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Protein

Transcription activator BRG1

Gene

SMARCA4

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. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating the calcium-dependent release of a repressor complex and the recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by SMARCA4-dependent recruitment of a phospho-RB1-HDAC repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves the release of HDAC1 and recruitment of CREBBP. 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. SMARCA4/BAF190A may promote neural stem cell self-renewal/proliferation by enhancing Notch-dependent proliferative signals, while concurrently making the neural stem cell insensitive to SHH-dependent differentiating cues (By similarity). Acts as a corepressor of ZEB1 to regulate E-cadherin transcription and is required for induction of epithelial-mesenchymal transition (EMT) by ZEB1. Binds via DLX1 to enhancers located in the intergenic region between DLX5 and DLX6 and this binding is stabilized by the long non-coding RNA (lncRNA) Evf2 (By similarity). Binds to RNA in a promiscuous manner (By similarity). Binding to RNAs including lncRNA Evf2 leads to inhibition of SMARCA4 ATPase and chromatin remodeling activities (By similarity).2 PublicationsBy similarity3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei1539 – 1540Required for binding to 'Lys-15'-acetylated histone 32

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi779 – 786ATPPROSITE-ProRule annotation8

<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

  • androgen receptor binding Source: BHF-UCL
  • ATP binding Source: UniProtKB-KW
  • DNA-dependent ATPase activity Source: BHF-UCL
  • DNA polymerase binding Source: BHF-UCL
  • helicase activity Source: ProtInc
  • lysine-acetylated histone binding Source: BHF-UCL
  • p53 binding Source: BHF-UCL
  • protein N-terminus binding Source: UniProtKB
  • RNA binding Source: UniProtKB-KW
  • RNA polymerase I CORE element sequence-specific DNA binding Source: UniProtKB
  • Tat protein binding Source: BHF-UCL
  • transcription coactivator activity Source: BHF-UCL
  • transcription corepressor activity Source: UniProtKB
  • transcription factor binding 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 functionActivator, Chromatin regulator, Helicase, Hydrolase, Repressor, RNA-binding
Biological processNeurogenesis, Transcription, Transcription regulation
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

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BRENDAi
3.6.4.11 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1266695 Interleukin-7 signaling
R-HSA-201722 Formation of the beta-catenin:TCF transactivating complex
R-HSA-3214858 RMTs methylate histone arginines
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P51532

SIGNOR Signaling Network Open Resource

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SIGNORi
P51532

<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:
Transcription activator BRG1 (EC:3.6.4.-)
Alternative name(s):
ATP-dependent helicase SMARCA4
BRG1-associated factor 190A
Short name:
BAF190A
Mitotic growth and transcription activator
Protein BRG-1
Protein brahma homolog 1
SNF2-beta
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4
<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:SMARCA4
Synonyms:BAF190A, BRG1, SNF2B, SNF2L4
<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 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000127616.17

Human Gene Nomenclature Database

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HGNCi
HGNC:11100 SMARCA4

Online Mendelian Inheritance in Man (OMIM)

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MIMi
603254 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P51532

<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

Rhabdoid tumor predisposition syndrome 2 (RTPS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood.
See also OMIM:613325
Coffin-Siris syndrome 4 (CSS4)1 Publication
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:614609
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_068209546Missing in CSS4. 1 Publication1
Natural variantiVAR_068210859T → M in CSS4. 1 PublicationCorresponds to variant dbSNP:rs281875226EnsemblClinVar.1
Natural variantiVAR_068211885R → C in CSS4. 1 PublicationCorresponds to variant dbSNP:rs281875227EnsemblClinVar.1
Natural variantiVAR_068212921L → F in CSS4. 1 PublicationCorresponds to variant dbSNP:rs281875228EnsemblClinVar.1
Natural variantiVAR_0682131011M → T in CSS4. 1 PublicationCorresponds to variant dbSNP:rs281875229EnsemblClinVar.1
Natural variantiVAR_0682141157R → G in CSS4. 1 PublicationCorresponds to variant dbSNP:rs281875230EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi1484V → A: No effect on binding to 'Lys-15'-acetylated histone H3. 1 Publication1
Mutagenesisi1539F → A: Abolishes binding to 'Lys-15'-acetylated histone H3. 1 Publication1
Mutagenesisi1540N → A: Abolishes binding to 'Lys-15'-acetylated histone H3. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

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DisGeNETi
6597

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

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GeneReviewsi
SMARCA4

MalaCards human disease database

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MalaCardsi
SMARCA4
MIMi613325 phenotype
614609 phenotype

Open Targets

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OpenTargetsi
ENSG00000127616

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

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Orphaneti
1465 Coffin-Siris syndrome
231108 Familial rhabdoid tumor
370396 Small cell carcinoma of the ovary
466962 SMARCA4-deficient sarcoma of thorax

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA35950

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL3085620

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
2740

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
SMARCA4

Domain mapping of disease mutations (DMDM)

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DMDMi
116242792

<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 ‘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_00000743531 – 1647Transcription activator BRG1Add BLAST1647

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 residuei11PhosphothreonineCombined sources1
Modified residuei188N6-acetyllysineCombined sources1
Modified residuei353PhosphothreonineCombined sources1
Modified residuei609PhosphothreonineCombined sources1
Modified residuei610PhosphoserineCombined sources1
Modified residuei613PhosphoserineCombined sources1
Modified residuei626N6-acetyllysineBy similarity1
Modified residuei695PhosphoserineCombined sources1
Modified residuei699PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki1365Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1382PhosphoserineCombined sources1
Modified residuei1423PhosphothreonineBy similarity1
Modified residuei1452PhosphoserineCombined sources1
Modified residuei1570PhosphoserineCombined sources1
Modified residuei1575PhosphoserineCombined sources1
Modified residuei1586PhosphoserineCombined sources1
Modified residuei1627PhosphoserineCombined sources1
Modified residuei1631PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P51532

MaxQB - The MaxQuant DataBase

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MaxQBi
P51532

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

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PaxDbi
P51532

PeptideAtlas

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PeptideAtlasi
P51532

PRoteomics IDEntifications database

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PRIDEi
P51532

ProteomicsDB human proteome resource

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ProteomicsDBi
56327
56328 [P51532-2]
56329 [P51532-3]
56330 [P51532-4]
56331 [P51532-5]

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
P51532

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P51532

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

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PhosphoSitePlusi
P51532

SwissPalm database of S-palmitoylation events

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SwissPalmi
P51532

<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

Colocalizes with ZEB1 in E-cadherin-negative cells from established lines, and stroma of normal colon as well as in de-differentiated epithelial cells at the invasion front of colorectal carcinomas (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000127616 Expressed in 229 organ(s), highest expression level in tendon of biceps brachii

CleanEx database of gene expression profiles

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CleanExi
HS_SMARCA4

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P51532 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P51532 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB004208

<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 the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. 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 developmental- and tissue-specific combinations (PubMed:22952240, PubMed:26601204). Component of the BAF 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. In muscle cells, the BAF complex also contains DPF3 (PubMed:18765789). 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. Component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin (PubMed:26601204). Component of SWI/SNF (GBAF) subcomplex, which includes at least BICRA or BICRAL (mutually exclusive), BRD9, SS18, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, SMARCC1/BAF155, and SMARCD1/BAF60A (PubMed:29374058). Component of the BAF53 complex, at least composed of BAF53A, RUVBL1, SMARCA4/BRG1/BAF190A, and TRRAP, which preferentially acetylates histone H4 (and H2A) within nucleosomes (PubMed:11839798). Component of the CREST-BRG1 complex, at least composed of SMARCA4/BRG1/BAF190A, SS18L1/CREST, HDAC1, RB1 and SP1 (By similarity). Interacts with PHF10/BAF45A (By similarity). Interacts with MYOG (By similarity). Interacts directly with IKFZ1; the interaction associates IKFZ1 with the BAF complex (PubMed:10204490). Interacts with ZEB1 (via N-terminus) (PubMed:20418909). Interacts with NR3C1, PGR, SMARD1, TOPBP1 and ZMIM2/ZIMP7 (PubMed:9590696, PubMed:12917342, PubMed:15075294, PubMed:16051670). Interacts with (via the bromodomain) with TERT; the interaction regulates Wnt-mediated signaling (PubMed:19571879). Interacts with TBX21 in a KDM6B-dependent manner (By similarity). Interacts with KDM6A and KDM6B (By similarity). Interacts with HNRNPU; this interaction occurs in embryonic stem cells and stimulates global Pol II-mediated transcription (By similarity). Interacts with ACTL6A (PubMed:28649782). Interacts with DLX1 (By similarity). Interacts with DPF2 (PubMed:20460684).2 PublicationsBy similarity14 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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112481, 229 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1195 Embryonic stem cell-specific SWI/SNF ATP-dependent chromatin remodeling complex
CPX-1196 Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B variant
CPX-1199 Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A variant
CPX-1204 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA4 variant
CPX-1206 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant
CPX-1209 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant
CPX-1211 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant
CPX-1212 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant
CPX-1215 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
CPX-1216 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant
CPX-1218 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
CPX-1219 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant
CPX-1221 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
CPX-1222 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA4 variant
CPX-1224 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant
CPX-1226 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 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
P51532

Database of interacting proteins

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DIPi
DIP-24249N

Protein interaction database and analysis system

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IntActi
P51532, 91 interactors

Molecular INTeraction database

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MINTi
P51532

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000350720

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P51532

<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

11647
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P51532

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

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SMRi
P51532

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

More...
EvolutionaryTracei
P51532

<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>Domaini171 – 206QLQPROSITE-ProRule annotationAdd BLAST36
Domaini460 – 532HSAPROSITE-ProRule annotationAdd BLAST73
Domaini766 – 931Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST166
Domaini1084 – 1246Helicase C-terminalPROSITE-ProRule annotationAdd BLAST163
Domaini1477 – 1547BromoPROSITE-ProRule annotationAdd BLAST71

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 282Necessary for interaction with SS18L1/CRESTBy similarityAdd BLAST282
Regioni462 – 728RNA-binding region which is sufficient for binding to lncRNA Evf2By similarityAdd BLAST267
Regioni837 – 916Sufficient for interaction with DLX1By similarityAdd BLAST80
Regioni1247 – 1446Sufficient for interaction with DLX1By similarityAdd BLAST200

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>Motifi881 – 884DEGH box4

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 biasi578 – 588Poly-LysAdd BLAST11
Compositional biasi663 – 672Poly-Glu10
Compositional biasi1360 – 1364Poly-Glu5
Compositional biasi1571 – 1584Poly-GluAdd BLAST14

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the SNF2/RAD54 helicase family.Curated

Keywords - Domaini

Bromodomain

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0386 Eukaryota
COG0553 LUCA
COG5076 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156887

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000172363

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG056636

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P51532

KEGG Orthology (KO)

More...
KOi
K11647

Database for complete collections of gene phylogenies

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PhylomeDBi
P51532

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00079 HELICc, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.920.10, 1 hit
2.20.28.130, 1 hit
3.40.50.10810, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR030100 BRG1
IPR006576 BRK_domain
IPR037259 BRK_sf
IPR001487 Bromodomain
IPR036427 Bromodomain-like_sf
IPR018359 Bromodomain_CS
IPR014978 Gln-Leu-Gln_QLQ
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR014012 HSA_dom
IPR027417 P-loop_NTPase
IPR029295 SnAC
IPR038718 SNF2-like_sf
IPR000330 SNF2_N

The PANTHER Classification System

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PANTHERi
PTHR10799:SF76 PTHR10799:SF76, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07533 BRK, 1 hit
PF00439 Bromodomain, 1 hit
PF00271 Helicase_C, 1 hit
PF07529 HSA, 1 hit
PF08880 QLQ, 1 hit
PF14619 SnAC, 1 hit
PF00176 SNF2_N, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00503 BROMODOMAIN

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00592 BRK, 1 hit
SM00297 BROMO, 1 hit
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SM00573 HSA, 1 hit
SM00951 QLQ, 1 hit
SM01314 SnAC, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF160481 SSF160481, 1 hit
SSF47370 SSF47370, 1 hit
SSF52540 SSF52540, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00633 BROMODOMAIN_1, 1 hit
PS50014 BROMODOMAIN_2, 1 hit
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
PS51204 HSA, 1 hit
PS51666 QLQ, 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 (5+)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.

This entry describes 5 <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 5 described isoforms and 29 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P51532-1) [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
MSTPDPPLGG TPRPGPSPGP GPSPGAMLGP SPGPSPGSAH SMMGPSPGPP
60 70 80 90 100
SAGHPIPTQG PGGYPQDNMH QMHKPMESMH EKGMSDDPRY NQMKGMGMRS
110 120 130 140 150
GGHAGMGPPP SPMDQHSQGY PSPLGGSEHA SSPVPASGPS SGPQMSSGPG
160 170 180 190 200
GAPLDGADPQ ALGQQNRGPT PFNQNQLHQL RAQIMAYKML ARGQPLPDHL
210 220 230 240 250
QMAVQGKRPM PGMQQQMPTL PPPSVSATGP GPGPGPGPGP GPGPAPPNYS
260 270 280 290 300
RPHGMGGPNM PPPGPSGVPP GMPGQPPGGP PKPWPEGPMA NAAAPTSTPQ
310 320 330 340 350
KLIPPQPTGR PSPAPPAVPP AASPVMPPQT QSPGQPAQPA PMVPLHQKQS
360 370 380 390 400
RITPIQKPRG LDPVEILQER EYRLQARIAH RIQELENLPG SLAGDLRTKA
410 420 430 440 450
TIELKALRLL NFQRQLRQEV VVCMRRDTAL ETALNAKAYK RSKRQSLREA
460 470 480 490 500
RITEKLEKQQ KIEQERKRRQ KHQEYLNSIL QHAKDFKEYH RSVTGKIQKL
510 520 530 540 550
TKAVATYHAN TEREQKKENE RIEKERMRRL MAEDEEGYRK LIDQKKDKRL
560 570 580 590 600
AYLLQQTDEY VANLTELVRQ HKAAQVAKEK KKKKKKKKAE NAEGQTPAIG
610 620 630 640 650
PDGEPLDETS QMSDLPVKVI HVESGKILTG TDAPKAGQLE AWLEMNPGYE
660 670 680 690 700
VAPRSDSEES GSEEEEEEEE EEQPQAAQPP TLPVEEKKKI PDPDSDDVSE
710 720 730 740 750
VDARHIIENA KQDVDDEYGV SQALARGLQS YYAVAHAVTE RVDKQSALMV
760 770 780 790 800
NGVLKQYQIK GLEWLVSLYN NNLNGILADE MGLGKTIQTI ALITYLMEHK
810 820 830 840 850
RINGPFLIIV PLSTLSNWAY EFDKWAPSVV KVSYKGSPAA RRAFVPQLRS
860 870 880 890 900
GKFNVLLTTY EYIIKDKHIL AKIRWKYMIV DEGHRMKNHH CKLTQVLNTH
910 920 930 940 950
YVAPRRLLLT GTPLQNKLPE LWALLNFLLP TIFKSCSTFE QWFNAPFAMT
960 970 980 990 1000
GEKVDLNEEE TILIIRRLHK VLRPFLLRRL KKEVEAQLPE KVEYVIKCDM
1010 1020 1030 1040 1050
SALQRVLYRH MQAKGVLLTD GSEKDKKGKG GTKTLMNTIM QLRKICNHPY
1060 1070 1080 1090 1100
MFQHIEESFS EHLGFTGGIV QGLDLYRASG KFELLDRILP KLRATNHKVL
1110 1120 1130 1140 1150
LFCQMTSLMT IMEDYFAYRG FKYLRLDGTT KAEDRGMLLK TFNEPGSEYF
1160 1170 1180 1190 1200
IFLLSTRAGG LGLNLQSADT VIIFDSDWNP HQDLQAQDRA HRIGQQNEVR
1210 1220 1230 1240 1250
VLRLCTVNSV EEKILAAAKY KLNVDQKVIQ AGMFDQKSSS HERRAFLQAI
1260 1270 1280 1290 1300
LEHEEQDESR HCSTGSGSAS FAHTAPPPAG VNPDLEEPPL KEEDEVPDDE
1310 1320 1330 1340 1350
TVNQMIARHE EEFDLFMRMD LDRRREEARN PKRKPRLMEE DELPSWIIKD
1360 1370 1380 1390 1400
DAEVERLTCE EEEEKMFGRG SRHRKEVDYS DSLTEKQWLK AIEEGTLEEI
1410 1420 1430 1440 1450
EEEVRQKKSS RKRKRDSDAG SSTPTTSTRS RDKDDESKKQ KKRGRPPAEK
1460 1470 1480 1490 1500
LSPNPPNLTK KMKKIVDAVI KYKDSSSGRQ LSEVFIQLPS RKELPEYYEL
1510 1520 1530 1540 1550
IRKPVDFKKI KERIRNHKYR SLNDLEKDVM LLCQNAQTFN LEGSLIYEDS
1560 1570 1580 1590 1600
IVLQSVFTSV RQKIEKEDDS EGEESEEEEE GEEEGSESES RSVKVKIKLG
1610 1620 1630 1640
RKEKAQDRLK GGRRRPSRGS RAKPVVSDDD SEEEQEEDRS GSGSEED
Length:1,647
Mass (Da):184,646
Last modified:October 17, 2006 - 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:iABDA5EDBF10D7D28
GO
Isoform 2 (identifier: P51532-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1259-1291: Missing.

Note: No experimental confirmation available.
Show »
Length:1,614
Mass (Da):181,348
Checksum:iCB7C83C8DC7109CA
GO
Isoform 3 (identifier: P51532-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1259-1291: Missing.
     1388-1388: W → WLKT
     1475-1475: Missing.

Show »
Length:1,616
Mass (Da):181,603
Checksum:i94455AEA6678D1CC
GO
Isoform 4 (identifier: P51532-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1259-1291: Missing.
     1388-1388: W → WLKT

Show »
Length:1,617
Mass (Da):181,690
Checksum:i33F65B2C4F6CCCEC
GO
Isoform 5 (identifier: P51532-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1259-1291: Missing.
     1475-1475: Missing.

Show »
Length:1,613
Mass (Da):181,261
Checksum:i9E9DBE797BBDF774
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 29 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q9HBD4Q9HBD4_HUMAN
SMARCA4 isoform 2
SMARCA4 hCG_29955
1,679Annotation 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>
A0A0A0MT49A0A0A0MT49_HUMAN
Transcription activator BRG1
SMARCA4
1,681Annotation 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>
A0A2R8Y7S2A0A2R8Y7S2_HUMAN
Transcription activator BRG1
SMARCA4
1,646Annotation 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>
A0A2R8Y4P4A0A2R8Y4P4_HUMAN
Transcription activator BRG1
SMARCA4
1,649Annotation 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>
A0A2R8YG32A0A2R8YG32_HUMAN
Transcription activator BRG1
SMARCA4
1,198Annotation 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>
A0A2R8Y7Y7A0A2R8Y7Y7_HUMAN
Transcription activator BRG1
SMARCA4
1,081Annotation 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>
A0A2R8YGG3A0A2R8YGG3_HUMAN
Transcription activator BRG1
SMARCA4
1,455Annotation 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>
A0A2R8Y7F3A0A2R8Y7F3_HUMAN
Transcription activator BRG1
SMARCA4
1,165Annotation 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>
A0A2R8YF58A0A2R8YF58_HUMAN
Transcription activator BRG1
SMARCA4
1,065Annotation 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>
A0A2R8Y6N0A0A2R8Y6N0_HUMAN
Transcription activator BRG1
SMARCA4
1,145Annotation 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

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 conflicti569R → P in AAB40977 (PubMed:8232556).Curated1
Sequence conflicti569R → P in BAA05143 (PubMed:8208605).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068209546Missing in CSS4. 1 Publication1
Natural variantiVAR_028215561V → E. Corresponds to variant dbSNP:rs1804579Ensembl.1
Natural variantiVAR_068210859T → M in CSS4. 1 PublicationCorresponds to variant dbSNP:rs281875226EnsemblClinVar.1
Natural variantiVAR_068211885R → C in CSS4. 1 PublicationCorresponds to variant dbSNP:rs281875227EnsemblClinVar.1
Natural variantiVAR_068212921L → F in CSS4. 1 PublicationCorresponds to variant dbSNP:rs281875228EnsemblClinVar.1
Natural variantiVAR_0682131011M → T in CSS4. 1 PublicationCorresponds to variant dbSNP:rs281875229EnsemblClinVar.1
Natural variantiVAR_0282161036M → I. Corresponds to variant dbSNP:rs1801514Ensembl.1
Natural variantiVAR_0682141157R → G in CSS4. 1 PublicationCorresponds to variant dbSNP:rs281875230EnsemblClinVar.1

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_0431371259 – 1291Missing in isoform 2, isoform 3, isoform 4 and isoform 5. 1 PublicationAdd BLAST33
Alternative sequenceiVSP_0436771388W → WLKT in isoform 3 and isoform 4. 1 Publication1
Alternative sequenceiVSP_0436781475Missing in isoform 3 and isoform 5. 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
U29175 mRNA Translation: AAB40977.1
D26156 mRNA Translation: BAA05143.1
AF254822 Genomic DNA Translation: AAG24789.1
EU430756 mRNA Translation: ACA09750.1
EU430757 mRNA Translation: ACA09751.1
EU430758 mRNA Translation: ACA09752.1
EU430759 mRNA Translation: ACA09753.1
AC006127 Genomic DNA Translation: AAC97986.1
AC006127 Genomic DNA Translation: AAC97987.1
AC011442 Genomic DNA No translation available.
AC011485 Genomic DNA No translation available.
CH471106 Genomic DNA Translation: EAW84167.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12253.1 [P51532-1]
CCDS45972.1 [P51532-4]
CCDS45973.1 [P51532-3]
CCDS54217.1 [P51532-2]
CCDS54218.1 [P51532-5]

Protein sequence database of the Protein Information Resource

More...
PIRi
S45252

NCBI Reference Sequences

More...
RefSeqi
NP_001122316.1, NM_001128844.1 [P51532-1]
NP_001122317.1, NM_001128845.1 [P51532-4]
NP_001122318.1, NM_001128846.1 [P51532-3]
NP_001122319.1, NM_001128847.1 [P51532-2]
NP_001122320.1, NM_001128848.1 [P51532-5]
NP_003063.2, NM_003072.3 [P51532-1]
XP_016882654.1, XM_017027165.1
XP_016882655.1, XM_017027166.1
XP_016882656.1, XM_017027167.1
XP_016882657.1, XM_017027168.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.327527

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000344626; ENSP00000343896; ENSG00000127616 [P51532-1]
ENST00000429416; ENSP00000395654; ENSG00000127616 [P51532-1]
ENST00000444061; ENSP00000392837; ENSG00000127616 [P51532-5]
ENST00000541122; ENSP00000445036; ENSG00000127616 [P51532-4]
ENST00000589677; ENSP00000464778; ENSG00000127616 [P51532-3]
ENST00000590574; ENSP00000466963; ENSG00000127616 [P51532-2]
ENST00000643296; ENSP00000496635; ENSG00000127616 [P51532-4]
ENST00000644737; ENSP00000495548; ENSG00000127616 [P51532-4]
ENST00000645460; ENSP00000494463; ENSG00000127616 [P51532-5]
ENST00000646484; ENSP00000495536; ENSG00000127616 [P51532-2]
ENST00000646510; ENSP00000494772; ENSG00000127616 [P51532-2]
ENST00000647230; ENSP00000494676; ENSG00000127616 [P51532-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6597

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6597

UCSC genome browser

More...
UCSCi
uc002mqf.5 human [P51532-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Mendelian genes SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U29175 mRNA Translation: AAB40977.1
D26156 mRNA Translation: BAA05143.1
AF254822 Genomic DNA Translation: AAG24789.1
EU430756 mRNA Translation: ACA09750.1
EU430757 mRNA Translation: ACA09751.1
EU430758 mRNA Translation: ACA09752.1
EU430759 mRNA Translation: ACA09753.1
AC006127 Genomic DNA Translation: AAC97986.1
AC006127 Genomic DNA Translation: AAC97987.1
AC011442 Genomic DNA No translation available.
AC011485 Genomic DNA No translation available.
CH471106 Genomic DNA Translation: EAW84167.1
CCDSiCCDS12253.1 [P51532-1]
CCDS45972.1 [P51532-4]
CCDS45973.1 [P51532-3]
CCDS54217.1 [P51532-2]
CCDS54218.1 [P51532-5]
PIRiS45252
RefSeqiNP_001122316.1, NM_001128844.1 [P51532-1]
NP_001122317.1, NM_001128845.1 [P51532-4]
NP_001122318.1, NM_001128846.1 [P51532-3]
NP_001122319.1, NM_001128847.1 [P51532-2]
NP_001122320.1, NM_001128848.1 [P51532-5]
NP_003063.2, NM_003072.3 [P51532-1]
XP_016882654.1, XM_017027165.1
XP_016882655.1, XM_017027166.1
XP_016882656.1, XM_017027167.1
XP_016882657.1, XM_017027168.1
UniGeneiHs.327527

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2GRCX-ray1.50A1448-1575[»]
2H60NMR-A1452-1570[»]
3UVDX-ray1.85A1448-1569[»]
5DKDX-ray2.00A/B1451-1569[»]
5EA1X-ray2.00A/B/C1451-1580[»]
6BGHNMR-B1591-1602[»]
ProteinModelPortaliP51532
SMRiP51532
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112481, 229 interactors
ComplexPortaliCPX-1195 Embryonic stem cell-specific SWI/SNF ATP-dependent chromatin remodeling complex
CPX-1196 Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B variant
CPX-1199 Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A variant
CPX-1204 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA4 variant
CPX-1206 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant
CPX-1209 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant
CPX-1211 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant
CPX-1212 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant
CPX-1215 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
CPX-1216 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant
CPX-1218 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
CPX-1219 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant
CPX-1221 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
CPX-1222 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA4 variant
CPX-1224 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant
CPX-1226 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant
CPX-1228 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant
CORUMiP51532
DIPiDIP-24249N
IntActiP51532, 91 interactors
MINTiP51532
STRINGi9606.ENSP00000350720

Chemistry databases

BindingDBiP51532
ChEMBLiCHEMBL3085620
GuidetoPHARMACOLOGYi2740

PTM databases

CarbonylDBiP51532
iPTMnetiP51532
PhosphoSitePlusiP51532
SwissPalmiP51532

Polymorphism and mutation databases

BioMutaiSMARCA4
DMDMi116242792

Proteomic databases

EPDiP51532
MaxQBiP51532
PaxDbiP51532
PeptideAtlasiP51532
PRIDEiP51532
ProteomicsDBi56327
56328 [P51532-2]
56329 [P51532-3]
56330 [P51532-4]
56331 [P51532-5]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000344626; ENSP00000343896; ENSG00000127616 [P51532-1]
ENST00000429416; ENSP00000395654; ENSG00000127616 [P51532-1]
ENST00000444061; ENSP00000392837; ENSG00000127616 [P51532-5]
ENST00000541122; ENSP00000445036; ENSG00000127616 [P51532-4]
ENST00000589677; ENSP00000464778; ENSG00000127616 [P51532-3]
ENST00000590574; ENSP00000466963; ENSG00000127616 [P51532-2]
ENST00000643296; ENSP00000496635; ENSG00000127616 [P51532-4]
ENST00000644737; ENSP00000495548; ENSG00000127616 [P51532-4]
ENST00000645460; ENSP00000494463; ENSG00000127616 [P51532-5]
ENST00000646484; ENSP00000495536; ENSG00000127616 [P51532-2]
ENST00000646510; ENSP00000494772; ENSG00000127616 [P51532-2]
ENST00000647230; ENSP00000494676; ENSG00000127616 [P51532-2]
GeneIDi6597
KEGGihsa:6597
UCSCiuc002mqf.5 human [P51532-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6597
DisGeNETi6597
EuPathDBiHostDB:ENSG00000127616.17

GeneCards: human genes, protein and diseases

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GeneCardsi
SMARCA4
GeneReviewsiSMARCA4
HGNCiHGNC:11100 SMARCA4
HPAiCAB004208
MalaCardsiSMARCA4
MIMi603254 gene
613325 phenotype
614609 phenotype
neXtProtiNX_P51532
OpenTargetsiENSG00000127616
Orphaneti1465 Coffin-Siris syndrome
231108 Familial rhabdoid tumor
370396 Small cell carcinoma of the ovary
466962 SMARCA4-deficient sarcoma of thorax
PharmGKBiPA35950

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0386 Eukaryota
COG0553 LUCA
COG5076 LUCA
GeneTreeiENSGT00940000156887
HOGENOMiHOG000172363
HOVERGENiHBG056636
InParanoidiP51532
KOiK11647
PhylomeDBiP51532

Enzyme and pathway databases

BRENDAi3.6.4.11 2681
ReactomeiR-HSA-1266695 Interleukin-7 signaling
R-HSA-201722 Formation of the beta-catenin:TCF transactivating complex
R-HSA-3214858 RMTs methylate histone arginines
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
SignaLinkiP51532
SIGNORiP51532

Miscellaneous databases

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

More...
ChiTaRSi
SMARCA4 human
EvolutionaryTraceiP51532

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SMARCA4

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

More...
GenomeRNAii
6597

Protein Ontology

More...
PROi
PR:P51532

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000127616 Expressed in 229 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_SMARCA4
ExpressionAtlasiP51532 baseline and differential
GenevisibleiP51532 HS

Family and domain databases

CDDicd00079 HELICc, 1 hit
Gene3Di1.20.920.10, 1 hit
2.20.28.130, 1 hit
3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR030100 BRG1
IPR006576 BRK_domain
IPR037259 BRK_sf
IPR001487 Bromodomain
IPR036427 Bromodomain-like_sf
IPR018359 Bromodomain_CS
IPR014978 Gln-Leu-Gln_QLQ
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR014012 HSA_dom
IPR027417 P-loop_NTPase
IPR029295 SnAC
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
PANTHERiPTHR10799:SF76 PTHR10799:SF76, 1 hit
PfamiView protein in Pfam
PF07533 BRK, 1 hit
PF00439 Bromodomain, 1 hit
PF00271 Helicase_C, 1 hit
PF07529 HSA, 1 hit
PF08880 QLQ, 1 hit
PF14619 SnAC, 1 hit
PF00176 SNF2_N, 1 hit
PRINTSiPR00503 BROMODOMAIN
SMARTiView protein in SMART
SM00592 BRK, 1 hit
SM00297 BROMO, 1 hit
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SM00573 HSA, 1 hit
SM00951 QLQ, 1 hit
SM01314 SnAC, 1 hit
SUPFAMiSSF160481 SSF160481, 1 hit
SSF47370 SSF47370, 1 hit
SSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS00633 BROMODOMAIN_1, 1 hit
PS50014 BROMODOMAIN_2, 1 hit
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
PS51204 HSA, 1 hit
PS51666 QLQ, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<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 nameiSMCA4_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: P51532
Secondary accession number(s): B1A8Z4
, B1A8Z5, B1A8Z6, B1A8Z7, E9PBR8, O95052, Q9HBD3
<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: October 1, 1996
Last sequence update: October 17, 2006
Last modified: December 5, 2018
This is version 214 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. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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