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UniProtKB - Q969G3 (SMCE1_HUMAN)

Entry version 178 (11 Dec 2019)
Sequence version 2 (25 Oct 2004)
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Protein

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1

Gene

SMARCE1

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). Required for the coactivation of estrogen responsive promoters by SWI/SNF complexes and the SRC/p160 family of histone acetyltransferases (HATs). Also specifically interacts with the CoREST corepressor resulting in repression of neuronal specific gene promoters in non-neuronal cells.3 PublicationsBy similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi66 – 134HMG boxPROSITE-ProRule annotationAdd BLAST69

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...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

More...SIGNORi		Q969G3

<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:
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
Alternative name(s):
BRG1-associated factor 57
Short name:
BAF57
<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:SMARCE1
Synonyms:BAF57
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000073584.18

Human Gene Nomenclature Database

More...HGNCi		HGNC:11109 SMARCE1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603111 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q969G3

<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 & Seán O’Donoghue; 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

Meningioma (MNGMA)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA common neoplasm of the central nervous system derived from arachnoidal cells. The majority of meningiomas are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Most cases are sporadic. Familial occurrence of meningioma is rare.
Related information in OMIM
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_071873125 – 132EYNESMKA → GLHRFIVL in MNGMA; found in a case of childhood clear cell meningioma; associated with disease susceptibility. 1 Publication8
Coffin-Siris syndrome 5 (CSS5)2 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06821573Y → C in CSS5. 1 PublicationCorresponds to variant dbSNP:rs387906857EnsemblClinVar.1
Natural variantiVAR_07693273Y → S in CSS5. 1 PublicationCorresponds to variant dbSNP:rs387906857EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		6605

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

More...GeneReviewsi		SMARCE1

MalaCards human disease database

More...MalaCardsi		SMARCE1
MIMi607174 phenotype
616938 phenotype

Open Targets

More...OpenTargetsi		ENSG00000073584

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

More...Orphaneti		1465 Coffin-Siris syndrome
263662 Familial multiple meningioma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35959

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q969G3 Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB12695 Phenethyl Isothiocyanate

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SMARCE1

Domain mapping of disease mutations (DMDM)

More...DMDMi		61247587

<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_00000485771 – 411SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1Add BLAST411

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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-linki3Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<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 residuei4Omega-N-methylarginineCombined sources1
Modified residuei40Omega-N-methylarginineCombined sources1
Cross-linki92Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki92Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki131Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki146Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki166Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei265PhosphoserineCombined sources1
Cross-linki277Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated by TRIP12, leading to its degradation by the proteasome. Ubiquitination is prevented upon interaction between TRIP12 and SMARCC1.1 Publication

Keywords - PTMi

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q969G3

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q969G3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q969G3

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q969G3

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

More...PaxDbi		Q969G3

PeptideAtlas

More...PeptideAtlasi		Q969G3

PRoteomics IDEntifications database

More...PRIDEi		Q969G3

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		4071
45313
7575
75754 [Q969G3-1]
75755 [Q969G3-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q969G3

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

More...PhosphoSitePlusi		Q969G3

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000073584 Expressed in 168 organ(s), highest expression level in lung

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q969G3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q969G3 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB037318
HPA003916

<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 combinations developmentally and tissue specific (PubMed:12672490, PubMed:22952240, PubMed:26601204).

Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM/BAF190B, 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. May be a 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 (ACTB) (PubMed:22952240, PubMed:26601204).

Interacts with BRDT (By similarity). Also binds to the SRC/p160 family of histone acetyltransferases (HATs) composed of NCOA1, NCOA2, and NCOA3.

Interacts with RCOR1/CoREST, NR3C1 and ZMIM2/ZIMP7 (PubMed:12192000, PubMed:12917342, PubMed:16051670).

3 PublicationsBy similarity4 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

Show more details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		112489, 143 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-1164 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA2 variant
CPX-1194 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA2 variant
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-1201 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
CPX-1202 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
CPX-1203 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
CPX-1204 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA4 variant
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-1207 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant
CPX-1209 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-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-1212 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-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-1216 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-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-1219 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-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-1222 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-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-1225 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant
CPX-1226 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-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

More...CORUMi		Q969G3

Database of interacting proteins

More...DIPi		DIP-27614N
DIP-33041N

Protein interaction database and analysis system

More...IntActi		Q969G3, 122 interactors

Molecular INTeraction database

More...MINTi		Q969G3

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000323967

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q969G3 protein

<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

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili220 – 319Sequence analysisAdd BLAST100

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 biasi5 – 65Pro-richAdd BLAST61
Compositional biasi320 – 411Glu-richAdd BLAST92

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The HMG domain is essential for CD4 silencing and CD8 activation; mutation of this domain blocks thymus development.

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4715 Eukaryota
ENOG410Y9B3 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000003628

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000230965

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q969G3

KEGG Orthology (KO)

More...KOi		K11651

Identification of Orthologs from Complete Genome Data

More...OMAi		QMPNTTG

Database of Orthologous Groups

More...OrthoDBi		1214165at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q969G3

TreeFam database of animal gene trees

More...TreeFami		TF321146

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.30.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR030089 BAF57
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR46232 PTHR46232, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00505 HMG_box, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00398 HMG, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47095 SSF47095, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50118 HMG_BOX_2, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)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 6 <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 6 described isoforms and 19 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q969G3-1) [UniParc]FASTAAdd to basket
Also known as: BAF57

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MSKRPSYAPP PTPAPATQMP STPGFVGYNP YSHLAYNNYR LGGNPGTNSR 
        60         70         80         90        100
VTASSGITIP KPPKPPDKPL MPYMRYSRKV WDQVKASNPD LKLWEIGKII 
       110        120        130        140        150
GGMWRDLTDE EKQEYLNEYE AEKIEYNESM KAYHNSPAYL AYINAKSRAE 
       160        170        180        190        200
AALEEESRQR QSRMEKGEPY MSIQPAEDPD DYDDGFSMKH TATARFQRNH 
       210        220        230        240        250
RLISEILSES VVPDVRSVVT TARMQVLKRQ VQSLMVHQRK LEAELLQIEE 
       260        270        280        290        300
RHQEKKRKFL ESTDSFNNEL KRLCGLKVEV DMEKIAAEIA QAEEQARKRQ 
       310        320        330        340        350
EEREKEAAEQ AERSQSSIVP EEEQAANKGE EKKDDENIPM ETEETHLEET 
       360        370        380        390        400
TESQQNGEEG TSTPEDKESG QEGVDSMAEE GTSDSNTGSE SNSATVEEPP 
       410 
TDPIPEDEKK E
Length:411
Mass (Da):46,649
Last modified:October 25, 2004 - 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:i6F1C1B7917BAD506
GO
Isoform 2 (identifier: Q969G3-2) [UniParc]FASTAAdd to basket
Also known as: BAF57v

The sequence of this isoform differs from the canonical sequence as follows:
     344-363: ETHLEETTESQQNGEEGTST → KNCQLCPRKTLTSRYTDFPD
     364-411: Missing.

Show »
Length:363
Mass (Da):41,780
Checksum:iCAADA4121B64578D
GO
Isoform 3 (identifier: Q969G3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-70: Missing.

Show »
Length:341
Mass (Da):39,260
Checksum:i8E5D2873CC92A598
GO
Isoform 4 (identifier: Q969G3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     17-51: Missing.

Show »
Length:376
Mass (Da):42,836
Checksum:i945FCF2B107F5429
GO
Isoform 5 (identifier: Q969G3-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     17-51: Missing.
     344-411: ETHLEETTES...DPIPEDEKKE → KNCQLCPRKTLTSRYTDFPD

Show »
Length:328
Mass (Da):37,967
Checksum:iB87AE458E82C27A5
GO
Isoform 6 (identifier: Q969G3-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-70: Missing.
     344-411: ETHLEETTES...DPIPEDEKKE → KNCQLCPRKTLTSRYTDFPD

Show »
Length:293
Mass (Da):34,390
Checksum:iFD0A8E38AD0ADC91
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 19 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DGM3B4DGM3_HUMAN
SWI/SNF-related matrix-associated a...
SMARCE1
393Annotation 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>
J3QKX6J3QKX6_HUMAN
SWI/SNF-related matrix-associated a...
SMARCE1
135Annotation 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>
A0A2R8Y4T4A0A2R8Y4T4_HUMAN
SWI/SNF-related matrix-associated a...
SMARCE1
335Annotation 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>
A0A2R8Y765A0A2R8Y765_HUMAN
SWI/SNF-related matrix-associated a...
SMARCE1
277Annotation 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>
A0A2R8Y7I9A0A2R8Y7I9_HUMAN
SWI/SNF-related matrix-associated a...
SMARCE1
332Annotation 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>
A0A2R8Y7U4A0A2R8Y7U4_HUMAN
SWI/SNF-related matrix-associated a...
SMARCE1
297Annotation 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>
A0A2R8Y855A0A2R8Y855_HUMAN
SWI/SNF-related matrix-associated a...
SMARCE1
367Annotation 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>
A0A2R8YD78A0A2R8YD78_HUMAN
SWI/SNF-related matrix-associated a...
SMARCE1
115Annotation 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>
A0A2R8YES3A0A2R8YES3_HUMAN
SWI/SNF-related matrix-associated a...
SMARCE1
347Annotation 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>
A0A2U3TZQ7A0A2U3TZQ7_HUMAN
SWI/SNF-related matrix-associated a...
SMARCE1
311Annotation 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>
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 conflicti46G → S in AAP35840 (Ref. 3) Curated1
Sequence conflicti46G → S in AAH07082 (PubMed:15489334).Curated1
Sequence conflicti46G → S in AAH11017 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06821573Y → C in CSS5. 1 PublicationCorresponds to variant dbSNP:rs387906857EnsemblClinVar.1
Natural variantiVAR_07693273Y → S in CSS5. 1 PublicationCorresponds to variant dbSNP:rs387906857EnsemblClinVar.1
Natural variantiVAR_071873125 – 132EYNESMKA → GLHRFIVL in MNGMA; found in a case of childhood clear cell meningioma; associated with disease susceptibility. 1 Publication8

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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0476041 – 70Missing in isoform 3 and isoform 6. 2 PublicationsAdd BLAST70
Alternative sequenceiVSP_04782517 – 51Missing in isoform 4 and isoform 5. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_047826344 – 411ETHLE…DEKKE → KNCQLCPRKTLTSRYTDFPD in isoform 5 and isoform 6. 1 PublicationAdd BLAST68
Alternative sequenceiVSP_011801344 – 363ETHLE…EGTST → KNCQLCPRKTLTSRYTDFPD in isoform 2. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_011802364 – 411Missing in isoform 2. 1 PublicationAdd BLAST48

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
AF035262 Genomic DNA Translation: AAC04509.1
EU327017 mRNA Translation: ACA81391.1
EU327018 mRNA Translation: ACA81392.1
EU327019 mRNA Translation: ACA81393.1
EU327020 mRNA Translation: ACA81394.1
BT007176 mRNA Translation: AAP35840.1
AK001532 mRNA Translation: BAG50933.1
AK095047 mRNA Translation: BAG52975.1
AK294218 mRNA Translation: BAG57525.1
AC004585 Genomic DNA No translation available.
AC073508 Genomic DNA No translation available.
CH471152 Genomic DNA Translation: EAW60670.1
BC007082 mRNA Translation: AAH07082.1
BC011017 mRNA Translation: AAH11017.1
BC063700 mRNA Translation: AAH63700.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11370.1 [Q969G3-1]

NCBI Reference Sequences

More...RefSeqi		NP_003070.3, NM_003079.4 [Q969G3-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000264640; ENSP00000466608; ENSG00000073584 [Q969G3-2]
ENST00000348513; ENSP00000323967; ENSG00000073584 [Q969G3-1]
ENST00000377808; ENSP00000367039; ENSG00000073584 [Q969G3-5]
ENST00000400122; ENSP00000411607; ENSG00000073584 [Q969G3-6]
ENST00000447024; ENSP00000392958; ENSG00000073584 [Q969G3-2]
ENST00000578044; ENSP00000464511; ENSG00000073584 [Q969G3-3]
ENST00000643318; ENSP00000494771; ENSG00000073584 [Q969G3-3]
ENST00000643683; ENSP00000496094; ENSG00000073584 [Q969G3-1]
ENST00000644701; ENSP00000496097; ENSG00000073584 [Q969G3-2]
ENST00000647508; ENSP00000496445; ENSG00000073584 [Q969G3-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6605

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6605

UCSC genome browser

More...UCSCi		uc002hux.4 human [Q969G3-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AF035262 Genomic DNA Translation: AAC04509.1
EU327017 mRNA Translation: ACA81391.1
EU327018 mRNA Translation: ACA81392.1
EU327019 mRNA Translation: ACA81393.1
EU327020 mRNA Translation: ACA81394.1
BT007176 mRNA Translation: AAP35840.1
AK001532 mRNA Translation: BAG50933.1
AK095047 mRNA Translation: BAG52975.1
AK294218 mRNA Translation: BAG57525.1
AC004585 Genomic DNA No translation available.
AC073508 Genomic DNA No translation available.
CH471152 Genomic DNA Translation: EAW60670.1
BC007082 mRNA Translation: AAH07082.1
BC011017 mRNA Translation: AAH11017.1
BC063700 mRNA Translation: AAH63700.1
CCDSiCCDS11370.1 [Q969G3-1]
RefSeqiNP_003070.3, NM_003079.4 [Q969G3-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGridi112489, 143 interactors
ComplexPortaliCPX-1164 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA2 variant
CPX-1194 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA2 variant
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-1201 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
CPX-1202 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
CPX-1203 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
CPX-1204 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA4 variant
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-1207 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant
CPX-1209 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-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-1212 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-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-1216 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-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-1219 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-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-1222 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-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-1225 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant
CPX-1226 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-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
CORUMiQ969G3
DIPiDIP-27614N
DIP-33041N
IntActiQ969G3, 122 interactors
MINTiQ969G3
STRINGi9606.ENSP00000323967

Chemistry databases

DrugBankiDB12695 Phenethyl Isothiocyanate

PTM databases

iPTMnetiQ969G3
PhosphoSitePlusiQ969G3

Polymorphism and mutation databases

BioMutaiSMARCE1
DMDMi61247587

Proteomic databases

EPDiQ969G3
jPOSTiQ969G3
MassIVEiQ969G3
MaxQBiQ969G3
PaxDbiQ969G3
PeptideAtlasiQ969G3
PRIDEiQ969G3
ProteomicsDBi4071
45313
7575
75754 [Q969G3-1]
75755 [Q969G3-2]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		Q969G3

The DNASU plasmid repository

More...DNASUi		6605

Genome annotation databases

EnsembliENST00000264640; ENSP00000466608; ENSG00000073584 [Q969G3-2]
ENST00000348513; ENSP00000323967; ENSG00000073584 [Q969G3-1]
ENST00000377808; ENSP00000367039; ENSG00000073584 [Q969G3-5]
ENST00000400122; ENSP00000411607; ENSG00000073584 [Q969G3-6]
ENST00000447024; ENSP00000392958; ENSG00000073584 [Q969G3-2]
ENST00000578044; ENSP00000464511; ENSG00000073584 [Q969G3-3]
ENST00000643318; ENSP00000494771; ENSG00000073584 [Q969G3-3]
ENST00000643683; ENSP00000496094; ENSG00000073584 [Q969G3-1]
ENST00000644701; ENSP00000496097; ENSG00000073584 [Q969G3-2]
ENST00000647508; ENSP00000496445; ENSG00000073584 [Q969G3-4]
GeneIDi6605
KEGGihsa:6605
UCSCiuc002hux.4 human [Q969G3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6605
DisGeNETi6605
EuPathDBiHostDB:ENSG00000073584.18

GeneCards: human genes, protein and diseases

More...GeneCardsi		SMARCE1
GeneReviewsiSMARCE1
HGNCiHGNC:11109 SMARCE1
HPAiCAB037318
HPA003916
MalaCardsiSMARCE1
MIMi603111 gene
607174 phenotype
616938 phenotype
neXtProtiNX_Q969G3
OpenTargetsiENSG00000073584
Orphaneti1465 Coffin-Siris syndrome
263662 Familial multiple meningioma
PharmGKBiPA35959

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4715 Eukaryota
ENOG410Y9B3 LUCA
GeneTreeiENSGT00390000003628
HOGENOMiHOG000230965
InParanoidiQ969G3
KOiK11651
OMAiQMPNTTG
OrthoDBi1214165at2759
PhylomeDBiQ969G3
TreeFamiTF321146

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
SIGNORiQ969G3

Miscellaneous databases

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

More...ChiTaRSi		SMARCE1 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SMARCE1

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

More...GenomeRNAii		6605
PharosiQ969G3 Tbio

Protein Ontology

More...PROi		PR:Q969G3
RNActiQ969G3 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000073584 Expressed in 168 organ(s), highest expression level in lung
ExpressionAtlasiQ969G3 baseline and differential
GenevisibleiQ969G3 HS

Family and domain databases

Gene3Di1.10.30.10, 1 hit
InterProiView protein in InterPro
IPR030089 BAF57
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
PANTHERiPTHR46232 PTHR46232, 1 hit
PfamiView protein in Pfam
PF00505 HMG_box, 1 hit
SMARTiView protein in SMART
SM00398 HMG, 1 hit
SUPFAMiSSF47095 SSF47095, 1 hit
PROSITEiView protein in PROSITE
PS50118 HMG_BOX_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiSMCE1_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: Q969G3
Secondary accession number(s): B3KMC1
, B4DFR4, C0IMW4, C0IMW5, C0IMW7, H7C3F6, O43539
<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 25, 2004
Last sequence update: October 25, 2004
Last modified: December 11, 2019
This is version 178 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

Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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