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MIMi
614556 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q8NFD5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Coffin-Siris syndrome 1 (CSS1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported.
See also OMIM:135900

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
57492

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
ARID1B

MalaCards human disease database

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MalaCardsi
ARID1B
MIMi135900 phenotype

Open Targets

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OpenTargetsi
ENSG00000049618

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
251056 6q25 microdeletion syndrome
1465 Coffin-Siris syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134909463

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
ARID1B

Domain mapping of disease mutations (DMDM)

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DMDMi
73921720

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002005762 – 2236AT-rich interactive domain-containing protein 1BAdd BLAST2235

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei404Asymmetric dimethylarginineBy similarity1
Modified residuei502PhosphoserineCombined sources1
Modified residuei516PhosphoserineCombined sources1
Modified residuei525Asymmetric dimethylarginineBy similarity1
Modified residuei557Asymmetric dimethylarginineCombined sources1
Modified residuei1542PhosphoserineCombined sources1
Modified residuei1555PhosphoserineCombined sources1
Modified residuei1559PhosphoserineCombined sources1
Modified residuei1715PhosphoserineCombined sources1
Modified residuei1777N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8NFD5

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8NFD5

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q8NFD5

PeptideAtlas

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PeptideAtlasi
Q8NFD5

PRoteomics IDEntifications database

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PRIDEi
Q8NFD5

ProteomicsDB human proteome resource

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ProteomicsDBi
73289
73290 [Q8NFD5-2]
73291 [Q8NFD5-3]
73292 [Q8NFD5-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NFD5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q8NFD5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed with high levels in heart, skeletal muscle and kidney.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000049618 Expressed in 217 organ(s), highest expression level in female reproductive system

CleanEx database of gene expression profiles

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CleanExi
HS_ARID1B

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8NFD5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8NFD5 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA016511
HPA075291

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of SWI/SNF chromatin remodeling complexes, in some of which it can be mutually exclusive with ARID1B/BAF250B (PubMed:12672490, PubMed:22952240, PubMed:26601204, PubMed:12200431, PubMed:11988099, PubMed:15170388). The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (PubMed:11734557, PubMed:22952240, PubMed:26601204). Component of the BAF (SWI/SNF-A) complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C (PubMed:18765789). In muscle cells, the BAF complex also contains DPF3. 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). Component of a SWI/SNF-like EBAFb complex, at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, SMARCC1/BAF155, SMARCC2/BAF170, ARID1B/BAF250B, MLLT1/ENL and actin (PubMed:12665591). Interacts through its C-terminus with SMARCA2/BRM/BAF190B and SMARCA4/BRG1/BAF190A (PubMed:12200431, PubMed:11988099, PubMed:15170388). Interacts with SMARCC1/BAF155 (PubMed:15170388).3 PublicationsBy similarity5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121559, 46 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1205 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA2 variant
CPX-1206 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant
CPX-1210 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant
CPX-1211 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant
CPX-1213 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
CPX-1215 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
CPX-1217 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
CPX-1218 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
CPX-1220 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
CPX-1221 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
CPX-1223 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA2 variant
CPX-1224 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant
CPX-1227 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant
CPX-1228 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q8NFD5

Protein interaction database and analysis system

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IntActi
Q8NFD5, 23 interactors

Molecular INTeraction database

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MINTi
Q8NFD5

STRING: functional protein association networks

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STRINGi
9606.ENSP00000344546

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

12236
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q8NFD5

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8NFD5

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q8NFD5

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1053 – 1144ARIDPROSITE-ProRule annotationAdd BLAST92

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi419 – 423LXXLL5
Motifi1358 – 1377Nuclear localization signalBy similarityAdd BLAST20
Motifi2036 – 2040LXXLL5

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi2 – 47Ala-richAdd BLAST46
Compositional biasi35 – 57Ser-richAdd BLAST23
Compositional biasi81 – 104His-richAdd BLAST24
Compositional biasi107 – 131Gln-richAdd BLAST25
Compositional biasi114 – 131Poly-GlnAdd BLAST18
Compositional biasi141 – 401Gly-richAdd BLAST261
Compositional biasi329 – 493Ala-richAdd BLAST165
Compositional biasi574 – 633Gln-richAdd BLAST60
Compositional biasi684 – 771Ser-richAdd BLAST88
Compositional biasi932 – 935Poly-Ala4
Compositional biasi1034 – 1037Poly-Ser4
Compositional biasi1441 – 1444Poly-Ser4
Compositional biasi1459 – 1597Pro-richAdd BLAST139
Compositional biasi1833 – 1836Poly-Pro4

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2510 Eukaryota
ENOG410Y034 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155634

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG058196

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8NFD5

KEGG Orthology (KO)

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KOi
K11653

Identification of Orthologs from Complete Genome Data

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OMAi
HQAKSHR

Database of Orthologous Groups

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OrthoDBi
EOG091G00GP

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8NFD5

TreeFam database of animal gene trees

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TreeFami
TF320364

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.150.60, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR038040 ARID1B
IPR001606 ARID_dom
IPR036431 ARID_dom_sf
IPR021906 BAF250/Osa
IPR033388 BAF250_C

The PANTHER Classification System

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PANTHERi
PTHR12656 PTHR12656, 2 hits
PTHR12656:SF11 PTHR12656:SF11, 2 hits

Pfam protein domain database

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Pfami
View protein in Pfam
PF01388 ARID, 1 hit
PF12031 BAF250_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00501 BRIGHT, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF46774 SSF46774, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51011 ARID, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 16 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NFD5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAHNAGAAAA AGTHSAKSGG SEAALKEGGS AAALSSSSSS SAAAAAASSS
60 70 80 90 100
SSSGPGSAME TGLLPNHKLK TVGEAPAAPP HQQHHHHHHA HHHHHHAHHL
110 120 130 140 150
HHHHALQQQL NQFQQQQQQQ QQQQQQQQQQ QHPISNNNSL GGAGGGAPQP
160 170 180 190 200
GPDMEQPQHG GAKDSAAGGQ ADPPGPPLLS KPGDEDDAPP KMGEPAGGRY
210 220 230 240 250
EHPGLGALGT QQPPVAVPGG GGGPAAVPEF NNYYGSAAPA SGGPGGRAGP
260 270 280 290 300
CFDQHGGQQS PGMGMMHSAS AAAAGAPGSM DPLQNSHEGY PNSQCNHYPG
310 320 330 340 350
YSRPGAGGGG GGGGGGGGGS GGGGGGGGAG AGGAGAGAVA AAAAAAAAAA
360 370 380 390 400
GGGGGGGYGG SSAGYGVLSS PRQQGGGMMM GPGGGGAASL SKAAAGSAAG
410 420 430 440 450
GFQRFAGQNQ HPSGATPTLN QLLTSPSPMM RSYGGSYPEY SSPSAPPPPP
460 470 480 490 500
SQPQSQAAAA GAAAGGQQAA AGMGLGKDMG AQYAAASPAW AAAQQRSHPA
510 520 530 540 550
MSPGTPGPTM GRSQGSPMDP MVMKRPQLYG MGSNPHSQPQ QSSPYPGGSY
560 570 580 590 600
GPPGPQRYPI GIQGRTPGAM AGMQYPQQQM PPQYGQQGVS GYCQQGQQPY
610 620 630 640 650
YSQQPQPPHL PPQAQYLPSQ SQQRYQPQQD MSQEGYGTRS QPPLAPGKPN
660 670 680 690 700
HEDLNLIQQE RPSSLPDLSG SIDDLPTGTE ATLSSAVSAS GSTSSQGDQS
710 720 730 740 750
NPAQSPFSPH ASPHLSSIPG GPSPSPVGSP VGSNQSRSGP ISPASIPGSQ
760 770 780 790 800
MPPQPPGSQS ESSSHPALSQ SPMPQERGFM AGTQRNPQMA QYGPQQTGPS
810 820 830 840 850
MSPHPSPGGQ MHAGISSFQQ SNSSGTYGPQ MSQYGPQGNY SRPPAYSGVP
860 870 880 890 900
SASYSGPGPG MGISANNQMH GQGPSQPCGA VPLGRMPSAG MQNRPFPGNM
910 920 930 940 950
SSMTPSSPGM SQQGGPGMGP PMPTVNRKAQ EAAAAVMQAA ANSAQSRQGS
960 970 980 990 1000
FPGMNQSGLM ASSSPYSQPM NNSSSLMNTQ APPYSMAPAM VNSSAASVGL
1010 1020 1030 1040 1050
ADMMSPGESK LPLPLKADGK EEGTPQPESK SKKSSSSTTT GEKITKVYEL
1060 1070 1080 1090 1100
GNEPERKLWV DRYLTFMEER GSPVSSLPAV GKKPLDLFRL YVCVKEIGGL
1110 1120 1130 1140 1150
AQVNKNKKWR ELATNLNVGT SSSAASSLKK QYIQYLFAFE CKIERGEEPP
1160 1170 1180 1190 1200
PEVFSTGDTK KQPKLQPPSP ANSGSLQGPQ TPQSTGSNSM AEVPGDLKPP
1210 1220 1230 1240 1250
TPASTPHGQM TPMQGGRSST ISVHDPFSDV SDSSFPKRNS MTPNAPYQQG
1260 1270 1280 1290 1300
MSMPDVMGRM PYEPNKDPFG GMRKVPGSSE PFMTQGQMPN SSMQDMYNQS
1310 1320 1330 1340 1350
PSGAMSNLGM GQRQQFPYGA SYDRRHEPYG QQYPGQGPPS GQPPYGGHQP
1360 1370 1380 1390 1400
GLYPQQPNYK RHMDGMYGPP AKRHEGDMYN MQYSSQQQEM YNQYGGSYSG
1410 1420 1430 1440 1450
PDRRPIQGQY PYPYSRERMQ GPGQIQTHGI PPQMMGGPLQ SSSSEGPQQN
1460 1470 1480 1490 1500
MWAARNDMPY PYQNRQGPGG PTQAPPYPGM NRTDDMMVPD QRINHESQWP
1510 1520 1530 1540 1550
SHVSQRQPYM SSSASMQPIT RPPQPSYQTP PSLPNHISRA PSPASFQRSL
1560 1570 1580 1590 1600
ENRMSPSKSP FLPSMKMQKV MPTVPTSQVT GPPPQPPPIR REITFPPGSV
1610 1620 1630 1640 1650
EASQPVLKQR RKITSKDIVT PEAWRVMMSL KSGLLAESTW ALDTINILLY
1660 1670 1680 1690 1700
DDSTVATFNL SQLSGFLELL VEYFRKCLID IFGILMEYEV GDPSQKALDH
1710 1720 1730 1740 1750
NAARKDDSQS LADDSGKEEE DAECIDDDEE DEEDEEEDSE KTESDEKSSI
1760 1770 1780 1790 1800
ALTAPDAAAD PKEKPKQASK FDKLPIKIVK KNNLFVVDRS DKLGRVQEFN
1810 1820 1830 1840 1850
SGLLHWQLGG GDTTEHIQTH FESKMEIPPR RRPPPPLSSA GRKKEQEGKG
1860 1870 1880 1890 1900
DSEEQQEKSI IATIDDVLSA RPGALPEDAN PGPQTESSKF PFGIQQAKSH
1910 1920 1930 1940 1950
RNIKLLEDEP RSRDETPLCT IAHWQDSLAK RCICVSNIVR SLSFVPGNDA
1960 1970 1980 1990 2000
EMSKHPGLVL ILGKLILLHH EHPERKRAPQ TYEKEEDEDK GVACSKDEWW
2010 2020 2030 2040 2050
WDCLEVLRDN TLVTLANISG QLDLSAYTES ICLPILDGLL HWMVCPSAEA
2060 2070 2080 2090 2100
QDPFPTVGPN SVLSPQRLVL ETLCKLSIQD NNVDLILATP PFSRQEKFYA
2110 2120 2130 2140 2150
TLVRYVGDRK NPVCREMSMA LLSNLAQGDA LAARAIAVQK GSIGNLISFL
2160 2170 2180 2190 2200
EDGVTMAQYQ QSQHNLMHMQ PPPLEPPSVD MMCRAAKALL AMARVDENRS
2210 2220 2230
EFLLHEGRLL DISISAVLNS LVASVICDVL FQIGQL
Length:2,236
Mass (Da):236,123
Last modified:August 30, 2005 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4538B4747606C918
GO
Isoform 2 (identifier: Q8NFD5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     579-579: Q → QDSGDATWKETFWL

Show »
Length:2,249
Mass (Da):237,661
Checksum:iC7E3990BF1FD9712
GO
Isoform 3 (identifier: Q8NFD5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1032-1032: K → KDSYSSQGISQPPTPGNLPVPSPMSPSSASISSFHGDESDSISSPGWPKTPSSP

Show »
Length:2,289
Mass (Da):241,463
Checksum:i1DD3E3DB4D4BD73E
GO
Isoform 4 (identifier: Q8NFD5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-750: Missing.

Show »
Length:1,486
Mass (Da):162,470
Checksum:iD9BF024652EC0031
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 16 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y7H8H0Y7H8_HUMAN
AT-rich interactive domain-containi...
ARID1B
1,758Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GVK1A0A1B0GVK1_HUMAN
AT-rich interactive domain-containi...
ARID1B
1,539Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GWJ2A0A1B0GWJ2_HUMAN
AT-rich interactive domain-containi...
ARID1B
1,479Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTJ8A0A1B0GTJ8_HUMAN
AT-rich interactive domain-containi...
ARID1B
1,495Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GV63A0A1B0GV63_HUMAN
AT-rich interactive domain-containi...
ARID1B
1,349Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y2R3H0Y2R3_HUMAN
AT-rich interactive domain-containi...
ARID1B
727Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y3S9H0Y3S9_HUMAN
AT-rich interactive domain-containi...
ARID1B
273Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTI6A0A1B0GTI6_HUMAN
AT-rich interactive domain-containi...
ARID1B
312Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GV92A0A1B0GV92_HUMAN
AT-rich interactive domain-containi...
ARID1B
93Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GVH0A0A1B0GVH0_HUMAN
AT-rich interactive domain-containi...
ARID1B
96Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAL76077 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAN70985 differs from that shown. Reason: Frameshift at positions 857 and 863.Curated
The sequence CAA69592 differs from that shown. Reason: Frameshift at position 132.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti334 – 336AGA → SRS in AAN03447 (PubMed:12200431).Curated3
Sequence conflicti446P → A in AAN70985 (PubMed:12665591).Curated1
Sequence conflicti687V → A in AAL76077 (PubMed:11988099).Curated1
Sequence conflicti904T → P in AAL76077 (PubMed:11988099).Curated1
Sequence conflicti1201T → I in AAG36928 (PubMed:11734557).Curated1
Sequence conflicti1339P → S in AAN70985 (PubMed:12665591).Curated1
Sequence conflicti1432P → L in BAA86549 (PubMed:10574462).Curated1
Sequence conflicti1534P → S in AAN70985 (PubMed:12665591).Curated1
Sequence conflicti1713D → N in AAL76077 (PubMed:11988099).Curated1
Sequence conflicti2196D → N in AAG36928 (PubMed:11734557).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06766211A → AA1 Publication1
Natural variantiVAR_06766345 – 47Missing 1 Publication3
Natural variantiVAR_06766482Q → H1 Publication1
Natural variantiVAR_067665246G → S1 PublicationCorresponds to variant dbSNP:rs375160616EnsemblClinVar.1
Natural variantiVAR_067666318 – 319Missing 1 Publication2
Natural variantiVAR_067667319Missing 1 Publication1
Natural variantiVAR_067668327 – 328Missing 1 Publication2
Natural variantiVAR_067669333 – 337Missing 1 Publication5
Natural variantiVAR_067670363A → V1 PublicationCorresponds to variant dbSNP:rs748273011Ensembl.1
Natural variantiVAR_067671396G → A1 PublicationCorresponds to variant dbSNP:rs760718156Ensembl.1
Natural variantiVAR_067672429M → V1 PublicationCorresponds to variant dbSNP:rs199948752EnsemblClinVar.1
Natural variantiVAR_067673450P → PP1 Publication1
Natural variantiVAR_078697488P → R Found in a patient with autism; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs769085274Ensembl.1
Natural variantiVAR_067674497S → N1 PublicationCorresponds to variant dbSNP:rs764716697Ensembl.1
Natural variantiVAR_067675531M → T1 PublicationCorresponds to variant dbSNP:rs141260832EnsemblClinVar.1
Natural variantiVAR_077456771S → L Found in a patient with short stature; unknown pathological significance. 1 Publication1
Natural variantiVAR_036257814G → A in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_067676876Q → E1 PublicationCorresponds to variant dbSNP:rs138254872Ensembl.1
Natural variantiVAR_067677980Q → L1 PublicationCorresponds to variant dbSNP:rs139620600Ensembl.1
Natural variantiVAR_0676781092V → I1 PublicationCorresponds to variant dbSNP:rs775526039Ensembl.1
Natural variantiVAR_0676791249Q → P1 PublicationCorresponds to variant dbSNP:rs768013849Ensembl.1
Natural variantiVAR_0676801271G → E1 PublicationCorresponds to variant dbSNP:rs149389876Ensembl.1
Natural variantiVAR_0676811303G → R1 PublicationCorresponds to variant dbSNP:rs199674889Ensembl.1
Natural variantiVAR_0676821321S → N1 PublicationCorresponds to variant dbSNP:rs142808724Ensembl.1
Natural variantiVAR_0676831411P → S1 Publication1
Natural variantiVAR_0786981413P → S Found in a patient with autism; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1051017338Ensembl.1
Natural variantiVAR_0774571436G → A Probable disease-associated mutation found in a patient with short stature; de novo mutation. 1 Publication1
Natural variantiVAR_0676841466Q → K1 Publication1
Natural variantiVAR_0676851506R → H1 Publication1
Natural variantiVAR_0774581563P → L Found in a patient with short stature; unknown pathological significance. 1 Publication1
Natural variantiVAR_0676861573T → M1 PublicationCorresponds to variant dbSNP:rs777745107Ensembl.1
Natural variantiVAR_0676871659N → S1 PublicationCorresponds to variant dbSNP:rs140177120Ensembl.1
Natural variantiVAR_0676881733Missing 1 Publication1
Natural variantiVAR_0676891773K → R1 PublicationCorresponds to variant dbSNP:rs574141489Ensembl.1
Natural variantiVAR_0676901851D → N1 PublicationCorresponds to variant dbSNP:rs200305796Ensembl.1
Natural variantiVAR_0676911898K → R1 PublicationCorresponds to variant dbSNP:rs758204258Ensembl.1
Natural variantiVAR_0676921954K → R1 PublicationCorresponds to variant dbSNP:rs756220726Ensembl.1
Natural variantiVAR_0774591987D → Y Probable disease-associated mutation found in a patient with short stature; de novo mutation. 1 Publication1
Natural variantiVAR_0676932163Q → R1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0408001 – 750Missing in isoform 4. 1 PublicationAdd BLAST750
Alternative sequenceiVSP_015226579Q → QDSGDATWKETFWL in isoform 2. 1 Publication1
Alternative sequenceiVSP_0152271032K → KDSYSSQGISQPPTPGNLPV PSPMSPSSASISSFHGDESD SISSPGWPKTPSSP in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF259792 mRNA Translation: AAG36928.1
AL049820 Genomic DNA No translation available.
AL162578 Genomic DNA No translation available.
AL355297 Genomic DNA No translation available.
AL591545 Genomic DNA No translation available.
AJ001216 Genomic DNA No translation available.
Y08266 mRNA Translation: CAA69592.1 Frameshift.
AF521671 mRNA Translation: AAN03447.1
AF253515 mRNA Translation: AAN70985.1 Sequence problems.
AF468300 mRNA Translation: AAL76077.1 Different initiation.
AB033061 mRNA Translation: BAA86549.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS5251.2 [Q8NFD5-1]
CCDS55072.1 [Q8NFD5-2]
CCDS87459.1 [Q8NFD5-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001333742.1, NM_001346813.1 [Q8NFD5-3]
NP_059989.2, NM_017519.2 [Q8NFD5-1]
NP_065783.3, NM_020732.3 [Q8NFD5-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.291587
Hs.744461

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000350026; ENSP00000055163; ENSG00000049618 [Q8NFD5-1]
ENST00000636930; ENSP00000490491; ENSG00000049618 [Q8NFD5-3]
ENST00000637810; ENSP00000489636; ENSG00000049618 [Q8NFD5-4]
ENST00000647938; ENSP00000498155; ENSG00000049618 [Q8NFD5-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
57492

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:57492

UCSC genome browser

More...
UCSCi
uc003qqo.4 human [Q8NFD5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism, Triplet repeat expansion

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF259792 mRNA Translation: AAG36928.1
AL049820 Genomic DNA No translation available.
AL162578 Genomic DNA No translation available.
AL355297 Genomic DNA No translation available.
AL591545 Genomic DNA No translation available.
AJ001216 Genomic DNA No translation available.
Y08266 mRNA Translation: CAA69592.1 Frameshift.
AF521671 mRNA Translation: AAN03447.1
AF253515 mRNA Translation: AAN70985.1 Sequence problems.
AF468300 mRNA Translation: AAL76077.1 Different initiation.
AB033061 mRNA Translation: BAA86549.1
CCDSiCCDS5251.2 [Q8NFD5-1]
CCDS55072.1 [Q8NFD5-2]
CCDS87459.1 [Q8NFD5-3]
RefSeqiNP_001333742.1, NM_001346813.1 [Q8NFD5-3]
NP_059989.2, NM_017519.2 [Q8NFD5-1]
NP_065783.3, NM_020732.3 [Q8NFD5-2]
UniGeneiHs.291587
Hs.744461

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CXYX-ray1.60A1041-1159[»]
2EH9X-ray2.00A1041-1159[»]
ProteinModelPortaliQ8NFD5
SMRiQ8NFD5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121559, 46 interactors
ComplexPortaliCPX-1205 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA2 variant
CPX-1206 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant
CPX-1210 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant
CPX-1211 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant
CPX-1213 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
CPX-1215 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
CPX-1217 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
CPX-1218 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
CPX-1220 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
CPX-1221 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
CPX-1223 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA2 variant
CPX-1224 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant
CPX-1227 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant
CPX-1228 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant
CORUMiQ8NFD5
IntActiQ8NFD5, 23 interactors
MINTiQ8NFD5
STRINGi9606.ENSP00000344546

PTM databases

iPTMnetiQ8NFD5
PhosphoSitePlusiQ8NFD5

Polymorphism and mutation databases

BioMutaiARID1B
DMDMi73921720

Proteomic databases

EPDiQ8NFD5
MaxQBiQ8NFD5
PaxDbiQ8NFD5
PeptideAtlasiQ8NFD5
PRIDEiQ8NFD5
ProteomicsDBi73289
73290 [Q8NFD5-2]
73291 [Q8NFD5-3]
73292 [Q8NFD5-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000350026; ENSP00000055163; ENSG00000049618 [Q8NFD5-1]
ENST00000636930; ENSP00000490491; ENSG00000049618 [Q8NFD5-3]
ENST00000637810; ENSP00000489636; ENSG00000049618 [Q8NFD5-4]
ENST00000647938; ENSP00000498155; ENSG00000049618 [Q8NFD5-2]
GeneIDi57492
KEGGihsa:57492
UCSCiuc003qqo.4 human [Q8NFD5-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
57492
DisGeNETi57492
EuPathDBiHostDB:ENSG00000049618.21

GeneCards: human genes, protein and diseases

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GeneCardsi
ARID1B
GeneReviewsiARID1B

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0006320
HIX0165033
HGNCiHGNC:18040 ARID1B
HPAiHPA016511
HPA075291
MalaCardsiARID1B
MIMi135900 phenotype
614556 gene
neXtProtiNX_Q8NFD5
OpenTargetsiENSG00000049618
Orphaneti251056 6q25 microdeletion syndrome
1465 Coffin-Siris syndrome
PharmGKBiPA134909463

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2510 Eukaryota
ENOG410Y034 LUCA
GeneTreeiENSGT00940000155634
HOVERGENiHBG058196
InParanoidiQ8NFD5
KOiK11653
OMAiHQAKSHR
OrthoDBiEOG091G00GP
PhylomeDBiQ8NFD5
TreeFamiTF320364

Enzyme and pathway databases

ReactomeiR-HSA-3214858 RMTs methylate histone arginines
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
SIGNORiQ8NFD5

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ARID1B human
EvolutionaryTraceiQ8NFD5

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ARID1B

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
57492

Protein Ontology

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PROi
PR:Q8NFD5

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000049618 Expressed in 217 organ(s), highest expression level in female reproductive system
CleanExiHS_ARID1B
ExpressionAtlasiQ8NFD5 baseline and differential
GenevisibleiQ8NFD5 HS

Family and domain databases

Gene3Di1.10.150.60, 1 hit
InterProiView protein in InterPro
IPR038040 ARID1B
IPR001606 ARID_dom
IPR036431 ARID_dom_sf
IPR021906 BAF250/Osa
IPR033388 BAF250_C
PANTHERiPTHR12656 PTHR12656, 2 hits
PTHR12656:SF11 PTHR12656:SF11, 2 hits
PfamiView protein in Pfam
PF01388 ARID, 1 hit
PF12031 BAF250_C, 1 hit
SMARTiView protein in SMART
SM00501 BRIGHT, 1 hit
SUPFAMiSSF46774 SSF46774, 1 hit
PROSITEiView protein in PROSITE
PS51011 ARID, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiARI1B_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8NFD5
Secondary accession number(s): Q5JRD1
, Q5VYC4, Q8IZY8, Q8TEV0, Q8TF02, Q99491, Q9ULI5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: August 30, 2005
Last modified: December 5, 2018
This is version 165 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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