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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SMARCE1 Gene

protein-coding   GIFtS: 62
GCID: GC17M038781

SWI/SNF related, matrix associated, actin dependent regulator...
 Explore 9 diseases affiliated with
SMARCE1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SMARCE1    

Aliases
for SMARCE1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin,
Subfamily E, Member 11 2
BAF571 2 3
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


Summaries
for SMARCE1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SMARCE1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences 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 plasmid: SMARCE1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SMARCE1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SMARCE1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Nucleus
Secondary accessions: B3KMC1 O43539
Alternative splicing: 2 isoforms:  Q969G3-1   Q969G3-2   

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

Post-translational modifications:

  • Ubiquitinated by TRIP12, leading to its degradation by the proteasome. Ubiquitination is prevented upon interaction
    • between TRIP12 and SMARCC11
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q969G3

    • SMARCE1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    Human Recombinant Protein Products: 
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    Novus Biologicals SMARCE1 Proteins
    Novus Biologicals SMARCE1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SMARCE1

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000228nuclear chromosome TAS9435219
    GO:0005625soluble fraction ----
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0016514SWI/SNF complex IDA8804307


    SMARCE1 for ontologies           About GeneDecksing



    SMARCE1 Antibody Products: 
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    ThermoFisher Antibodies for SMARCE1

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    Uscn ELISAs and CLIAs for SMARCE1

    Protein Domains /
    Families
    for SMARCE1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SMARCE1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR009071 HMG_superfamily

    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


    Function
    for SMARCE1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SMARCE1
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    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 plasmid: SMARCE1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding TAS9435219
    GO:0003713transcription coactivator activity NAS8804307
    GO:0005515protein binding IPI17363140
    GO:0008080N-acetyltransferase activity IDA12192000


    SMARCE1 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for SMARCE1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Development_Ligand-dependent activation of the ESR1/AP-1 pathway
    		Development_Ligand-dependent activation of the ESR1/AP-1 pathway1.00
    		Transcription_Ligand-dependent activation of the ESR1/SP pathway0.37
    		Development Ligand-dependent activation of the ESR1/AP-1 pathway1.00
    		Chromatin Remodeling0.30
    		Transcription Ligand-dependent activation of the ESR1/SP pathway0.37
    2AMPK Enzyme Complex Pathway
    		AMPK Enzyme Complex Pathway1.00
    3TNF-alpha/NF-kB Signaling Pathway
    		TNF-alpha/NF-kB Signaling Pathway1.00
    4Regulation of Androgen receptor activity
    		Regulation of Androgen receptor activity1.00
    5Androgen receptor signaling pathway
    		Androgen receptor signaling pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for SMARCE1
        Development Ligand-dependent activation of the ESR1/AP-1 pathway
    Transcription Ligand-dependent activation of the ESR1/SP pathway

    3 Downloadable PowerPoint Slides of QIAGEN 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



    SMARCE1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SMARCE1

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

    5/809 Interacting proteins for SMARCE1 (Q969G31, 2, 3 ENSP000003239674) via UniProtKB, MINT, STRING, and/or I2D (see all 809)
    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): 5 biological process terms (GO ID links to tree view):    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:0045892negative regulation of transcription, DNA-dependent IDA12192000


    SMARCE1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SMARCE1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SMARCE1
    Search CenterWatch for drugs/clinical trials and news about SMARCE1 / SMCE1 

    Transcripts
    for SMARCE1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SMARCE1 gene: 
    NM_003079.4  

    Unigene Cluster for SMARCE1:

    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
    Hs.743978  [show with all ESTs]
    Unigene Representative Sequence: BC069196
    18/20 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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    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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    Inhib. RNA
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    Additional cDNA sequence: 

    AK001532.1 AK023653.1 AK095047.1 AK294218.1 AK294666.1 BC007082.1 BC011017.1 BC047731.1 
    BC063700.1 BC069196.1 BT007176.1 EU327017.1 EU327018.1 EU327019.1 EU327020.1 EU327021.1 

    24/38 DOTS entries (see all 38):

    DT.75184892  DT.207154  DT.91862855  DT.99956321  DT.95346373  DT.75100092  DT.100689198  DT.100890766 
    DT.40126855  DT.100766796  DT.102834831  DT.120794414  DT.75123215  DT.100683464  DT.100890761  DT.100890781 
    DT.120996198  DT.99959357  DT.100890783  DT.120996220  DT.95346359  DT.95346368  DT.100763964  DT.100842517 

    24/568 AceView cDNA sequences (see all 568):

    AI493610 CD656329 AK092967 AU132352 BM760512 BF378340 AI932909 BM474370 
    N35385 BE857142 BU742428 CA844318 CR626250 AI377071 AW516117 CK299411 
    BM766141 AA385956 BU630842 CR595985 BQ189244 BP353945 BQ923451 AI298193 

    GeneLoc Exon Structure

    5/12 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

    Expression
    for SMARCE1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SMARCE1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TATGAGTATG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SMARCE1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbLimb BudLimb Bud Mesenchyme CellsMesoderm
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SMARCE1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMARCE1

    SOURCE GeneReport for Unigene cluster: Hs.743978
        SABiosciences Custom PCR Arrays for SMARCE1
    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for SMARCE1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for SMARCE1 gene from 7/23 species (see all 23)    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 regulator of chromatin, subfamily e, member 1 less1, 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 regulator of chromatin, subfamily e, member 1 less 85.56(n)
    94.4(a)    		   420047  NM_001006335.2  NP_001006335.2 
    lizard
    (Anolis carolinensis)    		 Reptilia SMARCE16
    		 --
    		 92(a)
    		 1 ↔ 1
    		 6(70325619-70347096)
    African clawed frog
    (Xenopus laevis)    		 Amphibia MGC526962 similar to SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 less 79.61(n)    AF487782.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii smarce12 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 less 76(n)   322248  BC044363.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta dalao1 BRM-associated protein 111 52.33(n)
    48.55(a)    		   31846  NM_132302.3  NP_572530.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea Y71H2AM.173
    swsn-31    		 Protein SWSN-31 36(a)3
    47.76(n)1
    40.66(a)1    		   III(2836469-2840484)3
    1753931  NM_065212.31  NP_497613.21 


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

    Paralogs
    for SMARCE1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SMARCE1 gene
    6 SIMAP similar genes for SMARCE1 using alignment to 15 protein entries:     SMCE1_HUMAN (see all proteins):
    HMGB3    HMG20B    TOX4    Bbtx1    TOX2    TFAM

    SMARCE1 for paralogs           About GeneDecksing


    5/9 Pseudogenes.org Pseudogenes for SMARCE1 (see all 9)
    PGOHUM00000258504 PGOHUM00000258577 PGOHUM00000258721 PGOHUM00000258761 PGOHUM00000263090


    Genomic Variants
    for SMARCE1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/337 NCBI SNPs in SMARCE1 are shown (see all 337)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1912051851,2
    		--38783486(+) ACCCAA/GTATCA 1 -- ds50010--------
    rs1834122391,2
    		--38783519(+) GGAGGA/CTGAAC 1 -- ds50010--------
    rs1996787761,2
    		--38783595(+) CTGGT-/ACAGAGT 1 -- ds50010--------
    rs1866227061,2
    		--38783688(+) TATTCC/TTGTTA 1 -- ds50010--------
    rs169660071,2
    		C,F,H,--38783773(+) AAACTG/AATTTT 1 -- ds500118Minor allele frequency- A:0.18NA NS EA WA 2186
    rs1485250291,2
    		--38783960(+) TGAGAA/CCTTTT 1 -- ds50010--------
    rs598357381,2
    		C--38783971(+) TTTCA-/TTTTTTT 1 -- ds50010--------
    rs1915217361,2
    		--38784024(+) TATACC/TACTAT 1 -- ut310--------
    rs1428763271,2
    		--38784182(+) TAAAAC/TAATTT 1 -- ut310--------
    rs1828373761,2
    		--38784295(+) GATCTA/GTTCTG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SMARCE1 (38781214 - 38804760 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SMARCE1
         1 CNV: 4035
    Human Gene Mutation Database (HGMD): SMARCE1

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    Disorders / Diseases
    for SMARCE1 gene

    (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
    SMARCE1 for disorders           About GeneDecksing

    OMIM gene information: 603111    OMIM disorders: --

    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

    9 diseases for SMARCE1:    About MalaCards
    coffin-siris syndrome    cylindromatosis    fanconi's anemia    williams syndrome
    anemia    breast cancer    schizophrenia    prostatitis
    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for SMARCE1:
    Coffin-Siris syndrome     Spinal meningioma
    Human Genome Epidemiology (HuGE) Navigator: SMARCE1 (2 documents)

    Export disorders for SMARCE1 gene to outside databases

    Publications
    for SMARCE1 gene

    (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

    PubMed articles for SMARCE1 gene, integrated from 9 sources (see all 80):
    (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. (1998)
    2. REST repression of neuronal genes requires components of the hSWI.SNF complex. (PubMed id 12192000)1, 2, 9 Battaglioli E.... Mandel G. (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. (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. (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. (2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2004)
    8. Recent advances in understanding chromatin remodeling by SWI/SNF complexes. (PubMed id 12672490)1, 2 Martens J.A. and Winston F. (2003)
    9. Targeting of SWI/SNF chromatin remodelling complexes to estrogen- responsive genes. (PubMed id 12145209)1, 2 Belandia B.... Parker M.G. (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. (2002)

    External Searches for SMARCE1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SMARCE1 gene

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

    Other Databases showing SMARCE1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SMARCE1 gene

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

    Intellectual Property
    for SMARCE1 gene

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



    Products
    for SMARCE1 gene

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