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FLASH GENE
Symbol SMARCE1 contributors: mct - updated : 23-10-2010
HGNC name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
HGNC id 11109
Corresponding disease
CSSSCE1 Coffin-Siris syndrome
Location 17q21.2      Physical location : 38.783.975 - 38.804.103
Synonym name mammalian chromatin remodeling complex BRG1-associated factor 57
Synonym symbol(s) BAF57, SMARCE1r, BAF-57
DNA
TYPE functioning gene
STRUCTURE 37.48 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
Link-GEFII 17q21.2 Link guanine nucleotide exchange factor II WIRE 17q21.2 WIRE protein CDC6 17q21.3 CDC6 cell division cycle 6 homolog (S. cerevisiae) RARA 17q12 retinoic acid receptor, alpha GJC1 17q21.1 gap junction protein, chi 1, 31.9kDa (connexin 31.9) LOC390791 17 similar to peptidyl-Pro cis trans isomerase TOP2A 17q21.31 topoisomerase (DNA) II alpha 170kDa IGFBP4 17q12 insulin-like growth factor binding protein 4 CTEN 17q21.2 C-terminal tensin-like LOC284134 17q21.2 hypothetical LOC284134 CCR7 17q21.1 chemokine (C-C motif) receptor 7 SMARCE1 17q21.1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 MGC45562 17q21.2 hypothetical protein MGC45562 KRT24 17q11.2 keratin 24 KRT25B 17q21.2 keratin 25B KRT25A 17q21.2 keratin 25A KRT25C 17q21.2 keratin 25C KRT25D 17q21.2 keratin 25C MGC21518 17q21.2 hypothetical protein MGC21518 KRT12 17q21.1 keratin 12 (Meesmann corneal dystrophy) KRT20 17q21.2 keratin 20 KRT23 17q21.2 keratin 23 (histone deacetylase inducible) LOC390792 17 similar to type I hair keratin 6
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 2425 46.6 411 - 2010 20338169
- - - - - predominantly expressed in the nervous system 2009 19245665
  • truncated N-terminus
  • associate into protein complexes together with SMARCA4, SMARCA2, SMARCC1 and SMARCC2
  • contribute to functional SWI/SNF complexes regulating neurogenesis
    		•
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
     intestinelarge intestine   
     mouth   highly
     pharynx   highly
    Lymphoid/Immunespleen   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    Respiratoryalveolar macrophage
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    Text
  • placenta
  • constitutively expressed during development
    • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • putative nuclear localization signal
  • one HMG domain
  • a coiled-coil domain
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    text nuclear matrix
    basic FUNCTION
  • required for transcriptional activation of genes normally repressed by chromatin
  • required for the coactivation of estrogen responsive promoters by Swi/Snf complexes and the SRC/p160 family of histone acetyltransferases
  • accessory component of the remodeling complex, and a critical regulator of androgen receptor function
  • critical modulator of the androgen receptor (AR) that is capable of altering AR activity, coactivator function, and AR-dependent proliferation
  • important role as regulator of estrogen receptor functions in breast cancer cells
  • having a role within the SWI/SNF complex that is required for maintaining the proper subunit composition of the complex and cell cycle progression through the transcriptional regulation of a subset of cell cycle-related genes
  • involved in the repression of neuron specific genes
  • TSHZ3 and SMARCE1 cooperate to modulate MYOD activity on the MYOG promoter to regulate skeletal muscle differentiation
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component of five multiprotein chromatin remodelling complexes: Swi/Snf-A (BAF), Swi/Snf-B (PBAF), Brm, Brg1(I) and Brg1(II)
    INTERACTION
    DNA DNA binding
    RNA
    small molecule
    protein
  • binding to the SRC/p160 family of histone acetyltransferases (HATs) composed of NCOA1, NCOA2, and NCOA3
  • directly bind to the androgen receptor (AR) and is recruited to endogenous AR targets upon ligand activation
  • recruited to the AR DNA-binding domain/hinge region, which occurs concomitant with receptor activation
  • interacts with RCOR1, a protein that acts as a co-repressor of REST (RE1 silencing transcription factor), a transcription factor which represses neuronal genes in non-neuronal cells
  • interacted with SMARCA4 in oocytes and enhanced gene activation by thyroid hormone receptors cooperatively with SMARCA4
  • role of SMARCA4/SMARCE1-containing chromatin remodeling complexes in thyroid hormone receptors-regulated gene expression during postembryonic development
  • partner of TSHZ3
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CSSSCE1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in AR-dependent prostatic adenocarcinoma cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
  • blockade of AR-SMARCE1 interaction is a novel means to target agonist-induced AR function in prostate cancer, and provide the first evidence that abrogation of SWI/SNF function can be developed as a point of therapeutic intervention in prostate cancer
  • targeting SMARCE1 could represent a new way to effectively inhibit the action of ESR1 in breast cancer
    • ANIMAL & CELL MODELS
    Smarce1 is overexpressed in the hippocampus but not in the kidney of tau deficient mice