Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q96GM5 (SMRD1_HUMAN)

Entry version 182 (10 Feb 2021)
Sequence version 2 (26 May 2009)
Previous versions | rss
Add a publicationFeedback
Protein

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

Gene

SMARCD1

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 (PubMed:8804307, PubMed:29374058). 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). Has a strong influence on vitamin D-mediated transcriptional activity from an enhancer vitamin D receptor element (VDRE). May be a link between mammalian SWI-SNF-like chromatin remodeling complexes and the vitamin D receptor (VDR) heterodimer (PubMed:14698202). Mediates critical interactions between nuclear receptors and the BRG1/SMARCA4 chromatin-remodeling complex for transactivation (PubMed:12917342).2 PublicationsBy similarity4 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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96GM5

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		Q96GM5

<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 1
Alternative name(s):
60 kDa BRG-1/Brm-associated factor subunit A
BRG1-associated factor 60A
Short name:
BAF60A
SWI/SNF complex 60 kDa subunit
<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:SMARCD1Imported
Synonyms:BAF60A1 Publication
<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 12

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:11106, SMARCD1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601735, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96GM5

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000066117.14

<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

Coffin-Siris syndrome 11 (CSS11)1 Publication
The disease is caused by variants 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. CSS11 is an autosomal dominant form characterized by developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet.
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_083801330D → E in CSS11; unknown pathological significance; does not affect the interaction with SMARCC1 and SMARCA4. 1 Publication1
Natural variantiVAR_083802446R → G in CSS11. 1 Publication1
Natural variantiVAR_083803486 – 515Missing in CSS11; does not affect the interaction with SMARCC1 and SMARCA4. 1 PublicationAdd BLAST30
Natural variantiVAR_083804495F → L in CSS11; does not affect the interaction with SMARCC1 and SMARCA4. 1 Publication1
Natural variantiVAR_083805503 – 515Missing in CSS11. 1 PublicationAdd BLAST13

Keywords - Diseasei

Disease variant, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		6602

MalaCards human disease database

More...MalaCardsi		SMARCD1
MIMi618779, phenotype

Open Targets

More...OpenTargetsi		ENSG00000066117

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

More...Orphaneti		1465, Coffin-Siris syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35956

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96GM5, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SMARCD1

Domain mapping of disease mutations (DMDM)

More...DMDMi		238054318

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000719831 – 515SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1Add BLAST515

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 residuei68Asymmetric dimethylarginineBy similarity1
Modified residuei88Asymmetric dimethylarginineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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-linki101Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei203PhosphothreonineBy similarity1
Modified residuei223N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96GM5

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96GM5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96GM5

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96GM5

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

More...PaxDbi		Q96GM5

PeptideAtlas

More...PeptideAtlasi		Q96GM5

PRoteomics IDEntifications database

More...PRIDEi		Q96GM5

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		76645 [Q96GM5-1]
76646 [Q96GM5-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96GM5

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q96GM5

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

More...PhosphoSitePlusi		Q96GM5

<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

Expressed in all tissues tested, including brain, heart, kidney, liver, lung, muscle, pancreas and placenta.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000066117, Expressed in subventricular zone (inner) (primate) and 230 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96GM5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96GM5, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000066117, Low tissue specificity

<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 (PubMed:8895581).

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 (PubMed:18765789). In muscle cells, the BAF complex also contains DPF3.

Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin.

Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (By similarity).

Component of 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).

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). Specifically interacts with the VDR heterodimer complex (PubMed:14698202).

Interacts with ESR1, NR3C1, NR1H4, PGR, SMARCA4, SMARCC1 and SMARCC2 (PubMed:12917342, PubMed:30879640).

Interacts with DPF2 (PubMed:20460684).

2 PublicationsBy similarity7 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

Q96GM5
With#Exp.IntAct
ABI1 - isoform 5 [Q8IZP0-5]3EBI-358489,EBI-11743294
ABI2 - isoform 2 [Q9NYB9-2]3EBI-358489,EBI-11096309
ABI3 [Q9P2A4]3EBI-358489,EBI-742038
ADAT2 [Q7Z6V5]3EBI-358489,EBI-2809203
ANKRD23 [Q86SG2]3EBI-358489,EBI-5661893
ANKRD49 [Q8WVL7]4EBI-358489,EBI-9381820
ARMC10 - isoform 2 [Q8N2F6-2]3EBI-358489,EBI-12902762
ARRDC3 [Q96B67]3EBI-358489,EBI-2875665
ATXN1 [P54253]6EBI-358489,EBI-930964
BAG6 - isoform 2 [P46379-2]3EBI-358489,EBI-10988864
BCAS2 [O75934]3EBI-358489,EBI-1050106
BEND5 [Q7L4P6]3EBI-358489,EBI-724373
BEX3 [Q00994]3EBI-358489,EBI-741753
BHLHB9 [Q6PI77]3EBI-358489,EBI-11519926
BLOC1S5 [Q8TDH9]3EBI-358489,EBI-465861
BRWD1 - isoform D [Q9NSI6-4]3EBI-358489,EBI-10693038
C19orf54 - isoform 3 [Q5BKX5-3]3EBI-358489,EBI-11976299
C1orf109 [Q9NX04]3EBI-358489,EBI-8643161
CALCOCO2 [Q13137]3EBI-358489,EBI-739580
CCDC102B [Q68D86]3EBI-358489,EBI-10171570
CCDC130 [P13994]3EBI-358489,EBI-716093
CCDC197 [Q8NCU1]3EBI-358489,EBI-750686
CDR2 [Q01850]3EBI-358489,EBI-1181367
CEACAM6 [P40199]3EBI-358489,EBI-4314501
COG6 [Q9Y2V7]3EBI-358489,EBI-3866319
COL1A2 [P08123]3EBI-358489,EBI-983038
COL26A1 - isoform 2 [Q96A83-2]3EBI-358489,EBI-21553822
CUEDC1 [Q9NWM3]3EBI-358489,EBI-5838167
CYSRT1 [A8MQ03]3EBI-358489,EBI-3867333
DCTN2 [Q13561]3EBI-358489,EBI-715074
DISC1 - isoform 2 [Q9NRI5-2]3EBI-358489,EBI-11988027
DNALI1 [O14645]3EBI-358489,EBI-395638
EIF4G1 - isoform 9 [Q04637-9]3EBI-358489,EBI-12012124
EP400 [A0A0A0MR80]3EBI-358489,EBI-12089140
ESS2 [Q96DF8]3EBI-358489,EBI-3928124
FAM136A [Q96C01]3EBI-358489,EBI-373319
FAM161A [Q3B820]3EBI-358489,EBI-719941
FLNA - isoform 2 [P21333-2]3EBI-358489,EBI-9641086
GFAP [P14136]3EBI-358489,EBI-744302
GIGYF1 [O75420]3EBI-358489,EBI-947774
GINS3 [Q9BRX5]3EBI-358489,EBI-2857315
GOLGA6L9 [A6NEM1]3EBI-358489,EBI-5916454
GRAMD4 [Q6IC98]3EBI-358489,EBI-10962409
HES6 [Q96HZ4]3EBI-358489,EBI-7469266
HOXD3 [P31249]3EBI-358489,EBI-3957655
HSF2BP [O75031]3EBI-358489,EBI-7116203
HTRA2 [O43464]3EBI-358489,EBI-517086
HTT [P42858]12EBI-358489,EBI-466029
IKBIP - isoform 4 [Q70UQ0-4]3EBI-358489,EBI-12190633
IKZF3 [Q9UKT9]3EBI-358489,EBI-747204
INSC [Q1MX18]3EBI-358489,EBI-12081118
IQCB1 - isoform 2 [Q15051-2]3EBI-358489,EBI-11944935
JPH3 [Q8WXH2]3EBI-358489,EBI-1055254
KATNBL1 [Q9H079]3EBI-358489,EBI-715394
KEAP1 [Q14145]3EBI-358489,EBI-751001
KIAA0753 [Q2KHM9]3EBI-358489,EBI-2805604
KLF11 [O14901]3EBI-358489,EBI-948266
KRT15 [P19012]4EBI-358489,EBI-739566
KRT16 [P08779]3EBI-358489,EBI-356410
KRT27 [Q7Z3Y8]3EBI-358489,EBI-3044087
KRT31 [Q15323]3EBI-358489,EBI-948001
KRT34 [O76011]3EBI-358489,EBI-1047093
KRT37 [O76014]3EBI-358489,EBI-1045716
KRT38 [O76015]3EBI-358489,EBI-1047263
KRT75 [O95678]3EBI-358489,EBI-2949715
LDB2 [O43679]3EBI-358489,EBI-2865580
LDOC1 [O95751]5EBI-358489,EBI-740738
LSAMP [Q13449]3EBI-358489,EBI-4314821
LZTS2 [Q9BRK4]3EBI-358489,EBI-741037
MAGEA2B [P43356]3EBI-358489,EBI-5650739
MAGEA6 [P43360]3EBI-358489,EBI-1045155
MED4 [Q9NPJ6]6EBI-358489,EBI-394607
MKRN3 [Q13064]3EBI-358489,EBI-2340269
MTUS2 - isoform 2 [Q5JR59-3]3EBI-358489,EBI-11522433
NAB2 [Q15742]3EBI-358489,EBI-8641936
NDUFV2 [P19404]3EBI-358489,EBI-713665
NECAB2 - isoform 2 [Q7Z6G3-2]3EBI-358489,EBI-10172876
NELFA [Q9H3P2]3EBI-358489,EBI-5461341
NUDT16L1 [Q9BRJ7]3EBI-358489,EBI-2949792
NUP58 [Q9BVL2]3EBI-358489,EBI-2811583
OPTN [Q96CV9]3EBI-358489,EBI-748974
PACSIN3 [Q9UKS6]3EBI-358489,EBI-77926
PBX4 [Q9BYU1]3EBI-358489,EBI-10302990
PIAS4 [Q8N2W9]3EBI-358489,EBI-473160
PICK1 [Q9NRD5]3EBI-358489,EBI-79165
PIH1D1 [Q9NWS0]3EBI-358489,EBI-357318
PKNOX2 [Q96KN3]3EBI-358489,EBI-2692890
PLAGL2 [Q9UPG8]3EBI-358489,EBI-2876622
PPM1J [Q5JR12]3EBI-358489,EBI-13292717
PRPH [P41219]3EBI-358489,EBI-752074
PSTPIP1 [O43586]3EBI-358489,EBI-1050964
RORB - isoform 1 [Q92753-1]3EBI-358489,EBI-18560266
SCARA5 - isoform 2 [Q6ZMJ2-2]3EBI-358489,EBI-12823227
SCHIP1 - isoform SCHIP1-4 [P0DPB3-4]3EBI-358489,EBI-11962426
SCNM1 [Q9BWG6]3EBI-358489,EBI-748391
SERTAD3 [Q9UJW9]3EBI-358489,EBI-748621
SHISA6 [Q6ZSJ9]3EBI-358489,EBI-12037847
SMARCA4 [P51532]7EBI-358489,EBI-302489
SMARCB1 - isoform B [Q12824-2]3EBI-358489,EBI-358436
SMARCC1 [Q92922]5EBI-358489,EBI-355653
SMUG1 - isoform 2 [Q53HV7-2]3EBI-358489,EBI-12275818
SNF8 [Q96H20]3EBI-358489,EBI-747719
SPSB2 [Q99619]3EBI-358489,EBI-2323209
STH [Q8IWL8]3EBI-358489,EBI-12843506
STMN3 [Q9NZ72]3EBI-358489,EBI-725557
TARDBP [Q13148]6EBI-358489,EBI-372899
TCP10L [Q8TDR4]3EBI-358489,EBI-3923210
THOC7 [Q6I9Y2]3EBI-358489,EBI-716286
TLE5 - isoform 2 [Q08117-2]3EBI-358489,EBI-11741437
TRIM27 [P14373]3EBI-358489,EBI-719493
TRIM54 [Q9BYV2]3EBI-358489,EBI-2130429
TRIM72 [Q6ZMU5]3EBI-358489,EBI-2341648
USHBP1 [Q8N6Y0]4EBI-358489,EBI-739895
USP54 - isoform 6 [Q70EL1-9]3EBI-358489,EBI-11975223
VPS37B [Q9H9H4]7EBI-358489,EBI-4400866
WWP2 [O00308]3EBI-358489,EBI-743923
ZC2HC1C - isoform 2 [Q53FD0-2]3EBI-358489,EBI-14104088
ZMAT5 [Q9UDW3]3EBI-358489,EBI-7850213
ZMYND12 [Q9H0C1]3EBI-358489,EBI-12030590
ZNF417 [Q8TAU3]3EBI-358489,EBI-740727
ZNF438 [Q7Z4V0]3EBI-358489,EBI-11962468
ZNF511 [Q8NB15]3EBI-358489,EBI-10269136
ZNF629 [Q9UEG4]3EBI-358489,EBI-9977294
ZNF655 [Q8N720]3EBI-358489,EBI-625509
ZNF69 - isoform 2 [Q9UC07-2]3EBI-358489,EBI-12310821
A0A1U9X8X83EBI-358489,EBI-17234977
Nr3c1 [P06536] from Rattus norvegicus.2EBI-358489,EBI-1187143

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112486, 243 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-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
CPX-4084, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRA-SMARCA2 variant
CPX-4203, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRAL-SMARCA2 variant
CPX-4206, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRA-SMARCA4 variant
CPX-4207, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRAL-SMARCA4 variant
CPX-4223, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA2 variant
CPX-4224, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA2 variant
CPX-4225, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA4 variant
CPX-4226, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA4 variant

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q96GM5

Database of interacting proteins

More...DIPi		DIP-33390N

Protein interaction database and analysis system

More...IntActi		Q96GM5, 207 interactors

Molecular INTeraction database

More...MINTi		Q96GM5

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000378414

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96GM5, 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

Secondary structure

1515
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q96GM5

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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>Domaini290 – 367SWIB/MDM2PROSITE-ProRule annotationAdd BLAST78

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni43 – 167Interaction with ESR1, NR1H4, NR3C1, PGR and SMARCA41 PublicationAdd BLAST125
Regioni168 – 474Interaction with SMARCC1 and SMARCC21 PublicationAdd BLAST307
Regioni180 – 515Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivoAdd BLAST336

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 coili412 – 440Sequence analysisAdd BLAST29

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 biasi124 – 127Poly-Lys4

<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.Sequence analysis

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2570, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156629

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_023529_0_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96GM5

Identification of Orthologs from Complete Genome Data

More...OMAi		MNITINL

Database of Orthologous Groups

More...OrthoDBi		1027566at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96GM5

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
IPR038041, SMARCD1
IPR019835, SWIB_domain
IPR036885, SWIB_MDM2_dom_sf
IPR003121, SWIB_MDM2_domain

The PANTHER Classification System

More...PANTHERi		PTHR13844:SF1, PTHR13844:SF1, 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.

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 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 11 Publication (identifier: Q96GM5-1) [UniParc]FASTAAdd to basket

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
MAARAGFQSV APSGGAGASG GAGAAAALGP GGTPGPPVRM GPAPGQGLYR 
        60         70         80         90        100
SPMPGAAYPR PGMLPGSRMT PQGPSMGPPG YGGNPSVRPG LAQSGMDQSR 
       110        120        130        140        150
KRPAPQQIQQ VQQQAVQNRN HNAKKKKMAD KILPQRIREL VPESQAYMDL 
       160        170        180        190        200
LAFERKLDQT IMRKRLDIQE ALKRPIKQKR KLRIFISNTF NPAKSDAEDG 
       210        220        230        240        250
EGTVASWELR VEGRLLEDSA LSKYDATKQK RKFSSFFKSL VIELDKDLYG 
       260        270        280        290        300
PDNHLVEWHR TATTQETDGF QVKRPGDVNV RCTVLLMLDY QPPQFKLDPR 
       310        320        330        340        350
LARLLGIHTQ TRPVIIQALW QYIKTHKLQD PHEREFVICD KYLQQIFESQ 
       360        370        380        390        400
RMKFSEIPQR LHALLMPPEP IIINHVISVD PNDQKKTACY DIDVEVDDTL 
       410        420        430        440        450
KTQMNSFLLS TASQQEIATL DNKIHETIET INQLKTQREF MLSFARDPQG 
       460        470        480        490        500
FINDWLQSQC RDLKTMTDVV GNPEEERRAE FYFQPWAQEA VCRYFYSKVQ 
       510 
QRRQELEQAL GIRNT
Length:515
Mass (Da):58,233
Last modified:May 26, 2009 - 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:iE683AA1E345DA400
GO
Isoform 21 Publication (identifier: Q96GM5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     423-463: Missing.

Show »
Length:474
Mass (Da):53,299
Checksum:i2DA7AB84B9A3F933
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VUB0F8VUB0_HUMAN
SWI/SNF-related matrix-associated a...
SMARCD1
289Annotation 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>
F8VZ70F8VZ70_HUMAN
SWI/SNF-related matrix-associated a...
SMARCD1
278Annotation 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>
F8VRQ4F8VRQ4_HUMAN
SWI/SNF-related matrix-associated a...
SMARCD1
313Annotation 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>
F8VW95F8VW95_HUMAN
SWI/SNF-related matrix-associated a...
SMARCD1
113Annotation 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>
H0YHV1H0YHV1_HUMAN
SWI/SNF-related matrix-associated a...
SMARCD1
115Annotation 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 AAC50695 differs from that shown. Reason: Frameshift.Curated
The sequence AAD23390 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAH09368 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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 conflicti349S → T in AAC50695 (PubMed:8804307).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_083801330D → E in CSS11; unknown pathological significance; does not affect the interaction with SMARCC1 and SMARCA4. 1 Publication1
Natural variantiVAR_083802446R → G in CSS11. 1 Publication1
Natural variantiVAR_083803486 – 515Missing in CSS11; does not affect the interaction with SMARCC1 and SMARCA4. 1 PublicationAdd BLAST30
Natural variantiVAR_083804495F → L in CSS11; does not affect the interaction with SMARCC1 and SMARCA4. 1 Publication1
Natural variantiVAR_083805503 – 515Missing in CSS11. 1 PublicationAdd BLAST13

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_004179423 – 463Missing in isoform 2. 1 PublicationAdd BLAST41

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
AF109733 mRNA Translation: AAD23390.1 Different initiation.
U66617 mRNA Translation: AAC50695.1 Frameshift.
AC025154 Genomic DNA No translation available.
BC009368 mRNA Translation: AAH09368.3 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS8797.2 [Q96GM5-1]
CCDS8798.2 [Q96GM5-2]

NCBI Reference Sequences

More...RefSeqi		NP_003067.3, NM_003076.4 [Q96GM5-1]
NP_620710.2, NM_139071.2 [Q96GM5-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000381513; ENSP00000370924; ENSG00000066117 [Q96GM5-2]
ENST00000394963; ENSP00000378414; ENSG00000066117 [Q96GM5-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6602

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6602

UCSC genome browser

More...UCSCi		uc001rvx.5, human [Q96GM5-1]

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
AF109733 mRNA Translation: AAD23390.1 Different initiation.
U66617 mRNA Translation: AAC50695.1 Frameshift.
AC025154 Genomic DNA No translation available.
BC009368 mRNA Translation: AAH09368.3 Different initiation.
CCDSiCCDS8797.2 [Q96GM5-1]
CCDS8798.2 [Q96GM5-2]
RefSeqiNP_003067.3, NM_003076.4 [Q96GM5-1]
NP_620710.2, NM_139071.2 [Q96GM5-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6LTHelectron microscopy3.00P1-515[»]
6LTJelectron microscopy3.70P1-515[»]
SMRiQ96GM5
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi112486, 243 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-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
CPX-4084, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRA-SMARCA2 variant
CPX-4203, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRAL-SMARCA2 variant
CPX-4206, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRA-SMARCA4 variant
CPX-4207, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRAL-SMARCA4 variant
CPX-4223, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA2 variant
CPX-4224, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA2 variant
CPX-4225, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA4 variant
CPX-4226, GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA4 variant
CORUMiQ96GM5
DIPiDIP-33390N
IntActiQ96GM5, 207 interactors
MINTiQ96GM5
STRINGi9606.ENSP00000378414

PTM databases

iPTMnetiQ96GM5
MetOSiteiQ96GM5
PhosphoSitePlusiQ96GM5

Genetic variation databases

BioMutaiSMARCD1
DMDMi238054318

Proteomic databases

EPDiQ96GM5
jPOSTiQ96GM5
MassIVEiQ96GM5
MaxQBiQ96GM5
PaxDbiQ96GM5
PeptideAtlasiQ96GM5
PRIDEiQ96GM5
ProteomicsDBi76645 [Q96GM5-1]
76646 [Q96GM5-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		1319, 261 antibodies

The DNASU plasmid repository

More...DNASUi		6602

Genome annotation databases

EnsembliENST00000381513; ENSP00000370924; ENSG00000066117 [Q96GM5-2]
ENST00000394963; ENSP00000378414; ENSG00000066117 [Q96GM5-1]
GeneIDi6602
KEGGihsa:6602
UCSCiuc001rvx.5, human [Q96GM5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6602
DisGeNETi6602

GeneCards: human genes, protein and diseases

More...GeneCardsi		SMARCD1
HGNCiHGNC:11106, SMARCD1
HPAiENSG00000066117, Low tissue specificity
MalaCardsiSMARCD1
MIMi601735, gene
618779, phenotype
neXtProtiNX_Q96GM5
OpenTargetsiENSG00000066117
Orphaneti1465, Coffin-Siris syndrome
PharmGKBiPA35956
VEuPathDBiHostDB:ENSG00000066117.14

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2570, Eukaryota
GeneTreeiENSGT00940000156629
HOGENOMiCLU_023529_0_1_1
InParanoidiQ96GM5
OMAiMNITINL
OrthoDBi1027566at2759
PhylomeDBiQ96GM5
TreeFamiTF106486

Enzyme and pathway databases

PathwayCommonsiQ96GM5
ReactomeiR-HSA-3214858, RMTs methylate histone arginines
R-HSA-8939243, RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
SIGNORiQ96GM5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		6602, 92 hits in 885 CRISPR screens

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

More...ChiTaRSi		SMARCD1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SMARCD1

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

More...GenomeRNAii		6602
PharosiQ96GM5, Tbio

Protein Ontology

More...PROi		PR:Q96GM5
RNActiQ96GM5, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000066117, Expressed in subventricular zone (inner) (primate) and 230 other tissues
ExpressionAtlasiQ96GM5, baseline and differential
GenevisibleiQ96GM5, HS

Family and domain databases

Gene3Di1.10.245.10, 1 hit
InterProiView protein in InterPro
IPR038041, SMARCD1
IPR019835, SWIB_domain
IPR036885, SWIB_MDM2_dom_sf
IPR003121, SWIB_MDM2_domain
PANTHERiPTHR13844:SF1, PTHR13844:SF1, 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 nameiSMRD1_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: Q96GM5
Secondary accession number(s): A6NN27, Q92924, Q9Y635
<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 17, 2003
Last sequence update: May 26, 2009
Last modified: February 10, 2021
This is version 182 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again