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UniProtKB - Q6STE5 (SMRD3_HUMAN)

Entry version 169 (07 Oct 2020)
Sequence version 1 (05 Jul 2004)
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Protein

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3

Gene

SMARCD3

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. Stimulates nuclear receptor mediated transcription. 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).2 PublicationsBy similarity2 Publications

<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
Biological processNeurogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q6STE5

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1368082, RORA activates gene expression
R-HSA-1368108, BMAL1:CLOCK,NPAS2 activates circadian gene expression
R-HSA-1989781, PPARA activates gene expression
R-HSA-2151201, Transcriptional activation of mitochondrial biogenesis
R-HSA-2426168, Activation of gene expression by SREBF (SREBP)
R-HSA-3214858, RMTs methylate histone arginines
R-HSA-381340, Transcriptional regulation of white adipocyte differentiation
R-HSA-400206, Regulation of lipid metabolism by PPARalpha
R-HSA-400253, Circadian Clock
R-HSA-8939243, RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q6STE5

<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%5Fand%5Ftaxonomy%5Fsection">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 D member 3
Alternative name(s):
60 kDa BRG-1/Brm-associated factor subunit C
BRG1-associated factor 60C
Short name:
BAF60C
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:SMARCD3
Synonyms:BAF60C
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000082014.16

Human Gene Nomenclature Database

More...HGNCi		HGNC:11108, SMARCD3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601737, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6STE5

<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

Organism-specific databases

DisGeNET

More...DisGeNETi		6604

Open Targets

More...OpenTargetsi		ENSG00000082014

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35958

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6STE5, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SMARCD3

Domain mapping of disease mutations (DMDM)

More...DMDMi		57013057

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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000719882 – 483SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3Add BLAST482

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei178PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q6STE5

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q6STE5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q6STE5

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q6STE5

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

More...PaxDbi		Q6STE5

PeptideAtlas

More...PeptideAtlasi		Q6STE5

PRoteomics IDEntifications database

More...PRIDEi		Q6STE5

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		67360 [Q6STE5-1]
67361 [Q6STE5-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6STE5

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q6STE5

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

More...PhosphoSitePlusi		Q6STE5

<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

Isoform 2 and isoform 1 are expressed in brain, heart, kidney, placenta, prostate, salivary gland, spleen, testis, thyroid, trachea and uterus. Isoform 1 is also expressed in skeletal muscle and adipose tissue.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000082014, Expressed in subventricular zone (inner) (primate) and 230 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q6STE5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6STE5, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000082014, Tissue enhanced (skeletal)

<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%5Fsection">'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%5Fsection">'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 (Probable).

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 (By similarity). 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 (PubMed:22952240, PubMed:26601204).

Interacts with SMARCA4/BRG1/BAF190A (PubMed:14701856).

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). The precise distribution of the related SMARCD1, SMARCD2 and SMARCD3 proteins among these and other SWI/SNF nucleosome-remodeling complexes is not fully known. May allow recruitment of SWI/SNF containing complexes specifically to promoters where these factors are located.

Also interacts with several nuclear receptors including PPARG/NR1C3, RXRA/NR1F1, ESR1, NR5A1, NR5A2/LRH1 and other transcriptional activators including the HLH protein SREBF1/SREBP1 and the homeobox protein PBX1 (PubMed:14701856).

Interacts with PRDM1/BLIMP1 (PubMed:32417234).

2 PublicationsBy similarity4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112488, 54 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-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-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-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		Q6STE5

Database of interacting proteins

More...DIPi		DIP-33012N

Protein interaction database and analysis system

More...IntActi		Q6STE5, 26 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000262188

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q6STE5, protein

<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

3D structure databases

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

More...SMRi		Q6STE5

Database of comparative protein structure models

More...ModBasei		Search...

<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%5Fand%5Fdomains%5Fsection">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>Domaini258 – 335SWIB/MDM2PROSITE-ProRule annotationAdd BLAST78

<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 SMARCD family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2570, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158945

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_023529_0_2_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6STE5

KEGG Orthology (KO)

More...KOi		K11650

Identification of Orthologs from Complete Genome Data

More...OMAi		WENSRSS

Database of Orthologous Groups

More...OrthoDBi		1027566at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6STE5

TreeFam database of animal gene trees

More...TreeFami		TF106486

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.245.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR038043, SMARCD3
IPR019835, SWIB_domain
IPR036885, SWIB_MDM2_dom_sf
IPR003121, SWIB_MDM2_domain

The PANTHER Classification System

More...PANTHERi		PTHR13844:SF5, PTHR13844:SF5, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02201, SWIB, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00151, SWIB, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47592, SSF47592, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51925, SWIB_MDM2, 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%5Flength">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 (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6STE5-1) [UniParc]FASTAAdd to basket
Also known as: BAF60C2

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
MAADEVAGGA RKATKSKLFE FLVHGVRPGM PSGARMPHQG APMGPPGSPY 
        60         70         80         90        100
MGSPAVRPGL APAGMEPARK RAAPPPGQSQ AQSQGQPVPT APARSRSAKR 
       110        120        130        140        150
RKMADKILPQ RIRELVPESQ AYMDLLAFER KLDQTIMRKR VDIQEALKRP 
       160        170        180        190        200
MKQKRKLRLY ISNTFNPAKP DAEDSDGSIA SWELRVEGKL LDDPSKQKRK 
       210        220        230        240        250
FSSFFKSLVI ELDKDLYGPD NHLVEWHRTP TTQETDGFQV KRPGDLSVRC 
       260        270        280        290        300
TLLLMLDYQP PQFKLDPRLA RLLGLHTQSR SAIVQALWQY VKTNRLQDSH 
       310        320        330        340        350
DKEYINGDKY FQQIFDCPRL KFSEIPQRLT ALLLPPDPIV INHVISVDPS 
       360        370        380        390        400
DQKKTACYDI DVEVEEPLKG QMSSFLLSTA NQQEISALDS KIHETIESIN 
       410        420        430        440        450
QLKIQRDFML SFSRDPKGYV QDLLRSQSRD LKVMTDVAGN PEEERRAEFY 
       460        470        480 
HQPWSQEAVS RYFYCKIQQR RQELEQSLVV RNT
Length:483
Mass (Da):55,016
Last modified:July 5, 2004 - v1
<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:iB7B28DD11DCD0B5C
GO
Isoform 2 (identifier: Q6STE5-2) [UniParc]FASTAAdd to basket
Also known as: BAF60C1

The sequence of this isoform differs from the canonical sequence as follows:
     1-26: MAADEVAGGARKATKSKLFEFLVHGV → MTPGLQHPPTVVQ

Show »
Length:470
Mass (Da):53,687
Checksum:iDD6C2454B7AC2B04
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JYI7C9JYI7_HUMAN
SWI/SNF-related matrix-associated a...
SMARCD3
139Annotation 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>
F8WBJ3F8WBJ3_HUMAN
SWI/SNF-related matrix-associated a...
SMARCD3
73Annotation 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>
H7C4E9H7C4E9_HUMAN
SWI/SNF-related matrix-associated a...
SMARCD3
68Annotation 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>

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

The sequence AAC50697 differs from that shown. Reason: Frameshift.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti88V → E in AAC50697 (PubMed:8804307).Curated1
Sequence conflicti140R → G in AAC50697 (PubMed:8804307).Curated1
Sequence conflicti387A → P in AAC50697 (PubMed:8804307).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_020884170P → S1 PublicationCorresponds to variant dbSNP:rs1050101Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0124981 – 26MAADE…LVHGV → MTPGLQHPPTVVQ in isoform 2. 3 PublicationsAdd BLAST26

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
U66619 mRNA Translation: AAC50697.1 Frameshift.
AY450430 mRNA Translation: AAR88510.1
AY450431 mRNA Translation: AAR88511.1
AC021097 Genomic DNA Translation: AAS00380.1
AC005486 Genomic DNA Translation: AAS02031.1
CH471173 Genomic DNA Translation: EAW54005.1
CH471173 Genomic DNA Translation: EAW54007.1
CH471173 Genomic DNA Translation: EAW54008.1
BC002628 mRNA Translation: AAH02628.1
BC110350 mRNA Translation: AAI10351.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34780.1 [Q6STE5-1]
CCDS5924.1 [Q6STE5-2]

NCBI Reference Sequences

More...RefSeqi		NP_001003801.1, NM_001003801.1 [Q6STE5-1]
NP_001003802.1, NM_001003802.1 [Q6STE5-2]
NP_003069.2, NM_003078.3 [Q6STE5-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000262188; ENSP00000262188; ENSG00000082014 [Q6STE5-1]
ENST00000356800; ENSP00000349254; ENSG00000082014 [Q6STE5-2]
ENST00000392811; ENSP00000376558; ENSG00000082014 [Q6STE5-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6604

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6604

UCSC genome browser

More...UCSCi		uc003wjs.4, human [Q6STE5-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U66619 mRNA Translation: AAC50697.1 Frameshift.
AY450430 mRNA Translation: AAR88510.1
AY450431 mRNA Translation: AAR88511.1
AC021097 Genomic DNA Translation: AAS00380.1
AC005486 Genomic DNA Translation: AAS02031.1
CH471173 Genomic DNA Translation: EAW54005.1
CH471173 Genomic DNA Translation: EAW54007.1
CH471173 Genomic DNA Translation: EAW54008.1
BC002628 mRNA Translation: AAH02628.1
BC110350 mRNA Translation: AAI10351.1
CCDSiCCDS34780.1 [Q6STE5-1]
CCDS5924.1 [Q6STE5-2]
RefSeqiNP_001003801.1, NM_001003801.1 [Q6STE5-1]
NP_001003802.1, NM_001003802.1 [Q6STE5-2]
NP_003069.2, NM_003078.3 [Q6STE5-2]

3D structure databases

SMRiQ6STE5
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi112488, 54 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-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-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-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
CORUMiQ6STE5
DIPiDIP-33012N
IntActiQ6STE5, 26 interactors
STRINGi9606.ENSP00000262188

PTM databases

iPTMnetiQ6STE5
MetOSiteiQ6STE5
PhosphoSitePlusiQ6STE5

Polymorphism and mutation databases

BioMutaiSMARCD3
DMDMi57013057

Proteomic databases

EPDiQ6STE5
jPOSTiQ6STE5
MassIVEiQ6STE5
MaxQBiQ6STE5
PaxDbiQ6STE5
PeptideAtlasiQ6STE5
PRIDEiQ6STE5
ProteomicsDBi67360 [Q6STE5-1]
67361 [Q6STE5-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		18748, 242 antibodies

The DNASU plasmid repository

More...DNASUi		6604

Genome annotation databases

EnsembliENST00000262188; ENSP00000262188; ENSG00000082014 [Q6STE5-1]
ENST00000356800; ENSP00000349254; ENSG00000082014 [Q6STE5-2]
ENST00000392811; ENSP00000376558; ENSG00000082014 [Q6STE5-2]
GeneIDi6604
KEGGihsa:6604
UCSCiuc003wjs.4, human [Q6STE5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6604
DisGeNETi6604
EuPathDBiHostDB:ENSG00000082014.16

GeneCards: human genes, protein and diseases

More...GeneCardsi		SMARCD3
HGNCiHGNC:11108, SMARCD3
HPAiENSG00000082014, Tissue enhanced (skeletal)
MIMi601737, gene
neXtProtiNX_Q6STE5
OpenTargetsiENSG00000082014
PharmGKBiPA35958

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2570, Eukaryota
GeneTreeiENSGT00940000158945
HOGENOMiCLU_023529_0_2_1
InParanoidiQ6STE5
KOiK11650
OMAiWENSRSS
OrthoDBi1027566at2759
PhylomeDBiQ6STE5
TreeFamiTF106486

Enzyme and pathway databases

PathwayCommonsiQ6STE5
ReactomeiR-HSA-1368082, RORA activates gene expression
R-HSA-1368108, BMAL1:CLOCK,NPAS2 activates circadian gene expression
R-HSA-1989781, PPARA activates gene expression
R-HSA-2151201, Transcriptional activation of mitochondrial biogenesis
R-HSA-2426168, Activation of gene expression by SREBF (SREBP)
R-HSA-3214858, RMTs methylate histone arginines
R-HSA-381340, Transcriptional regulation of white adipocyte differentiation
R-HSA-400206, Regulation of lipid metabolism by PPARalpha
R-HSA-400253, Circadian Clock
R-HSA-8939243, RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
SIGNORiQ6STE5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		6604, 6 hits in 875 CRISPR screens

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

More...ChiTaRSi		SMARCD3, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SMARCD3

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

More...GenomeRNAii		6604
PharosiQ6STE5, Tbio

Protein Ontology

More...PROi		PR:Q6STE5
RNActiQ6STE5, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000082014, Expressed in subventricular zone (inner) (primate) and 230 other tissues
ExpressionAtlasiQ6STE5, baseline and differential
GenevisibleiQ6STE5, HS

Family and domain databases

Gene3Di1.10.245.10, 1 hit
InterProiView protein in InterPro
IPR038043, SMARCD3
IPR019835, SWIB_domain
IPR036885, SWIB_MDM2_dom_sf
IPR003121, SWIB_MDM2_domain
PANTHERiPTHR13844:SF5, PTHR13844:SF5, 1 hit
PfamiView protein in Pfam
PF02201, SWIB, 1 hit
SMARTiView protein in SMART
SM00151, SWIB, 1 hit
SUPFAMiSSF47592, SSF47592, 1 hit
PROSITEiView protein in PROSITE
PS51925, SWIB_MDM2, 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 nameiSMRD3_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: Q6STE5
Secondary accession number(s): D3DX10
, Q2YD86, Q75MJ2, Q75MR8, Q92926, Q9BUH1
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 4, 2005
Last sequence update: July 5, 2004
Last modified: October 7, 2020
This is version 169 of the entry and version 1 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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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