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

SMARCC1 Gene

protein-coding   GIFtS: 63
GCID: GC03M047626

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)
About This Section

Aliases
SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of
Chromatin, Subfamily C, Member 11 2
     Rsc82
BAF1552 3 5     SRG32
BRG1-Associated Factor 1552 3     SWI32
SWI/SNF Complex 155 KDa Subunit2 3     Chromatin Remodeling Complex BAF155 Subunit2
SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin
Subfamily C Member 12 3
     Mammalian Chromatin Remodeling Complex BRG1-Associated Factor 1552
CRACC12     SWI/SNF Complex Subunit SMARCC12

External Ids:    HGNC: 111041   Entrez Gene: 65992   Ensembl: ENSG000001734737   OMIM: 6017325   UniProtKB: Q929223   

Export aliases for SMARCC1 gene to outside databases

Previous GC identifers: GC03M047432 GC03M046832 GC03M047587 GC03M047602


(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 SMARCC1 Gene:
The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and
ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin
structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex
SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. (provided by RefSeq,
Jul 2008)

GeneCards Summary for SMARCC1 Gene: 
SMARCC1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1) is a protein-coding gene. Diseases associated with SMARCC1 include williams syndrome, and thymoma, and among its related super-pathways are Development Ligand-dependent activation of the ESR1/AP-1 pathway and PGC1Alpha Pathway. GO annotations related to this gene include chromatin binding and protein N-terminus binding. An important paralog of this gene is SMARCC2.

UniProtKB/Swiss-Prot: SMRC1_HUMAN, Q92922
Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling
(alteration of DNA-nucleosome topology). May stimulate the ATPase activity of the catalytic subunit of the
complex. 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. 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)

Gene Wiki entry for SMARCC1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMARCC1 gene promoter:
         STAT5B   c-Fos   STAT1   AP-1   p53   STAT1beta   STAT1alpha   FOXO1a   c-Jun   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMARCC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SMARCC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMARCC1


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

Entrez Gene cytogenetic band: 3p21.31   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.31

SMARCC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMARCC1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M047626:  view genomic region     (about GC identifiers)

Start:
47,626,762 bp from pter      End:
47,823,596 bp from pter
Size:
196,835 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SMRC1_HUMAN, Q92922 (See protein sequence)
Recommended Name: SWI/SNF complex subunit SMARCC1  
Size: 1105 amino acids; 122867 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 or SMARCA2),
and at least SMARCE1, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCC2 and SMARCB1. 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, 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. May also interact with the SIN3A histone deacetylase transcription repressor complex
in conjunction with SMARCA2 and SMARCA4. The minimal complex composed of SMARCC1 and SMARCA4 seems to be able to
associate with cyclin such as CCNE1 or transcription factors such as KLF1 or GATA1. 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 NR3C1 and SMARD1. Component of neural progenitors-specific
chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B,
SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155,
SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin
remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A,
SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57,
SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (By similarity). Interacts with TRIP12; leading
to disrupt interaction between TRIP12 and SMARCE1 and prevent SMARCE1 ubiquitination
Subcellular location: Nucleus
Sequence caution: Sequence=AAH39843.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAH65253.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence;
1 PDB 3D structure from and Proteopedia for SMARCC1:
2YUS (3D)    
Secondary accessions: Q17RS0 Q6P172 Q8IWH2

Explore the universe of human proteins at neXtProt for SMARCC1: NX_Q92922

Explore proteomics data for SMARCC1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on undefined residues at the G2/M transition by ERK1 and other kinases. This may contribute to cell
    cycle specific inactivation of remodeling complexes containing the phosphorylated protein
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92922

  • SMARCC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SMARCC1 Protein Expression
    REFSEQ proteins: NP_003065.3  
    ENSEMBL proteins: 
     ENSP00000254480   ENSP00000414266  

    Human Recombinant Protein Products for SMARCC1: 
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    Novus Biologicals SMARCC1 Protein
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for SMARCC1 

    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:0001741XY body IEA--
    GO:0005622intracellular ----
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0016514SWI/SNF complex IDA10078207

    SMARCC1 for ontologies           About GeneDecksing



    SMARCC1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of SMARCC1
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    Abcam antibodies for SMARCC1
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    LSBio Antibodies in human, mouse, rat for SMARCC1 

    Assay Products for SMARCC1: 
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    GenScript Custom Assay Services for SMARCC1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SMARCC1 
    Cloud-Clone Corp. CLIAs for SMARCC1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR011991 WHTH_DNA-bd_dom
     IPR017884 SANT_dom
     IPR000953 Chromo_domain/shadow
     IPR001005 SANT/Myb
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q92922

    ProtoNet protein and cluster: Q92922

    4 Blocks protein domains:
    IPB000953 Chromo domain
    IPB001005 Myb DNA-binding domain
    IPB001357 BRCT domain
    IPB007526 SWIRM


    UniProtKB/Swiss-Prot: SMRC1_HUMAN, Q92922
    Similarity: Belongs to the SMARCC family
    Similarity: Contains 1 SANT domain
    Similarity: Contains 1 SWIRM domain


    SMARCC1 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SMRC1_HUMAN, Q92922
    Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling
    (alteration of DNA-nucleosome topology). May stimulate the ATPase activity of the catalytic subunit of the
    complex. 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. 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)

         Genatlas biochemistry entry for SMARCC1:
    general transcriptional activator S cerevisiae SWI/SNF related protein,matrix associated,actin-dependent regulator
    of chromatin,subfamily C,member 1,component of the chromatin remodeling complex,ubiquitously expressed

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding IEA--
    GO:0003713transcription coactivator activity NAS8804307
    GO:0005515protein binding IPI10078207
    GO:0047485protein N-terminus binding IPI12917342
         
    SMARCC1 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Smarcc1):
     cellular  embryogenesis  hematopoietic system  immune system  mortality/aging 
     nervous system 

    SMARCC1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Smarcc1tm1Rhs for SMARCC1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SMARCC1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SMARCC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMARCC1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMARCC1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SMARCC1
    8/67 QIAGEN miScript miRNA Assays for microRNAs that regulate SMARCC1 (see all 67):
    hsa-miR-218-1* hsa-miR-1245 hsa-miR-374a hsa-miR-3122 hsa-miR-3148 hsa-miR-761 hsa-miR-877 hsa-miR-130a*
    SwitchGear 3'UTR luciferase reporter plasmidSMARCC1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SMARCC1
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCC1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SMARCC1 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Development Ligand-dependent activation of the ESR1/AP-1 pathway
    Development Ligand-dependent activation of the ESR1/AP-1 pathway0.37
    Chromatin Remodeling0.30
    Transcription Ligand-dependent activation of the ESR1/SP pathway0.37
    2PEDF Induced Signaling
    Glucocorticoid Receptor Signaling0.43
    3Prostate Cancer
    Prostate Cancer0.32
    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

    2 EMD Millipore Pathways for SMARCC1
        Development Ligand-dependent activation of the ESR1/AP-1 pathway
    Transcription Ligand-dependent activation of the ESR1/SP pathway

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SMARCC1
        AMPK Enzyme Complex Pathway
    BRCA1 Pathway
    Glucocorticoid Receptor Signaling
    Chromatin Remodeling

    1 Cell Signaling Technology (CST) Pathway for SMARCC1
        Chromatin Regulation / Acetylation

    2 GeneGo (Thomson Reuters) Pathways for SMARCC1
        Transcription Ligand-dependent activation of the ESR1/SP pathway
    Development Ligand-dependent activation of the ESR1/AP-1 pathway

    4 BioSystems Pathways for SMARCC1
        TNF-alpha/NF-kB Signaling Pathway
    Prostate Cancer
    Regulation of Androgen receptor activity
    Glucocorticoid receptor regulatory network



    SMARCC1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SMARCC1

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

    5/882 Interacting proteins for SMARCC1 (Q929221, 2, 3 ENSP000002544804) via UniProtKB, MINT, STRING, and/or I2D (see all 882)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMARCD1Q96GM51, 2, 3, ENSP000003784144EBI-355653,EBI-358489 MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000378414
    SMARCB1Q128242, 3, ENSP000002631214MINT-7945693 MINT-7894924 MINT-7947479 I2D: score=4 STRING: ENSP00000263121
    ARID1AO144972, 3, ENSP000003204854MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000320485
    NCOR1O753762, 3, ENSP000002687124MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000268712
    SMARCA2P515312, 3, ENSP000002657734MINT-7945693 MINT-7894924 I2D: score=2 STRING: ENSP00000265773
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006337nucleosome disassembly IDA8895581
    GO:0006338chromatin remodeling IDA10078207
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter NAS8804307
    GO:0007399nervous system development IEA--

    SMARCC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 SMARCC1 (SMRC1)

    Search CenterWatch for drugs/clinical trials and news about SMARCC1 / SMRC1

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SMARCC1 gene: 
    NM_003074.3  

    Unigene Cluster for SMARCC1:

    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1
    Hs.476179  [show with all ESTs]
    Unigene Representative Sequence: NM_003074
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000254480(uc011bbc.1 uc003crq.2 uc011bbd.1) ENST00000425518
    ENST00000492896 ENST00000483847 ENST00000462198 ENST00000485737 ENST00000485833
    ENST00000454240
    miRNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMARCC1
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    Additional mRNA sequence: 

    AK302412.1 AK302541.1 BC012101.1 BC021862.1 BC032564.1 BC039843.1 BC040242.1 BC050564.1 
    BC065253.1 BC113465.1 BC117213.1 U66615.1 

    22 DOTS entries:

    DT.95201837  DT.95129928  DT.100825872  DT.100825871  DT.75109361  DT.95110404  DT.91821173  DT.91895404 
    DT.97858717  DT.100825870  DT.100825873  DT.120866373  DT.120866376  DT.75158819  DT.91652800  DT.92005006 
    DT.92451597  DT.92451606  DT.95201816  DT.95201879  DT.95201891  DT.100825874 

    24/442 AceView cDNA sequences (see all 442):

    CD616216 AU125461 BE813908 AI417171 T31467 AI093415 BC039843 BU845740 
    BU845008 AA732501 AA972925 AA600334 AI885909 BF221495 BF510256 AA630696 
    AL045873 AI570851 BI064318 AA135680 BU931025 AW502835 CD653192 AA889549 

    GeneLoc Exon Structure


    (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

    SMARCC1 expression in normal human tissues (normalized intensities)      SMARCC1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTCTCAGTG
    SMARCC1 Expression
    About this image


    SMARCC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/28 selected tissues (see all 28) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             testis ; cells in seminiferus ducts   
             sperm   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             bone marrow cd34+   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   

    See SMARCC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMARCC1

    SOURCE GeneReport for Unigene cluster: Hs.476179

    UniProtKB/Swiss-Prot: SMRC1_HUMAN, Q92922
    Tissue specificity: Expressed in brain, heart, muscle, placenta, lung, liver, muscle, kidney and pancreas

        SABiosciences Expression via Pathway-Focused PCR Array including SMARCC1: 
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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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SMARCC1 gene from 8/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smarcc11 , 5 SWI/SNF related, matrix associated, actin dependent more1, 5 88.9(n)1
    95.74(a)1
      9 (59.87 cM)5
    205881  NM_009211.21  NP_033237.21 
     1101320375 
    chicken
    (Gallus gallus)
    Aves SMARCC11 SWI/SNF related, matrix associated, actin dependent more 80.36(n)
    89.24(a)
      420378  XM_003640669.1  XP_003640717.1 
    lizard
    (Anolis carolinensis)
    Reptilia SMARCC16
    Uncharacterized protein
    83(a)
    1 ↔ 1
    GL343620.1(306121-417630)
    African clawed frog
    (Xenopus laevis)
    Amphibia smarcc1-prov2 SWI/SNF related, matrix associated, actin dependent more 79.12(n)    BC044014.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.126442 Danio rerio, Similar to SWI/SNF related, matrix associated, more 74.74(n)    BC047827.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mor3 chromatin modeling general RNA
    polymerase II transcription more
    45(a)   3 89A11   --
    worm
    (Caenorhabditis elegans)
    Secernentea swsn-16
    Protein SWSN-1, isoform a
    37(a)
    1 → many
    V(20239245-20249484)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SWI36
    Subunit of the SWI/SNF chromatin remodeling comple...
    25(a)
    1 → many
    X(92053-94530)


    ENSEMBL Gene Tree for SMARCC1 (if available)
    TreeFam Gene Tree for SMARCC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SMARCC1 gene
    SMARCC22  
    2 SIMAP similar genes for SMARCC1 using alignment to 5 protein entries:     SMRC1_HUMAN (see all proteins):
    SMARCC2    DKFZp313D0632

    SMARCC1 for paralogs           About GeneDecksing



    (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) 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

    10/3201 SNPs in SMARCC1 are shown (see all 3201)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1435997011,2
    C--47626936(+) CACTCA/GATTTA 1 -- int10--------
    rs1914780651,2
    --47626987(+) GGTTTA/GTATCT 1 -- int10--------
    rs793942301,2
    C,F--47627073(+) CTAAAC/TTGCAT 1 -- int11Minor allele frequency- T:0.02NA 120
    rs783436831,2
    C--47627268(+) AAGCCC/TGAGTC 1 -- int10--------
    rs1824509591,2
    --47627304(+) CAAGAC/TCAGGT 1 -- int10--------
    rs1879781671,2
    --47627408(+) TATTCA/GCTGAA 1 -- ut310--------
    rs1924295201,2
    --47627431(+) TAGGCC/TTTCTT 1 -- ut310--------
    rs1140405121,2
    --47627438(+) TCTTCA/GTTCAT 1 -- ut310--------
    rs2007196591,2
    --47627533(+) TTATT-/CCCCCC 1 -- ut310--------
    rs1834276161,2
    --47627539(+) CCCCCC/TCCTCA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SMARCC1 (47626762 - 47823596 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for SMARCC1 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv274306CNV Insertion20981092
    nsv508916CNV Insertion20534489
    nsv3807CNV Insertion18451855
    nsv3808CNV Insertion18451855
    esv269273CNV Insertion20981092
    nsv231CNV Insertion15895083
    nsv237419CNV Loss16902084
    nsv834679CNV Loss17160897
    nsv428417CNV Loss18775914
    nsv876759CNV Gain21882294


    Human Gene Mutation Database (HGMD): SMARCC1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601732    OMIM disorders: --

    15 diseases for SMARCC1:    About MalaCards
    williams syndrome    thymoma    conjunctivitis    fanconi's anemia
    colon adenocarcinoma    anemia    schizophrenia    colorectal cancer
    lung cancer    prostate cancer    adenocarcinoma    prostatitis
    leukemia    breast cancer    neuronitis


    SMARCC1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SMARCC1
    Human Genome Epidemiology (HuGE) Navigator: SMARCC1 (2 documents)

    Export disorders for SMARCC1 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

    PubMed articles for SMARCC1 gene, integrated from 9 sources (see all 133):
    (articles sorted by number of sources associating them with SMARCC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Diversity and specialization of mammalian SWI/SNF complexes. (PubMed id 8804307)1, 2, 3 Wang W.... Crabtree G.R. (1996)
    2. 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)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    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. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PubMed id 19367581)1, 4 So H.C....Sham P.C. (2009)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    7. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (2004)
    8. 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)
    9. Purification and characterization of mSin3A-containing Brg1 and hBrm chromatin remodeling complexes. (PubMed id 11238380)1, 2 Sif S.... Kingston R.E. (2001)
    10. Functional selectivity of recombinant mammalian SWI/SNF subunits. (PubMed id 11018012)1, 2 Kadam S....Emerson B.M. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 6599 HGNC: 11104 AceView: SMARCC1 Ensembl:ENSG00000173473 euGenes: HUgn6599
    ECgene: SMARCC1 H-InvDB: SMARCC1

    (According to HUGE)
    About This Section
      --

    (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 SMARCC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SMARCC1 gene:
    Search GeneIP for patents involving SMARCC1

    Licensable Technologies for SMARCC1 gene:
     Salk Institute: Method of Regulating Transcription in a Cell and Methods of Modulating Gene Expression
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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