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The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. T... See more...
Aliases for SMARCE1 Gene
Aliases for SMARCE1 Gene
- SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily E, Member 1 2 3 5
- SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily E Member 1 3 4
- BRG1-Associated Factor 57 3 4
- BAF57 3 4
- SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin E1 3
- Chromatin Remodeling Complex BRG1-Associated Factor 57 3
- CSS5 3
External Ids for SMARCE1 Gene
- HGNC: 11109
- Entrez Gene: 6605
- Ensembl: ENSG00000073584
- OMIM: 603111
- UniProtKB: Q969G3
Previous GeneCards Identifiers for SMARCE1 Gene
- GC17M038285
- GC17M040959
- GC17M038692
- GC17M039157
- GC17M036037
- GC17M038781
- GC17M034578
Summaries for SMARCE1 Gene
-
The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008]
GeneCards Summary for SMARCE1 Gene
SMARCE1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily E, Member 1) is a Protein Coding gene. Diseases associated with SMARCE1 include Meningioma, Familial and Coffin-Siris Syndrome 5. Among its related pathways are AMPK Enzyme Complex Pathway and Transcription Ligand-dependent activation of the ESR1/SP pathway. Gene Ontology (GO) annotations related to this gene include RNA binding and transcription coactivator activity. An important paralog of this gene is TOX4.
UniProtKB/Swiss-Prot Summary for SMARCE1 Gene
-
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Required for the coactivation of estrogen responsive promoters by SWI/SNF complexes and the SRC/p160 family of histone acetyltransferases (HATs). Also specifically interacts with the CoREST corepressor resulting in repression of neuronal specific gene promoters in non-neuronal cells.
Additional gene information for SMARCE1 Gene
- Monarch Initiative
- Search for SMARCE1 at DataMed
- Search for SMARCE1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMARCE1 Gene
Genomics for SMARCE1 Gene
GeneHancer (GH) Regulatory Elements for SMARCE1 Gene
Promoters and enhancers for SMARCE1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SMARCE1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SMARCE1 gene promoter:
-
- CUTL1
- Nkx2-5
- Nkx3-1
- Nkx3-1 v1
- Nkx3-1 v2
- Nkx3-1 v3
- Nkx3-1 v4
- POU3F2
- RFX1
- Spz1
Genomic Locations for SMARCE1 Gene
Genomic Locations for SMARCE1 Gene
- chr17:40,624,962-40,648,654
- (GRCh38/hg38)
- Size:
- 23,693 bases
- Orientation:
- Minus strand
- chr17:38,781,214-38,804,760
- (GRCh37/hg19)
- Size:
- 23,547 bases
- Orientation:
- Minus strand
Genomic View for SMARCE1 Gene
Genes around SMARCE1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q21.2 by HGNC
- 17q21.2 by Entrez Gene
- 17q21.2 by Ensembl
SMARCE1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SMARCE1 Gene
Proteins for SMARCE1 Gene
-
Protein details for SMARCE1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q969G3-SMCE1_HUMAN
- Recommended name:
- SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
- Protein Accession:
- Q969G3
- B3KMC1
- B4DFR4
- C0IMW4
- C0IMW5
- C0IMW7
- H7C3F6
- O43539
Protein attributes for SMARCE1 Gene
- Size:
- 411 amino acids
- Molecular mass:
- 46649 Da
- Quaternary structure:
-
- Component of the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B), and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (PubMed:12672490, PubMed:22952240, PubMed:26601204). Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3 (PubMed:18765789). Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin. May be a component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin (ACTB) (PubMed:22952240, PubMed:26601204). Interacts with BRDT (By similarity). Also binds to the SRC/p160 family of histone acetyltransferases (HATs) composed of NCOA1, NCOA2, and NCOA3. Interacts with RCOR1/CoREST, NR3C1 and ZMIM2/ZIMP7 (PubMed:12192000, PubMed:12917342, PubMed:16051670).
Protein Expression for SMARCE1 Gene
Post-translational modifications for SMARCE1 Gene
- Ubiquitinated by TRIP12, leading to its degradation by the proteasome. Ubiquitination is prevented upon interaction between TRIP12 and SMARCC1.
-
Ubiquitination at Lys3, Lys92, Lys98, Lys131, Lys146, Lys240, Lys258, Lys271, and Lys277
- NX_Q969G3 (NX_Q969G3-1)
- Modification sites at PhosphoSitePlus
Other Protein References for SMARCE1 Gene
- ENSEMBL proteins:
-
- ENSP00000445370
- ENSP00000495021
- ENSP00000367039
- ENSP00000496097
- ENSP00000496094
- ENSP00000463405
- ENSP00000462857
- ENSP00000464511
- ENSP00000494815
- ENSP00000494214
- ENSP00000463216
- ENSP00000495857
- ENSP00000493649
- ENSP00000464501
- ENSP00000494505
- ENSP00000493729
- ENSP00000392958
- ENSP00000496546
- ENSP00000496445
- ENSP00000496311
- ENSP00000462475
- ENSP00000463282
- ENSP00000323967
- ENSP00000462381
- ENSP00000494771
- ENSP00000466608
- ENSP00000411607
- ENSP00000464061
- ENSP00000496661
- ENSP00000494537
- ENSP00000493974
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ SMARCE1 Antibody
- Atlas Antibodies Anti-SMARCE1 Antibody
-
Creative Biolabs
- Mouse Anti-SMARCE1 Recombinant Antibody (CBYY-1195)
- Mouse Anti-SMARCE1 Recombinant Antibody (CBXS-0546)
- Mouse Anti-SMARCE1 Recombinant Antibody (CBXS-5539)
- Mouse Anti-SMARCE1 Recombinant Antibody (2E9)
- Rabbit Anti-SMARCE1 Recombinant Antibody (CBYY-1196)
- Mouse Anti-SMARCE1 Recombinant Antibody (CBXS-5833)
- Rabbit Anti-SMARCE1 Recombinant Antibody (CBYY-1197)
- Mouse Anti-SMARCE1 Recombinant Antibody (CBXS-5538)
- Mouse Anti-SMARCE1 Recombinant Antibody (CBXS-5537)
- Mouse Anti-SMARCE1 Recombinant Antibody (2F1)
- Mouse Anti-SMARCE1 Recombinant Antibody (CBXS-5546)
- Mouse Anti-SMARCE1 Recombinant Antibody (1G7)
- Hi-Affi™ Recombinant Rabbit Anti-SMARCE1 Monoclonal Antibody (DS3333AB)
-
Custom Antibody ServicesOriGene Antibodies for SMARCE1
- Novus Biologicals Antibodies for SMARCE1
-
Abcam antibodies for SMARCE1
- Invitrogen Antibodies for SMARCE1 (AFLGC-SMARCE1)
-
Santa Cruz Biotechnology (SCBT) Antibodies for SMARCE1
Protein Products
- Atlas Antibodies PrEST Antigen SMARCE1
- Creative Biomart Recombinant Human SMARCE1 293 Cell Lysate
- Search Origene for MassSpec and Protein Over-expression Lysates for SMARCE1
- Origene Custom Protein Services for SMARCE1
-
Abcam proteins for SMARCE1
No data available for DME Specific Peptides for SMARCE1 Gene
Domains & Families for SMARCE1 Gene
Gene Families for SMARCE1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Transcription factors
Protein Domains for SMARCE1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SMARCE1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ55512, highly similar to SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 (B4DFR4_HUMAN)
- cDNA FLJ55202, highly similar to SWI/SNF-related matrix-associatedactin-dependent regulator of chromatin subfamily E member 1 (B4DGM3_HUMAN)
- BRG1-associated factor 57 (SMCE1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q969G3UniProtKB/Swiss-Prot:
SMCE1_HUMAN :- The HMG domain is essential for CD4 silencing and CD8 activation; mutation of this domain blocks thymus development.
- Domain:
-
- The HMG domain is essential for CD4 silencing and CD8 activation; mutation of this domain blocks thymus development.
Function for SMARCE1 Gene
Molecular function for SMARCE1 Gene
- UniProtKB/Swiss-Prot Function:
- Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Required for the coactivation of estrogen responsive promoters by SWI/SNF complexes and the SRC/p160 family of histone acetyltransferases (HATs). Also specifically interacts with the CoREST corepressor resulting in repression of neuronal specific gene promoters in non-neuronal cells.
Phenotypes From GWAS Catalog for SMARCE1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000978 | contributes_to RNA polymerase II proximal promoter sequence-specific DNA binding | HDA | 16217013 |
| GO:0000980 | contributes_to RNA polymerase II distal enhancer sequence-specific DNA binding | HDA | 16217013 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003682 | chromatin binding | TAS | 9435219 |
Phenotypes for SMARCE1 Gene
- MGI mutant phenotypes for SMARCE1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for SMARCE1:
-
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Downregulation of Wnt pathway after Wnt3A stimulation
- Increased Nanog expression
- Decreased viability
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- Upregulation of RLR pathway after Sendai virus (SeV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Strongly decreased CFP-tsO45G cell surface transport
- Decreased hepcidin::fluc mRNA expression
- Decreased NF-kappaB reporter expression
- shRNA abundance <= 50%
- Lamellipodia cells
Animal Models for SMARCE1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for SMARCE1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMARCE1
- genomics-online: gRNA clones - Search for available SMARCE1 gRNA products
- Overview of 164 available SMARCE1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for SMARCE1 - Select products 50% OFF >
- * SMARCE1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * SMARCE1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMARCE1
miRNA for SMARCE1 Gene
- miRTarBase miRNAs that target SMARCE1
-
- hsa-mir-155-5p (MIRT020807)
- hsa-mir-103a-3p (MIRT027099)
- hsa-mir-26b-5p (MIRT029727)
- hsa-mir-328-3p (MIRT043752)
- hsa-mir-30c-5p (MIRT047936)
- hsa-mir-1260b (MIRT052720)
- hsa-mir-516b-3p (MIRT077049)
- hsa-mir-516a-3p (MIRT077050)
- hsa-mir-7162-5p (MIRT077055)
- hsa-mir-3158-5p (MIRT077061)
- hsa-mir-3183 (MIRT287112)
- hsa-mir-4723-3p (MIRT287116)
- hsa-mir-6769b-3p (MIRT287119)
- hsa-mir-7110-3p (MIRT287120)
- hsa-mir-7111-3p (MIRT287121)
- hsa-mir-544a (MIRT505585)
- hsa-mir-4684-5p (MIRT505586)
- hsa-mir-376a-5p (MIRT505587)
- hsa-mir-17-3p (MIRT505588)
- hsa-mir-1205 (MIRT505589)
- hsa-mir-1184 (MIRT505590)
- hsa-mir-520f-5p (MIRT505591)
- hsa-mir-5571-5p (MIRT505592)
- hsa-mir-107 (MIRT505593)
- hsa-mir-8065 (MIRT554108)
- hsa-mir-376a-2-5p (MIRT554109)
- hsa-mir-1256 (MIRT554110)
- hsa-mir-4487 (MIRT554111)
- hsa-mir-558 (MIRT554112)
- hsa-mir-3160-3p (MIRT554113)
- hsa-mir-605-3p (MIRT554114)
- hsa-mir-6876-5p (MIRT554115)
- hsa-mir-4476 (MIRT554116)
- hsa-mir-3910 (MIRT554117)
- hsa-mir-196a-3p (MIRT641902)
- hsa-mir-3182 (MIRT641903)
- hsa-mir-4774-5p (MIRT641904)
- hsa-mir-4490 (MIRT641905)
- hsa-mir-6870-3p (MIRT641906)
- hsa-mir-6749-3p (MIRT653360)
- hsa-mir-6792-3p (MIRT653361)
- hsa-mir-4691-5p (MIRT653362)
- hsa-mir-4518 (MIRT653363)
- hsa-mir-1266-5p (MIRT653364)
- hsa-mir-5193 (MIRT653365)
- hsa-mir-4667-3p (MIRT653366)
- hsa-mir-6795-3p (MIRT653367)
- hsa-mir-6887-3p (MIRT653368)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for SMARCE1
- Browse OriGene Inhibitory RNA Products For SMARCE1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMARCE1
- genomics-online: shRNA clones - Search for available SMARCE1 shRNA products
- Overview of 164 available SMARCE1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for SMARCE1
- Addgene plasmids for SMARCE1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMARCE1
- Applied Biological Materials (abm): Clones for SMARCE1 - Select products 50% OFF >
- * SMARCE1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * SMARCE1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SMARCE1 Gene
Localization for SMARCE1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SMARCE1 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| mitochondrion | 1 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000228 | nuclear chromosome | TAS | 9435219 |
| GO:0000790 | nuclear chromatin | HDA | 16217013 |
| GO:0005634 | nucleus | IEA,IDA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0016514 | SWI/SNF complex | IDA,IEA | 8804307 |
Pathways & Interactions for SMARCE1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | AMPK Enzyme Complex Pathway |
Chromatin Remodeling
.01
|
AMPK Enzyme Complex Pathway
-
|
| 2 | Chromatin organization | ||
| 3 | Transcription Ligand-dependent activation of the ESR1/SP pathway | ||
| 4 | Gastric cancer | ||
| 5 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
.40
|
|
Pathways by source for SMARCE1 Gene
3 BioSystems pathways for SMARCE1 Gene
3 Reactome pathways for SMARCE1 Gene
2 KEGG pathways for SMARCE1 Gene
2 GeneGo (Thomson Reuters) pathways for SMARCE1 Gene
3 Qiagen pathways for SMARCE1 Gene
- AMPK Enzyme Complex Pathway
- Chromatin Remodeling
- Glucocorticoid Receptor Signaling
Interacting Proteins for SMARCE1 Gene
Selected Interacting proteins:
Q969G3-SMCE1_HUMAN
ENSP00000323967
for SMARCE1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SMARCE1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006325 | chromatin organization | IEA | -- |
| GO:0006337 | nucleosome disassembly | IDA,TAS | 8895581 |
| GO:0006338 | chromatin remodeling | IDA | 11726552 |
| GO:0006357 | regulation of transcription by RNA polymerase II | NAS | 8804307 |
| GO:0007399 | nervous system development | IEA | -- |
Drugs & Compounds for SMARCE1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Phenethyl isothiocyanate | Investigational | Pharma | Target | 14 |
Drug Products
- Atlas Antibodies PrEST Antigen SMARCE1
- Creative Biomart Recombinant Human SMARCE1 293 Cell Lysate
Transcripts for SMARCE1 Gene
mRNA/cDNA for SMARCE1 Gene
- (1) REFSEQ mRNAs :
- (17) Additional mRNA sequences :
- (568) Selected AceView cDNA sequences:
- (51) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000264640 2997 bps (ENST00000264640.9)
- ENST00000348513 5150 bps (ENST00000348513.11)
- ENST00000377808 2348 bps (ENST00000377808.9)
- ENST00000400122 2600 bps (ENST00000400122.8)
- ENST00000431889 1569 bps (ENST00000431889.6)
CRISPR Products
-
OriGene CRISPR knockouts for SMARCE1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMARCE1
- genomics-online: gRNA clones - Search for available SMARCE1 gRNA products
- Overview of 164 available SMARCE1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for SMARCE1 - Select products 50% OFF >
- * SMARCE1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * SMARCE1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMARCE1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for SMARCE1
- Browse OriGene Inhibitory RNA Products For SMARCE1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMARCE1
- genomics-online: shRNA clones - Search for available SMARCE1 shRNA products
- Overview of 164 available SMARCE1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for SMARCE1
- Addgene plasmids for SMARCE1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMARCE1
- Applied Biological Materials (abm): Clones for SMARCE1 - Select products 50% OFF >
- * SMARCE1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * SMARCE1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | · | 7d | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
| SP8: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP12: |
Expression for SMARCE1 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (20.6) and Blymphocyte (7.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SMARCE1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of SMARCE1 Gene:
SMARCE1SOURCE GeneReport for Unigene cluster for SMARCE1 Gene:
Hs.743978Evidence on tissue expression from TISSUES for SMARCE1 Gene
- Nervous system(4.9)
- Spleen(2.4)
- Heart(2.3)
- Kidney(2.2)
- Lung(2.1)
- Muscle(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SMARCE1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- meninges
- mouth
- neck
- nose
- outer ear
- pharynx
- scalp
- skull
- tooth
Thorax:
- chest wall
- clavicle
- diaphragm
- esophagus
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- biliary tract
- duodenum
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- stomach
Pelvis:
- pelvis
- penis
- rectum
- testicle
- ureter
- urethra
- uterus
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- hair
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for SMARCE1
-
OriGene qPCR primer pairs and template standards for SMARCE1
- genomics-online: primer clones - Search for available SMARCE1 Primer products
- Overview of 164 available SMARCE1 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SMARCE1 Gene
Orthologs for SMARCE1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SMARCE1 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SMARCE1 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SMARCE1 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Smarce1 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Smarce1 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SMARCE1 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
OneToMany | |
| -- 33 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | SMARCE1 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SMARCE1 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | smarce1 32 |
|
||
| Str.4851 32 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC52696 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | smarce1 33 32 32 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001994 32 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | dalao 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | swsn-3 33 32 |
|
OneToOne | |
| Y71H2AM.17 34 |
|
|
|||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToOne |
- Species where no ortholog for SMARCE1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for SMARCE1 Gene
- ENSEMBL:
- Gene Tree for SMARCE1 (if available)
- TreeFam:
- Gene Tree for SMARCE1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SMARCE1: view image
Paralogs for SMARCE1 Gene
Paralogs for SMARCE1 Gene
(4) SIMAP similar genes for SMARCE1 Gene using alignment to 11 proteins:
- SMCE1_HUMAN
- B4DGM3_HUMAN
- H7C048_HUMAN
- J3KS99_HUMAN
- J3KT85_HUMAN
- J3QKS7_HUMAN
- J3QKX6_HUMAN
- J3QL66_HUMAN
- J3QR61_HUMAN
- J3QS32_HUMAN
- K7EMQ8_HUMAN
Pseudogenes.org Pseudogenes for SMARCE1 Gene
Variants for SMARCE1 Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1060501394 | uncertain-significance, Meningioma, familial | 40,642,462(-) | C/T | coding_sequence_variant, missense_variant | |
| rs1060501395 | pathogenic, Meningioma, familial | 40,636,451(-) | G/A | coding_sequence_variant, stop_gained | |
| rs1060501396 | uncertain-significance, Meningioma, familial | 40,628,809(-) | T/C | coding_sequence_variant, missense_variant | |
| rs1060501397 | uncertain-significance, Meningioma, familial | 40,636,108(-) | A/G | intron_variant | |
| rs1060501398 | uncertain-significance, Meningioma, familial | 40,630,725(-) | G/A/C | coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2715910 | CNV | deletion | 23290073 |
| esv2758689 | CNV | gain | 17122850 |
| nsv1146669 | OTHER | inversion | 26484159 |
| nsv574994 | CNV | gain | 21841781 |
| nsv960102 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
14.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.98;
20.25% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SMARCE1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMARCE1 Gene
Disorders for SMARCE1 Gene
(15) MalaCards diseases for SMARCE1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| meningioma, familial |
|
|
| coffin-siris syndrome 5 |
|
|
| coffin-siris syndrome 1 |
|
|
| inherited cancer-predisposing syndrome |
|
|
| clear cell meningioma |
|
|
Search SMARCE1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SMCE1_HUMAN- Meningioma (MNGMA) [MIM:607174]: A common neoplasm of the central nervous system derived from arachnoidal cells. The majority of meningiomas are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Most cases are sporadic. Familial occurrence of meningioma is rare. {ECO:0000269 PubMed:23377182, ECO:0000269 PubMed:25249420}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
- Coffin-Siris syndrome 5 (CSS5) [MIM:616938]: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. {ECO:0000269 PubMed:22426308, ECO:0000269 PubMed:23906836}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SMARCE1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SMARCE1 Gene
Publications for SMARCE1 Gene
- BAF60a mediates critical interactions between nuclear receptors and the BRG1 chromatin-remodeling complex for transactivation. (PMID: 12917342) Hsiao PW … Archer TK (Molecular and cellular biology 2003) 3 4 23 56
- REST repression of neuronal genes requires components of the hSWI.SNF complex. (PMID: 12192000) Battaglioli E … Mandel G (The Journal of biological chemistry 2002) 3 4 23 56
- Architectural DNA binding by a high-mobility-group/kinesin-like subunit in mammalian SWI/SNF-related complexes. (PMID: 9435219) Wang W … Crabtree GR (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 56
- Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas. (PMID: 23377182) Smith MJ … Evans DG (Nature genetics 2013) 3 4 56
- Ubiquitin-dependent and ubiquitin-independent control of subunit stoichiometry in the SWI/SNF complex. (PMID: 20829358) Keppler BR … Archer TK (The Journal of biological chemistry 2010) 3 4 56
ExternalLinks
Products for SMARCE1 Gene
- Custom Antibody ServicesOriGene Antibodies for SMARCE1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for SMARCE1
- Origene Custom Protein Services for SMARCE1
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- Browse OriGene Inhibitory RNA Products For SMARCE1
- OriGene qPCR primer pairs for SMARCE1
- OriGene qPCR primer pairs and template standards for SMARCE1
- OriGene CRISPR knockouts for SMARCE1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SMARCE1
- Sino Biological Human cDNA Clone for SMARCE1
- Browse Sino Biological Recombinant Proteins
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- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SMARCE1
- Novus Biologicals proteins and lysates for SMARCE1
- Browse Antibodies
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- Abcam antibodies for SMARCE1
- Abcam proteins for SMARCE1
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- Browse Primary Antibodies
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- Invitrogen Antibodies for SMARCE1 (AFLGC-SMARCE1)
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- antibodies-online: Show 27 available SMARCE1 Antibodies ranked by validation data
- Compare Top SMARCE1 Antibodies
- antibodies-online: Search results for available SMARCE1 related products ranked by validation data
- antibodies-online: Show 5 available SMARCE1 Proteins ranked by validation data
- Compare Top SMARCE1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for SMARCE1
- Search Santa Cruz Biotechnology (SCBT) for SMARCE1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SMARCE1
- genomics-online: cdna clones - Search for available SMARCE1 CDNA products
- Overview of 164 available SMARCE1 gene related products
- orf clones - Search for available SMARCE1 ORF products
- Overview of 164 available SMARCE1 gene related products
- genomics-online: gRNA clones - Search for available SMARCE1 gRNA products
- Overview of 164 available SMARCE1 gene related products
- genomics-online: primer clones - Search for available SMARCE1 Primer products
- Overview of 164 available SMARCE1 gene related products
- genomics-online: shRNA clones - Search for available SMARCE1 shRNA products
- Overview of 164 available SMARCE1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMARCE1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMARCE1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SMARCE1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMARCE1
Sources for SMARCE1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
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- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
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- (169) LncBook
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- (178) GENCODE
- (179) TarBase
- (180) MyBioSource