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SMARCE1 Gene

protein-coding   GIFtS: 61
GCID: GC17M038781

SWI/SNF Related, Matrix Associated, Actin Dependent Regulator...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of
Chromatin, Subfamily E, Member 11 2
BAF572 3 5
BRG1-Associated Factor 572 3
Chromatin Remodeling Complex BRG1-Associated Factor 572
SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin
E12
SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin
Subfamily E Member 12

External Ids:    HGNC: 111091   Entrez Gene: 66052   Ensembl: ENSG000000735847   OMIM: 6031115   UniProtKB: Q969G33   

Export aliases for SMARCE1 gene to outside databases

Previous GC identifers: GC17M038285 GC17M040959 GC17M038692 GC17M039157 GC17M036037 GC17M034578


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary 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 smarce1-related coffin-siris syndrome, and spinal meningioma. GO annotations related to this gene include chromatin binding and protein N-terminus binding.

UniProtKB/Swiss-Prot: SMCE1_HUMAN, Q969G3
Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling
(alteration of DNA-nucleosome topology). 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 post-mitotic 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 post-mitotic 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. Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, a
chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound
VDR-mediated transrepression of the CYP27B1 gene

Gene Wiki entry for SMARCE1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the SMARCE1 gene promoter:
         Nkx3-1   Nkx3-1 v4   RFX1   Spz1   Nkx3-1 v1   Nkx2-5   CUTL1   POU3F2   Nkx3-1 v2   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMARCE1 promoter sequence
   Search Chromatin IP Primers for SMARCE1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SMARCE1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21.2   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q21.2

SMARCE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMARCE1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M038781:  view genomic region     (about GC identifiers)

Start:
38,781,214 bp from pter      End:
38,804,760 bp from pter
Size:
23,547 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SMCE1_HUMAN, Q969G3 (See protein sequence)
Recommended Name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1  
Size: 411 amino acids; 46649 Da
Subunit: Component of 6 multiprotein chromatin-remodeling complexes: Swi/Snf-A (BAF), Swi/Snf-B (PBAF), Brm,
Brg1(I), WINAC and Brg1(II). Each of the five complexes 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/INI1). Other subunits specific to each of the complexes may also be present. Component of the BAF complex,
which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53,
ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of
SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. Also
binds to the SRC/p160 family of histone acetyltransferases (HATs) composed of NCOA1, NCOA2, and NCOA3. Component
of the WINAC complex, at least composed of SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCE1, ACTL6A,
BAZ1B/WSTF, ARID1A, SUPT16H, CHAF1A and TOP2B. Interacts with RCOR1/CoREST, NR3C1 and ZMIM2/ZIMP7. 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. Interacts with
BRDT (By similarity)
Secondary accessions: B3KMC1 B4DFR4 C0IMW4 C0IMW5 C0IMW7 H7C3F6 O43539
Alternative splicing: 6 isoforms:  Q969G3-1   Q969G3-2   Q969G3-3   Q969G3-4   Q969G3-5   Q969G3-6   

Explore the universe of human proteins at neXtProt for SMARCE1: NX_Q969G3

Explore proteomics data for SMARCE1 at MOPED

Post-translational modifications: 

  • Ubiquitinated by TRIP12, leading to its degradation by the proteasome. Ubiquitination is prevented upon
    interaction between TRIP12 and SMARCC11
  • Ubiquitination2 at Lys3, Lys92, Lys98, Lys131, Lys146, Lys240, Lys258, Lys271, Lys277
  • Modification sites at PhosphoSitePlus

  • See SMARCE1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003070.3  
    ENSEMBL proteins: 
     ENSP00000323967   ENSP00000464501   ENSP00000445370   ENSP00000367039   ENSP00000464511  
     ENSP00000462475   ENSP00000411607   ENSP00000466608   ENSP00000392958   ENSP00000463216  
     ENSP00000464061   ENSP00000462857   ENSP00000462381   ENSP00000463282   ENSP00000463405  
     ENSP00000441857  

    SMARCE1 Human Recombinant Protein Products:

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    Novus Biologicals SMARCE1 Proteins
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    Cloud-Clone Corp. Proteins for SMARCE1

    SMARCE1 Antibody Products:

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    ThermoFisher Antibody for SMARCE1
    LSBio Antibodies in human, mouse, rat for SMARCE1

    SMARCE1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for SMARCE1
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    Cloud-Clone Corp. ELISAs for SMARCE1
    Cloud-Clone Corp. CLIAs for SMARCE1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR009071 HMG_box_dom

    Graphical View of Domain Structure for InterPro Entry Q969G3

    ProtoNet protein and cluster: Q969G3

    UniProtKB/Swiss-Prot: SMCE1_HUMAN, Q969G3
    Domain: The HMG domain is essential for CD4 silencing and CD8 activation; mutation of this domain blocks thymus
    development (By similarity)
    Similarity: Contains 1 HMG box DNA-binding domain


    SMARCE1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SMCE1_HUMAN, Q969G3
    Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling
    (alteration of DNA-nucleosome topology). 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 post-mitotic 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 post-mitotic 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. Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, a
    chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound
    VDR-mediated transrepression of the CYP27B1 gene

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding TAS9435219
    GO:0003713transcription coactivator activity NAS8804307
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI12192000
         
    SMARCE1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SMARCE1:
     Lamellipodia and high actin ra 

         2 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Smarce1):
     immune system  mortality/aging 

    SMARCE1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMARCE1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SMARCE1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMARCE1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMARCE1

    miRNA
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    miRTarBase miRNAs that target SMARCE1:
    hsa-mir-155-5p (MIRT020807), hsa-mir-26b-5p (MIRT029727), hsa-mir-1260b (MIRT052720), hsa-mir-30c-5p (MIRT047936), hsa-mir-328-3p (MIRT043752), hsa-mir-103a-3p (MIRT027099)

    Block miRNA regulation of human, mouse, rat SMARCE1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SMARCE1 (see all 36):
    hsa-miR-21* hsa-miR-4291 hsa-miR-26a-2* hsa-miR-3653 hsa-miR-374a* hsa-miR-374c hsa-miR-1184 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidSMARCE1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SMARCE1
    Predesigned siRNA for gene silencing in human, mouse, rat SMARCE1

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCE1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SMCE1_HUMAN, Q969G3: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000228nuclear chromosome TAS9435219
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0016514SWI/SNF complex IDA11078522
    GO:0017053transcriptional repressor complex IPI12192000

    SMARCE1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SMARCE1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Transcription Ligand dependent activation of the ESR1 SP pathway
    Transcription Ligand dependent activation of the ESR1 SP pathway0.37
    Development Ligand dependent activation of the ESR1 AP 1 pathway0.37
    2AMPK Enzyme Complex Pathway
    Chromatin Remodeling0.00
    AMPK Enzyme Complex Pathway
    3PEDF Induced Signaling
    Glucocorticoid Receptor Signaling0.43
    4TNF-alpha/NF-kB Signaling Pathway
    TNF-alpha/NF-kB Signaling Pathway
    5Regulation of Androgen receptor activity
    Regulation of Androgen receptor activity

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SMARCE1
        AMPK Enzyme Complex Pathway
    Glucocorticoid Receptor Signaling
    Chromatin Remodeling

    2 GeneGo (Thomson Reuters) Pathways for SMARCE1
        Transcription Ligand-dependent activation of the ESR1/SP pathway
    Development Ligand-dependent activation of the ESR1/AP-1 pathway

    3 BioSystems Pathways for SMARCE1
        Androgen receptor signaling pathway
    TNF-alpha/NF-kB Signaling Pathway
    Regulation of Androgen receptor activity


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SMARCE1
    Interactions:

        GeneGlobe Interaction Network for SMARCE1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SMARCE1 (Q969G31, 2, 3 ENSP000003239674) via UniProtKB, MINT, STRING, and/or I2D (see all 859)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RCOR1Q9UKL01, 2, 3, ENSP000002622414EBI-455096,EBI-926563 MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000262241
    HDAC2Q927692, 3, ENSP000003813314MINT-7945693 MINT-7947479 I2D: score=4 STRING: ENSP00000381331
    ARID1AO144972, 3, ENSP000003204854MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000320485
    HDAC1Q135472, 3, ENSP000003626494MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000362649
    ACTBP607092, 3, ENSP000003499604MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000349960
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006337nucleosome disassembly IDA8895581
    GO:0006338chromatin remodeling IDA11726552
    GO:0006357regulation of transcription from RNA polymerase II promoter NAS8804307
    GO:0007399nervous system development IEA--
    GO:0008152metabolic process IDA12192000

    SMARCE1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SMARCE1 (SMCE1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SMARCE1 gene: 
    NM_003079.4  

    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000348513(uc002hux.2 uc010wff.1 uc010wfg.1 uc002huy.2 uc010wfh.1 uc010wfi.1)
    ENST00000578112(uc010wfj.1) ENST00000431889 ENST00000469334 ENST00000377808
    ENST00000578044 ENST00000580419 ENST00000400122 ENST00000264640 ENST00000447024
    ENST00000478349 ENST00000493660 ENST00000578995 ENST00000580654 ENST00000577721
    ENST00000481231 ENST00000583294 ENST00000582955
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    Selected qRT-PCR Assays for microRNAs that regulate SMARCE1 (see all 36):
    hsa-miR-21* hsa-miR-4291 hsa-miR-26a-2* hsa-miR-3653 hsa-miR-374a* hsa-miR-374c hsa-miR-1184 hsa-miR-9
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    GenScript: all cDNA clones in your preferred vector: SMARCE1 (NM_003079)
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SMARCE1
      QuantiTect SYBR Green Assays in human, mouse, rat SMARCE1
      QuantiFast Probe-based Assays in human, mouse, rat SMARCE1

    Selected AceView cDNA sequences (see all 568):

    CR625220 AA702801 AK001532 AI268248 BQ959751 BX429279 BF222281 BU170785 
    BU623142 AA576388 AW337524 CR600545 CD656346 BP350776 AA505937 BI223508 
    BQ639528 AI143798 BM800811 BM807140 AI652830 BQ685905 BU626519 AA865784 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SMARCE1 (see all 12)    About this scheme

    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:                                      -     -     -           -                 -     -     -                                                   


    ECgene alternative splicing isoforms for SMARCE1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    SMARCE1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATGAGTATG
    SMARCE1 Expression
    About this image


    SMARCE1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebellum
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Mesoderm (Gastrulation Derivatives)
             Limb Bud Mesenchyme Cells Limb Bud
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Bone (Muscoskeletal System)
             Bone Marrow
    SMARCE1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMARCE1 Protein Expression
        Custom PCR Arrays for SMARCE1
    Primer
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SMARCE1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smarce11 , 5 SWI/SNF related, matrix associated, actin dependent more1, 5 92.3(n)1
    97.32(a)1
      11 (62.92 cM)5
    573761  NM_020618.41  NP_065643.11 
     992090475 
    chicken
    (Gallus gallus)
    Aves SMARCE11 SWI/SNF related, matrix associated, actin dependent more 85.56(n)
    94.4(a)
      420047  NM_001006335.2  NP_001006335.2 
    lizard
    (Anolis carolinensis)
    Reptilia SMARCE16
    SWI/SNF related, matrix associated, actin dependen...
    88(a)
    1 ↔ 1
    6(70322676-70352551)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC526962 similar to SWI/SNF related, matrix associated, actin more 79.61(n)    AF487782.1 
    zebrafish
    (Danio rerio)
    Actinopterygii smarce12 SWI/SNF related, matrix associated, actin dependent more 76(n)   322248  BC044363.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dalao6
    dalao
    22(a)
    1 ↔ 1
    X(9043342-9046009)
    worm
    (Caenorhabditis elegans)
    Secernentea Y71H2AM.173
    swsn-31
    swsn-31 36(a)3
    47.5(n)1
    42.92(a)1
      III(2836469-2840484)3
    1753931  NM_065212.41  NP_497613.21 


    ENSEMBL Gene Tree for SMARCE1 (if available)
    TreeFam Gene Tree for SMARCE1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SMARCE1 gene
    4 SIMAP similar genes for SMARCE1 using alignment to 11 protein entries:     SMCE1_HUMAN (see all proteins):
    HMGB3    HMG20B    Bbtx1    TFAM

    SMARCE1 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for SMARCE1 (see all 9)
    PGOHUM00000258504 PGOHUM00000258577 PGOHUM00000258721 PGOHUM00000258761 PGOHUM00000263090


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SMARCE1 (see all 405)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs30330731,2
    C--38783971(+) TTTCA-/T/TT  
            
    TTTTT
    1 -- ds50011NA 2
    rs598357381,2
    C--38783971(+) TTTCA-/TTTTTTT 1 -- ds50010--------
    rs590787081,2
    C--38791560(+) TCTCTG/-GGTCT 1 -- int11Minor allele frequency- -:0.50NA 2
    rs38349721,2
    C--38803330(+) TATTG-/CTCTCTT 1 -- int10--------
    rs672586731,2
    C--38805487(+) TTGTT-/ATACTC
            
    ATGAA
    1 -- us2k10--------
    rs1912051851,2
    --39570430(+) ACCCAA/GTATCA 1 -- ds50010--------
    rs1834122391,2
    --39570463(+) GGAGGA/CTGAAC 1 -- ds50010--------
    rs1996787761,2
    C--39570539(+) CTGGT-/ACAGAGT 1 -- ds50010--------
    rs1866227061,2
    --39570632(+) TATTCC/TTGTTA 1 -- ds50010--------
    rs169660071,2
    C,F,H--39570717(+) AAACTG/AATTTT 1 -- ds500118Minor allele frequency- A:0.18NA NS EA WA 2186

    HapMap Linkage Disequilibrium report for SMARCE1 (38781214 - 38804760 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SMARCE1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2715910CNV Deletion23290073
    nsv908225CNV Loss21882294
    dgv960e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): SMARCE1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SMARCE1
    DNA2.0 Custom Variant and Variant Library Synthesis for SMARCE1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 603111   
    OMIM disorders: 607174  
    UniProtKB/Swiss-Prot: SMCE1_HUMAN, Q969G3
  • Note=Defects in SMARCE1 may be a cause of Coffin-Siris syndrome, a highly variable disease characterized
    by mental retardation associated with a broad spectrum of different clinical features

  • Selected diseases for SMARCE1 (see all 22):    
    About MalaCards
    smarce1-related coffin-siris syndrome    spinal meningioma    coffin-siris syndrome    familial meningioma
    meningioma    fanconi's anemia    endometrial carcinoma    herpes simplex
    mental retardation    tonsillitis    schizophrenia    asthma
    breast cancer    neuronitis    cerebritis    multiple myeloma
    thyroiditis    myeloma    prostate cancer    malaria

    2 diseases from the University of Copenhagen DISEASES database for SMARCE1:
    Coffin-Siris syndrome     Spinal meningioma

    SMARCE1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SMARCE1
    Human Genome Epidemiology (HuGE) Navigator: SMARCE1 (2 documents)

    Export disorders for SMARCE1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for SMARCE1 gene, integrated from 10 sources (see all 86):
    (articles sorted by number of sources associating them with SMARCE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Architectural DNA binding by a high-mobility-group/kinesin-like subunit in mammalian SWI/SNF-related complexes. (PubMed id 9435219)1, 2, 3 Wang W.... Crabtree G.R. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    2. REST repression of neuronal genes requires components of the hSWI.SNF complex. (PubMed id 12192000)1, 2, 9 Battaglioli E.... Mandel G. (J. Biol. Chem. 2002)
    3. BAF60a mediates critical interactions between nuclear receptors and the BRG1 chromatin-remodeling complex for transactivation. (PubMed id 12917342)1, 2, 9 Hsiao P.W.... Archer T.K. (Mol. Cell. Biol. 2003)
    4. Ubiquitin-dependent and ubiquitin-independent control of subunit stoichiometry in the SWI/SNF complex. (PubMed id 20829358)1, 2 Keppler B.R. and Archer T.K. (J. Biol. Chem. 2010)
    5. hZimp7, a novel PIAS-like protein, enhances androgen receptor- mediated transcription and interacts with SWI/SNF-like BAF complexes. (PubMed id 16051670)1, 2 Huang C.-Y....Sun Z. (Mol. Endocrinol. 2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Recent advances in understanding chromatin remodeling by SWI/SNF complexes. (PubMed id 12672490)1, 2 Martens J.A. and Winston F. (Curr. Opin. Genet. Dev. 2003)
    9. Targeting of SWI/SNF chromatin remodelling complexes to estrogen- responsive genes. (PubMed id 12145209)1, 2 Belandia B.... Parker M.G. (EMBO J. 2002)
    10. Reciprocal regulation of CD4/CD8 expression by SWI/SNF-like BAF complexes. (PubMed id 12110891)1, 2 Chi T.H....Crabtree G.R. (Nature 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6605 HGNC: 11109 AceView: SMARCE1andMGC45562 Ensembl:ENSG00000073584 euGenes: HUgn6605
    ECgene: SMARCE1 H-InvDB: SMARCE1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SMARCE1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SMARCE1 gene:
    Search GeneIP for patents involving SMARCE1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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