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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 5
  • BRG1-Associated Factor 57 3 4
  • BAF57 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
  • CSS5 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 Meningioma, Familial and Coffin-Siris Syndrome 5. Among its related pathways are PEDF Induced Signaling and AMPK Enzyme Complex Pathway. Gene Ontology (GO) annotations related to this gene include RNA binding and transcription coactivator activity.

UniProtKB/Swiss-Prot for SMARCE1 Gene

  • Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. 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 postmitotic 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 postmitotic 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

Additional gene information for SMARCE1 Gene

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

Genomics for SMARCE1 Gene

GeneHancer (GH) Regulatory Elements for SMARCE1 Gene

Promoters and enhancers for SMARCE1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I040646 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 574.5 +0.6 578 2.9 HDGF MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 SMARCE1 ENSG00000278834 PGAP3 MSL1 MED24 GC17P040641 ENSG00000264058
GH17I040306 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 131.7 +331.0 330983 22.8 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 RARA MED1 SMARCE1 SNORD124 CDK12 MED24 MSL1 TMEM99 CDC6 WIPF2
GH17I040138 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 89.7 +508.2 508169 3.2 ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 MCM3 CASC3 GC17M040140 MED1 SNORD124 SMARCE1 CDK12 MED24 MSL1 STARD3 IGFBP4
GH17I039978 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 58.4 +668.0 668037 4 MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 PSMD3 MED1 CDK12 SMARCE1 GSDMA MSL1 MED24 SNORD124 LRRC3C ORMDL3
GH17I040088 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 43.2 +553.2 553161 14.4 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 NR1D1 CDK12 MED1 SMARCE1 MSL1 MED24 GSDMA CCR7 THRA RPL19
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SMARCE1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SMARCE1 gene promoter:

Genomic Locations for SMARCE1 Gene

Genomic Locations for SMARCE1 Gene
chr17:40,624,962-40,648,508
(GRCh38/hg38)
Size:
23,547 bases
Orientation:
Minus strand
chr17:38,781,214-38,804,760
(GRCh37/hg19)

Genomic View for SMARCE1 Gene

Genes around SMARCE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMARCE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex 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/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (PubMed:12672490, PubMed:22952240, PubMed:26601204). Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3 (PubMed:18765789). 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. May be a component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin (ACTB) (PubMed:22952240, PubMed:26601204). Interacts with BRDT (By similarity). 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 (PubMed:12192000, PubMed:12917342, PubMed:16051670).

    Alternative splice isoforms for SMARCE1 Gene

neXtProt entry for SMARCE1 Gene

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 isoforms=23, posLast=9292, posLast=9898, isoforms=2, 3, 4, 5, 6131, isoforms=2, 3, 4, 5, 6146, isoforms=2, 3, 4, 5, 6240, isoforms=2, 3, 4, 5, 6258, isoforms=2, 3, 4, 5, 6271, and isoforms=2, 3, 4, 5, 6277
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SMARCE1 Gene

Domains & Families for SMARCE1 Gene

Gene Families for SMARCE1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for SMARCE1 Gene

Graphical View of Domain Structure for InterPro Entry

Q969G3

UniProtKB/Swiss-Prot:

SMCE1_HUMAN :
  • The HMG domain is essential for CD4 silencing and CD8 activation; mutation of this domain blocks thymus development.
Domain:
  • The HMG domain is essential for CD4 silencing and CD8 activation; mutation of this domain blocks thymus development.
genes like me logo Genes that share domains with SMARCE1: view

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). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. 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 postmitotic 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 postmitotic 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.

Phenotypes From GWAS Catalog for SMARCE1 Gene

Gene Ontology (GO) - Molecular Function for SMARCE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 contributes_to RNA polymerase II proximal promoter sequence-specific DNA binding IDA,HDA 16217013
GO:0000980 contributes_to RNA polymerase II distal enhancer sequence-specific DNA binding IDA,HDA 16217013
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding TAS 9435219
GO:0003713 transcription coactivator activity NAS 8804307
genes like me logo Genes that share ontologies with SMARCE1: view
genes like me logo Genes that share phenotypes with SMARCE1: view

Human Phenotype Ontology for SMARCE1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SMARCE1 Gene

MGI Knock Outs for SMARCE1:

Animal Model Products

Clone Products

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

Localization for SMARCE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMARCE1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMARCE1 gene
Compartment Confidence
nucleus 5
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

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,HDA 16217013
GO:0005634 nucleus IEA,IDA --
GO:0005654 nucleoplasm IDA --
GO:0016514 SWI/SNF complex IEA,IDA 8804307
genes like me logo Genes that share ontologies with SMARCE1: view

Pathways & Interactions for SMARCE1 Gene

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

SIGNOR curated interactions for SMARCE1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SMARCE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006337 nucleosome disassembly TAS,IDA 8895581
GO:0006338 chromatin remodeling IDA 11726552
GO:0006357 regulation of transcription by RNA polymerase II NAS 8804307
GO:0007399 nervous system development IEA --
GO:0016569 covalent chromatin modification IEA --
genes like me logo Genes that share ontologies with SMARCE1: view

Drugs & Compounds for SMARCE1 Gene

(1) Drugs for SMARCE1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phenethyl isothiocyanate Investigational Pharma Target 12
genes like me logo Genes that share compounds 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for SMARCE1 Gene

Protein differential expression in normal tissues from HIPED for SMARCE1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.6) and Blymphocyte (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SMARCE1 Gene



Protein tissue co-expression partners for SMARCE1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SMARCE1 Gene:

SMARCE1

SOURCE GeneReport for Unigene cluster for SMARCE1 Gene:

Hs.743978

Evidence on tissue expression from TISSUES for SMARCE1 Gene

  • Nervous system(4.9)
  • Spleen(2.4)
  • Heart(2.3)
  • Kidney(2.2)
  • Lung(2.1)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SMARCE1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • scalp
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • penis
  • rectum
  • testicle
  • ureter
  • urethra
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with SMARCE1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 34 33
  • 99.76 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SMARCE1 34 33
  • 95.3 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SMARCE1 34 33
  • 93.59 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Smarce1 33 16 34
  • 92.3 (n)
rat
(Rattus norvegicus)
Mammalia Smarce1 33
  • 89.28 (n)
oppossum
(Monodelphis domestica)
Mammalia SMARCE1 34
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 75 (a)
OneToMany
-- 34
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves SMARCE1 34 33
  • 85.56 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMARCE1 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smarce1 33
  • 79.03 (n)
Str.4851 33
African clawed frog
(Xenopus laevis)
Amphibia MGC52696 33
zebrafish
(Danio rerio)
Actinopterygii smarce1 33 34
  • 73.13 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001994 33
  • 52.78 (n)
fruit fly
(Drosophila melanogaster)
Insecta dalao 34
  • 22 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea swsn-3 33 34
  • 47.5 (n)
Y71H2AM.17 35
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
OneToOne
Species where no ortholog for SMARCE1 was found in the sources mined by GeneCards:
  • 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

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 Variation AA Info Type
rs1060501394 uncertain-significance, Meningioma, familial 40,642,462(-) C/T coding_sequence_variant, missense_variant
rs1060501395 pathogenic, Meningioma, familial 40,636,451(-) G/A coding_sequence_variant, stop_gained
rs1060501396 uncertain-significance, Meningioma, familial 40,628,809(-) T/C coding_sequence_variant, missense_variant
rs1060501397 uncertain-significance, Meningioma, familial 40,636,108(-) A/G intron_variant
rs1060501398 uncertain-significance, Meningioma, familial 40,630,725(-) G/A/C coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2715910 CNV deletion 23290073
esv2758689 CNV gain 17122850
nsv1146669 OTHER inversion 26484159
nsv574994 CNV gain 21841781
nsv960102 CNV duplication 23825009

Variation tolerance for SMARCE1 Gene

Residual Variation Intolerance Score: 14.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.98; 20.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMARCE1 Gene

Human Gene Mutation Database (HGMD)
SMARCE1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMARCE1

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

Disorders for SMARCE1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for SMARCE1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
meningioma, familial
  • meningioma, familial, susceptibility to
coffin-siris syndrome 5
  • css5
coffin-siris syndrome 1
  • css1
clear cell meningioma
meningothelial meningioma
  • meningotheliomatous meningioma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SMCE1_HUMAN
  • Coffin-Siris syndrome 5 (CSS5) [MIM:616938]: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. {ECO:0000269 PubMed:22426308, ECO:0000269 PubMed:23906836}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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, ECO:0000269 PubMed:25249420}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for SMARCE1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SMARCE1: view

No data available for Genatlas for SMARCE1 Gene

Publications for SMARCE1 Gene

  1. BAF60a mediates critical interactions between nuclear receptors and the BRG1 chromatin-remodeling complex for transactivation. (PMID: 12917342) Hsiao PW … Archer TK (Molecular and cellular biology 2003) 3 4 22 58
  2. REST repression of neuronal genes requires components of the hSWI.SNF complex. (PMID: 12192000) Battaglioli E … Mandel G (The Journal of biological chemistry 2002) 3 4 22 58
  3. Architectural DNA binding by a high-mobility-group/kinesin-like subunit in mammalian SWI/SNF-related complexes. (PMID: 9435219) Wang W … Crabtree GR (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 58
  4. Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas. (PMID: 23377182) Smith MJ … Evans DG (Nature genetics 2013) 3 4 58
  5. Ubiquitin-dependent and ubiquitin-independent control of subunit stoichiometry in the SWI/SNF complex. (PMID: 20829358) Keppler BR … Archer TK (The Journal of biological chemistry 2010) 3 4 58

Products for SMARCE1 Gene