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Aliases for SMARCE1 Gene

Aliases for SMARCE1 Gene

  • SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily E, Member 1 2 3
  • BAF57 3 4 6
  • BRG1-Associated Factor 57 3 4
  • SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily E Member 1 3
  • SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin E1 3
  • Chromatin Remodeling Complex BRG1-Associated Factor 57 3

External Ids for SMARCE1 Gene

Previous GeneCards Identifiers for SMARCE1 Gene

  • GC17M038285
  • GC17M040959
  • GC17M038692
  • GC17M039157
  • GC17M036037
  • GC17M038781
  • GC17M034578

Summaries for SMARCE1 Gene

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. Among its related pathways are Transcription Ligand-dependent activation of the ESR1/SP pathway and Transcription Ligand-dependent activation of the ESR1/SP pathway. GO annotations related to this gene include chromatin binding and protein N-terminus binding.

UniProtKB/Swiss-Prot for SMARCE1 Gene

  • 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.

Gene Wiki entry for SMARCE1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMARCE1 Gene

Genomics for SMARCE1 Gene

Regulatory Elements for SMARCE1 Gene

Genomic Location for SMARCE1 Gene

Start:
40,624,962 bp from pter
End:
40,648,508 bp from pter
Size:
23,547 bases
Orientation:
Minus strand

Genomic View for SMARCE1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SMARCE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMARCE1 Gene

Proteins for SMARCE1 Gene

  • Protein details for SMARCE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969G3-SMCE1_HUMAN
    Recommended name:
    SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
    Protein Accession:
    Q969G3
    Secondary Accessions:
    • B3KMC1
    • B4DFR4
    • C0IMW4
    • C0IMW5
    • C0IMW7
    • H7C3F6
    • O43539

    Protein attributes for SMARCE1 Gene

    Size:
    411 amino acids
    Molecular mass:
    46649 Da
    Quaternary structure:
    • Component of a number of multiprotein chromatin-remodeling complexes: Swi/Snf-A (BAF), Swi/Snf-B (PBAF), Brm, Brg1(I) and Brg1(II). Each of the 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. 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).

    Alternative splice isoforms for SMARCE1 Gene

neXtProt entry for SMARCE1 Gene

Proteomics data for SMARCE1 Gene at MOPED

Post-translational modifications for SMARCE1 Gene

  • Ubiquitinated by TRIP12, leading to its degradation by the proteasome. Ubiquitination is prevented upon interaction between TRIP12 and SMARCC1.
  • Ubiquitination at Lys3, Lys92, Lys98, Lys131, Lys146, Lys240, Lys258, Lys271, and Lys277
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SMARCE1 Gene

Domains for SMARCE1 Gene

Protein Domains for SMARCE1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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.
  • Contains 1 HMG box DNA-binding domain.
genes like me logo Genes that share domains with SMARCE1: view

No data available for Gene Families for SMARCE1 Gene

Function for SMARCE1 Gene

Molecular function for SMARCE1 Gene

UniProtKB/Swiss-Prot Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). 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.

Gene Ontology (GO) - Molecular Function for SMARCE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 contributes_to RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 16217013
GO:0000980 contributes_to RNA polymerase II distal enhancer sequence-specific DNA binding IDA 16217013
GO:0003682 chromatin binding TAS 9435219
GO:0003713 transcription coactivator activity NAS 8804307
GO:0003723 RNA binding IEA --
genes like me logo Genes that share ontologies with SMARCE1: view

Phenotypes for SMARCE1 Gene

MGI mutant phenotypes for SMARCE1:
inferred from 3 alleles
GenomeRNAi human phenotypes for SMARCE1:
genes like me logo Genes that share phenotypes with SMARCE1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SMARCE1 Gene

Localization for SMARCE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMARCE1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMARCE1 Gene COMPARTMENTS Subcellular localization image for SMARCE1 gene
Compartment Confidence
nucleus 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SMARCE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome TAS 9435219
GO:0000790 nuclear chromatin IDA 16217013
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0016514 SWI/SNF complex IDA 11078522
genes like me logo Genes that share ontologies with SMARCE1: view

Pathways for SMARCE1 Gene

genes like me logo Genes that share pathways with SMARCE1: view

Gene Ontology (GO) - Biological Process for SMARCE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006337 nucleosome disassembly IDA 8895581
GO:0006338 chromatin remodeling IDA 11726552
GO:0006357 regulation of transcription from RNA polymerase II promoter NAS 8804307
GO:0007399 nervous system development IEA --
GO:0008152 metabolic process IDA 12192000
genes like me logo Genes that share ontologies with SMARCE1: view

Transcripts for SMARCE1 Gene

Unigene Clusters for SMARCE1 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SMARCE1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13
SP1: - - - - - -
SP2: - - - - - - -
SP3: -
SP4: - - - - - - -
SP5: - - - - - - -
SP6: - - - -
SP7: - - - - - - - - - - - -
SP8: - -
SP9: - - - - -
SP10: -
SP11: - - -
SP12:

Relevant External Links for SMARCE1 Gene

GeneLoc Exon Structure for
SMARCE1
ECgene alternative splicing isoforms for
SMARCE1

Expression for SMARCE1 Gene

mRNA expression in normal human tissues for SMARCE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SMARCE1 Gene

SOURCE GeneReport for Unigene cluster for SMARCE1 Gene Hs.743978

genes like me logo Genes that share expressions with SMARCE1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SMARCE1 Gene

Orthologs for SMARCE1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SMARCE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMARCE1 35
  • 99.76 (n)
  • 100 (a)
SMARCE1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMARCE1 35
  • 93.59 (n)
  • 96.59 (a)
SMARCE1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMARCE1 35
  • 95.3 (n)
  • 98.05 (a)
SMARCE1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smarce1 35
  • 92.3 (n)
  • 97.32 (a)
Smarce1 16
Smarce1 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SMARCE1 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 64 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Smarce1 35
  • 89.28 (n)
  • 95.64 (a)
chicken
(Gallus gallus)
Aves SMARCE1 35
  • 85.56 (n)
  • 94.4 (a)
SMARCE1 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMARCE1 36
  • 88 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC52696 35
tropical clawed frog
(Silurana tropicalis)
Amphibia smarce1 35
  • 79.03 (n)
  • 89.43 (a)
Str.4851 35
zebrafish
(Danio rerio)
Actinopterygii smarce1 35
  • 73.13 (n)
  • 79.85 (a)
smarce1 36
  • 74 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001994 35
  • 52.78 (n)
  • 52.67 (a)
fruit fly
(Drosophila melanogaster)
Insecta dalao 36
  • 22 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea swsn-3 35
  • 47.5 (n)
  • 42.92 (a)
swsn-3 36
  • 36 (a)
OneToOne
Y71H2AM.17 37
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
OneToOne
Species with no ortholog for SMARCE1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SMARCE1 Gene

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

Paralogs for SMARCE1 Gene

genes like me logo Genes that share paralogs with SMARCE1: view

No data available for Paralogs for SMARCE1 Gene

Variants for SMARCE1 Gene

Sequence variations from dbSNP and Humsavar for SMARCE1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs757412 -- 40,628,675(+) GTGGT(A/G)TGATA utr-variant-3-prime
rs1029791 -- 40,640,226(+) AGAAA(C/T)AGGCT intron-variant
rs1048572 -- 40,640,990(-) GTAAG(C/T)ATTTT intron-variant
rs1048573 -- 40,640,950(-) TTCTC(A/T)GTTAA intron-variant
rs1474454 -- 40,635,229(+) AGCAG(C/T)ATACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMARCE1 Gene

Variant ID Type Subtype PubMed ID
dgv960e1 CNV Complex 17122850
nsv908225 CNV Loss 21882294
esv2715910 CNV Deletion 23290073

Relevant External Links for SMARCE1 Gene

HapMap Linkage Disequilibrium report
SMARCE1
Human Gene Mutation Database (HGMD)
SMARCE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMARCE1 Gene

Disorders for SMARCE1 Gene

(1) OMIM Diseases for SMARCE1 Gene (603111)

UniProtKB/Swiss-Prot

SMCE1_HUMAN
  • Meningioma (MNGMA) [MIM:607174]: A common neoplasm of the central nervous system derived from arachnoidal cells. The majority of meningiomas are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Most cases are sporadic. Familial occurrence of meningioma is rare. {ECO:0000269 PubMed:23377182}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • 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.

(2) University of Copenhagen DISEASES for SMARCE1 Gene

Relevant External Links for SMARCE1

Genetic Association Database (GAD)
SMARCE1
Human Genome Epidemiology (HuGE) Navigator
SMARCE1
genes like me logo Genes that share disorders with SMARCE1: view

Publications for SMARCE1 Gene

  1. REST repression of neuronal genes requires components of the hSWI.SNF complex. (PMID: 12192000) Battaglioli E. … Mandel G. (J. Biol. Chem. 2002) 3 4 23
  2. BAF60a mediates critical interactions between nuclear receptors and the BRG1 chromatin-remodeling complex for transactivation. (PMID: 12917342) Hsiao P.W. … Archer T.K. (Mol. Cell. Biol. 2003) 3 4 23
  3. Architectural DNA binding by a high-mobility-group/kinesin-like subunit in mammalian SWI/SNF-related complexes. (PMID: 9435219) Wang W. … Crabtree G.R. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4
  4. BAF57 governs androgen receptor action and androgen-dependent proliferation through SWI/SNF. (PMID: 15743818) Link K.A. … Knudsen K.E. (Mol. Cell. Biol. 2005) 3 23
  5. The BRG1- and hBRM-associated factor BAF57 induces apoptosis by stimulating expression of the cylindromatosis tumor suppressor gene. (PMID: 16135788) Wang L. … Sif S. (Mol. Cell. Biol. 2005) 3 23

Products for SMARCE1 Gene

Sources for SMARCE1 Gene

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