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Aliases for SMARCA5 Gene

Aliases for SMARCA5 Gene

  • SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 5 2 3 5
  • SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin A5 3 4
  • Sucrose Nonfermenting Protein 2 Homolog 3 4
  • WCRF135 3 4
  • HSNF2H 3 4
  • SNF2H 3 4
  • SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily A Member 5 3
  • Sucrose Nonfermenting-Like 5 3
  • EC 3.6.4.- 4
  • EC 3.6.1 61
  • HISWI 3
  • ISWI 3

External Ids for SMARCA5 Gene

Previous GeneCards Identifiers for SMARCA5 Gene

  • GC04P145230
  • GC04P144795
  • GC04P144900
  • GC04P145012
  • GC04P144792
  • GC04P144654
  • GC04P144434
  • GC04P140164

Summaries for SMARCA5 Gene

Entrez Gene Summary for SMARCA5 Gene

  • The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for SMARCA5 Gene

SMARCA5 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 5) is a Protein Coding gene. Diseases associated with SMARCA5 include Extraskeletal Ewing Sarcoma and Williams-Beuren Syndrome. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and DNA Double Strand Break Response. GO annotations related to this gene include nucleic acid binding and hydrolase activity. An important paralog of this gene is SMARCA1.

UniProtKB/Swiss-Prot for SMARCA5 Gene

  • Helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity. Complexes containing SMARCA5 are capable of forming ordered nucleosome arrays on chromatin; this may require intact histone H4 tails. Also required for replication of pericentric heterochromatin in S-phase specifically in conjunction with BAZ1A. Probably plays a role in repression of polI dependent transcription of the rDNA locus, through the recruitment of the SIN3/HDAC1 corepressor complex to the rDNA promoter. Essential component of the WICH complex, a chromatin remodeling complex that mobilizes nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array structure. The WICH complex regulates the transcription of various genes, has a role in RNA polymerase I and RNA polymerase III transcription, mediates the histone H2AX phosphorylation at Tyr-142, and is involved in the maintenance of chromatin structures during DNA replication processes. Essential component of the NoRC (nucleolar remodeling complex) complex, a complex that mediates silencing of a fraction of rDNA by recruiting histone-modifying enzymes and DNA methyltransferases, leading to heterochromatin formation and transcriptional silencing.

Gene Wiki entry for SMARCA5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMARCA5 Gene

Genomics for SMARCA5 Gene

Regulatory Elements for SMARCA5 Gene

Enhancers for SMARCA5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F142695 1.1 Ensembl ENCODE 11.3 -812.1 -812066 11.4 HDAC1 ESRRA PKNOX1 INSM2 FEZF1 ZFHX2 GATA3 HES1 EGR2 SCRT1 SMARCA5 INPP4B PIR53759 LOC105377457
GH04F143351 1.2 FANTOM5 Ensembl ENCODE 3 -156.3 -156263 12.0 FEZF1 GATA2 CBX5 FOS JUNB TBX21 CREB3 MEF2D SMARCA4 ZSCAN16 USP38 SMARCA5 GAB1 RPS2P20 RPSAP36
GH04F143230 0.3 FANTOM5 1.7 -282.6 -282553 0.1 JUNB CREM GAB1 USP38 SMARCA5 FREM3 LOC105377623 ENSG00000250969
GH04F143512 0.2 ENCODE 0.8 +0.8 827 3.4 HDGF ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 KLF13 GUSBP5 SMARCA5 SMARCA5-AS1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SMARCA5 on UCSC Golden Path with GeneCards custom track

Promoters for SMARCA5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001435821 1038 3800 HDGF ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 KLF13

Genomic Location for SMARCA5 Gene

Chromosome:
4
Start:
143,513,463 bp from pter
End:
143,557,489 bp from pter
Size:
44,027 bases
Orientation:
Plus strand

Genomic View for SMARCA5 Gene

Genes around SMARCA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMARCA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMARCA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMARCA5 Gene

Proteins for SMARCA5 Gene

  • Protein details for SMARCA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60264-SMCA5_HUMAN
    Recommended name:
    SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5
    Protein Accession:
    O60264

    Protein attributes for SMARCA5 Gene

    Size:
    1052 amino acids
    Molecular mass:
    121905 Da
    Quaternary structure:
    • Catalytic subunit of the four known chromatin-remodeling complexes: CHRAC, RSF, ACF/WCRF, and WICH. Each complex contains subunits which may regulate the specificity or catalytic activity of SMARCA5. ACF/WCRF contains BAZ1A; CHRAC contains BAZ1A, CHRAC1, and POLE3; RSF contains RSF1; WICH contains BAZ1B/WSTF. SMARCA5 is the catalytic subunit of the NoRC chromatin-remodeling complex, which also contains BAZ2A/TIP5. The BAZ2A/TIP5 subunit of NoRC also interacts with DNMT1, DNMT3B and HDAC1, which allows NoRC to actively suppress rDNA transcription by a combination of nucleosome remodeling, histone deacetylation, and DNA methylation. Catalytic subunit of SMARCA5/cohesin/NuRD complexes. Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21. Interacts with MYO1C (By similarity). Interacts with BEND3.

neXtProt entry for SMARCA5 Gene

Post-translational modifications for SMARCA5 Gene

  • Ubiquitination at Lys 132, Lys 160, Lys 176, Lys 418, Lys 430, Lys 644, Lys 647, Lys 724, Lys 836, and Lys 847
  • Modification sites at PhosphoSitePlus

Other Protein References for SMARCA5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for SMARCA5 (SMARCA5/SNF2H)
  • Cell Signaling Technology (CST) Antibodies for SMARCA5 (SMARCA5)

Domains & Families for SMARCA5 Gene

Gene Families for SMARCA5 Gene

Suggested Antigen Peptide Sequences for SMARCA5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60264

UniProtKB/Swiss-Prot:

SMCA5_HUMAN :
  • Contains 1 helicase ATP-binding domain.
  • Belongs to the SNF2/RAD54 helicase family. ISWI subfamily.
Domain:
  • Contains 1 helicase ATP-binding domain.
  • Contains 1 helicase C-terminal domain.
  • Contains 2 SANT domains.
Family:
  • Belongs to the SNF2/RAD54 helicase family. ISWI subfamily.
genes like me logo Genes that share domains with SMARCA5: view

Function for SMARCA5 Gene

Molecular function for SMARCA5 Gene

GENATLAS Biochemistry:
general transcriptional activator S cerevisiae SWI/SNF related protein,matrix associated,actin-dependent regulator of chromatin,subfamily A,member 5,component of the chromatin remodeling complex,Drosophila ISWI (initiator of SWI) homolog,widely expressed
UniProtKB/Swiss-Prot Function:
Helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity. Complexes containing SMARCA5 are capable of forming ordered nucleosome arrays on chromatin; this may require intact histone H4 tails. Also required for replication of pericentric heterochromatin in S-phase specifically in conjunction with BAZ1A. Probably plays a role in repression of polI dependent transcription of the rDNA locus, through the recruitment of the SIN3/HDAC1 corepressor complex to the rDNA promoter. Essential component of the WICH complex, a chromatin remodeling complex that mobilizes nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array structure. The WICH complex regulates the transcription of various genes, has a role in RNA polymerase I and RNA polymerase III transcription, mediates the histone H2AX phosphorylation at Tyr-142, and is involved in the maintenance of chromatin structures during DNA replication processes. Essential component of the NoRC (nucleolar remodeling complex) complex, a complex that mediates silencing of a fraction of rDNA by recruiting histone-modifying enzymes and DNA methyltransferases, leading to heterochromatin formation and transcriptional silencing.

Enzyme Numbers (IUBMB) for SMARCA5 Gene

Gene Ontology (GO) - Molecular Function for SMARCA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA,IDA 12972596
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 10655480
GO:0005524 ATP binding IEA,IDA 12972596
genes like me logo Genes that share ontologies with SMARCA5: view
genes like me logo Genes that share phenotypes with SMARCA5: view

Animal Models for SMARCA5 Gene

MGI Knock Outs for SMARCA5:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SMARCA5 Gene

Localization for SMARCA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMARCA5 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMARCA5 Gene COMPARTMENTS Subcellular localization image for SMARCA5 gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 3
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SMARCA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000793 condensed chromosome IDA 12972596
GO:0005634 nucleus IDA 12972596
GO:0005654 nucleoplasm TAS --
GO:0005677 chromatin silencing complex IEA --
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with SMARCA5: view

Pathways & Interactions for SMARCA5 Gene

genes like me logo Genes that share pathways with SMARCA5: view

Gene Ontology (GO) - Biological Process for SMARCA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000183 chromatin silencing at rDNA IEA --
GO:0006302 double-strand break repair IEA --
GO:0006333 chromatin assembly or disassembly IEA --
GO:0006334 nucleosome assembly IDA 12972596
GO:0006338 chromatin remodeling IEA,IDA 9836642
genes like me logo Genes that share ontologies with SMARCA5: view

No data available for SIGNOR curated interactions for SMARCA5 Gene

Drugs & Compounds for SMARCA5 Gene

(2) Drugs for SMARCA5 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
4-Deoxy-Alpha-D-Glucose Experimental Pharma Target 0
Beta-D-Glucose Experimental Pharma Target 0
genes like me logo Genes that share compounds with SMARCA5: view

Transcripts for SMARCA5 Gene

mRNA/cDNA for SMARCA5 Gene

Unigene Clusters for SMARCA5 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMARCA5 Gene

No ASD Table

Relevant External Links for SMARCA5 Gene

GeneLoc Exon Structure for
SMARCA5
ECgene alternative splicing isoforms for
SMARCA5

Expression for SMARCA5 Gene

mRNA expression in normal human tissues for SMARCA5 Gene

Protein differential expression in normal tissues from HIPED for SMARCA5 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.7) and Lymph node (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SMARCA5 Gene



Protein tissue co-expression partners for SMARCA5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SMARCA5 Gene:

SMARCA5

SOURCE GeneReport for Unigene cluster for SMARCA5 Gene:

Hs.558422

mRNA Expression by UniProt/SwissProt for SMARCA5 Gene:

O60264-SMCA5_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with SMARCA5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SMARCA5 Gene

Orthologs for SMARCA5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SMARCA5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMARCA5 34 35
  • 99.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SMARCA5 35
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SMARCA5 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMARCA5 34 35
  • 94.33 (n)
cow
(Bos Taurus)
Mammalia SMARCA5 34 35
  • 92.59 (n)
mouse
(Mus musculus)
Mammalia Smarca5 34 16 35
  • 91.84 (n)
rat
(Rattus norvegicus)
Mammalia Smarca5 34
  • 91.46 (n)
chicken
(Gallus gallus)
Aves SMARCA5 34 35
  • 84.53 (n)
lizard
(Anolis carolinensis)
Reptilia SMARCA5 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smarca5 34
  • 80.37 (n)
Str.5889 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.8812 34
zebrafish
(Danio rerio)
Actinopterygii smarca5 34 35
  • 75.41 (n)
fruit fly
(Drosophila melanogaster)
Insecta Iswi 36 35
  • 74 (a)
worm
(Caenorhabditis elegans)
Secernentea isw-1 35
  • 62 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ISW1 34
  • 57.01 (n)
ISW2 35
  • 45 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06710g 34
  • 55.65 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL040W 34
  • 53.94 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons CHR11 34
  • 59.06 (n)
soybean
(Glycine max)
eudicotyledons Gma.10074 34
rice
(Oryza sativa)
Liliopsida Os01g0367900 34
  • 60.3 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.12926 34
wheat
(Triticum aestivum)
Liliopsida Ta.3492 34
corn
(Zea mays)
Liliopsida Zm.10239 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6886 35
  • 72 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU03875 34
  • 54.17 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1499 34
Species where no ortholog for SMARCA5 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for SMARCA5 Gene

ENSEMBL:
Gene Tree for SMARCA5 (if available)
TreeFam:
Gene Tree for SMARCA5 (if available)

Paralogs for SMARCA5 Gene

Paralogs for SMARCA5 Gene

Pseudogenes.org Pseudogenes for SMARCA5 Gene

genes like me logo Genes that share paralogs with SMARCA5: view

Variants for SMARCA5 Gene

Sequence variations from dbSNP and Humsavar for SMARCA5 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs10007913 -- 143,556,051(+) CTAAT(A/C)AAAAA utr-variant-3-prime
rs10013458 -- 143,525,830(+) AAACA(A/G)AAGTG intron-variant
rs10033674 -- 143,535,287(+) ATATA(C/T)GGTTC intron-variant
rs1044156 -- 143,553,696(+) TGGGA(A/G)AAGAA nc-transcript-variant, utr-variant-3-prime
rs1055808 -- 143,557,388(+) GACAA(C/T)CCAAA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SMARCA5 Gene

Variant ID Type Subtype PubMed ID
esv2759288 CNV gain+loss 17122850
nsv830103 CNV loss 17160897
nsv964101 CNV duplication 23825009

Variation tolerance for SMARCA5 Gene

Residual Variation Intolerance Score: 4.43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.36; 7.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMARCA5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMARCA5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMARCA5 Gene

Disorders for SMARCA5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SMARCA5 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
extraskeletal ewing sarcoma
  • extraosseous ewing sarcoma
williams-beuren syndrome
  • fanconi schlesinger syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SMARCA5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMARCA5
genes like me logo Genes that share disorders with SMARCA5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMARCA5 Gene

Publications for SMARCA5 Gene

  1. Cloning and mapping of SMARCA5 encoding hSNF2H, a novel human homologue of Drosophila ISWI. (PMID: 9730600) Aihara T. … Nakamura Y. (Cytogenet. Cell Genet. 1998) 2 3 4 22 64
  2. The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription. (PMID: 16603771) Cavellan E. … Oestlund Farrants A.-K. (J. Biol. Chem. 2006) 3 4 22 64
  3. The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci. (PMID: 15543136) Poot R.A. … Varga-Weisz P.D. (Nat. Cell Biol. 2004) 3 4 22 64
  4. A chromatin remodelling complex that loads cohesin onto human chromosomes. (PMID: 12198550) Hakimi M.-A. … Shiekhattar R. (Nature 2002) 3 4 22 64
  5. An ACF1-ISWI chromatin-remodeling complex is required for DNA replication through heterochromatin. (PMID: 12434153) Collins N. … Varga-Weisz P.D. (Nat. Genet. 2002) 3 4 22 64

Products for SMARCA5 Gene

Sources for SMARCA5 Gene

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