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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
  • SNF2H 3 4 6
  • 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
  • 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 64
  • HISWI 3
  • ISWI 3

External Ids for SMARCA5 Gene

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 ewing sarcoma. Among its related pathways are Cell Cycle, Mitotic and PEDF Induced Signaling. GO annotations related to this gene include ATPase activity and helicase activity. An important paralog of this gene is CHD1L.

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

Genomic Location for SMARCA5 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SMARCA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMARCA5 Gene

Regulatory Elements 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
    Secondary Accessions:

    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).

neXtProt entry for SMARCA5 Gene

Proteomics data for SMARCA5 Gene at MOPED

Post-translational modifications for SMARCA5 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys132, Lys160, Lys176, Lys418, Lys430, Lys644, Lys647, Lys724, Lys836, Lys847, and Lys929

Other Protein References for SMARCA5 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for SMARCA5 Gene

UniProtKB/Swiss-Prot:

SMCA5_HUMAN
Domain:
  • Contains 1 helicase ATP-binding domain.:
    • O60264
  • Contains 1 helicase C-terminal domain.:
    • O60264
  • Contains 2 SANT domains.:
    • O60264
Family:
  • Belongs to the SNF2/RAD54 helicase family. ISWI subfamily.:
    • O60264
genes like me logo Genes that share domains with SMARCA5: view

No data available for Gene Families for SMARCA5 Gene

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 --
GO:0003677 DNA binding IDA 12972596
GO:0003682 chromatin binding --
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 10662543
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:

miRNA for SMARCA5 Gene

miRTarBase miRNAs that target SMARCA5

No data available for Transcription Factor Targeting 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 2
mitochondrion 1
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 --
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 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:0006200 obsolete ATP catabolic process --
GO:0006302 double-strand break repair IEA --
GO:0006333 chromatin assembly or disassembly --
GO:0006334 nucleosome assembly TAS --
genes like me logo Genes that share ontologies with SMARCA5: view

Compounds for SMARCA5 Gene

(2) Drugbank Compounds for SMARCA5 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
4-Deoxy-Alpha-D-Glucose
target
Beta-D-Glucose
50-99-7 target
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:

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SMARCA5 Gene

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 expressions with SMARCA5: view

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 36
  • 99.59 (n)
  • 99.9 (a)
SMARCA5 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMARCA5 36
  • 92.59 (n)
  • 98.1 (a)
SMARCA5 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMARCA5 36
  • 94.33 (n)
  • 98.57 (a)
SMARCA5 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smarca5 36
  • 91.84 (n)
  • 97.77 (a)
Smarca5 16
Smarca5 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SMARCA5 37
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMARCA5 37
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smarca5 36
  • 91.46 (n)
  • 99.2 (a)
chicken
(Gallus gallus)
Aves SMARCA5 36
  • 84.53 (n)
  • 97.58 (a)
SMARCA5 37
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMARCA5 37
  • 93 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8812 36
tropical clawed frog
(Silurana tropicalis)
Amphibia smarca5 36
  • 80.37 (n)
  • 93.84 (a)
Str.5889 36
zebrafish
(Danio rerio)
Actinopterygii smarca5 36
  • 75.41 (n)
  • 91.26 (a)
smarca5 37
  • 86 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Iswi 37
  • 71 (a)
OneToMany
Iswi 38
  • 74 (a)
worm
(Caenorhabditis elegans)
Secernentea isw-1 37
  • 62 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL040W 36
  • 53.94 (n)
  • 52.26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ISW1 36
  • 57.01 (n)
  • 53.68 (a)
ISW2 37
  • 45 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06710g 36
  • 55.65 (n)
  • 52.64 (a)
soybean
(Glycine max)
eudicotyledons Gma.10074 36
thale cress
(Arabidopsis thaliana)
eudicotyledons CHR11 36
  • 59.06 (n)
  • 58.69 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.12926 36
corn
(Zea mays)
Liliopsida Zm.10239 36
rice
(Oryza sativa)
Liliopsida Os01g0367900 36
  • 60.3 (n)
  • 59.05 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.3492 36
bread mold
(Neurospora crassa)
Ascomycetes NCU03875 36
  • 54.17 (n)
  • 55.87 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1499 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6886 37
  • 72 (a)
OneToMany
Species with no ortholog for SMARCA5:
  • 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

Selected SIMAP similar genes for SMARCA5 Gene using alignment to 3 proteins:

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 MAF
rs1044156 -- 143,553,696(+) TGGGA(A/G)AAGAA utr-variant-3-prime
rs1055808 -- 143,557,388(+) GACAA(C/T)CCAAA utr-variant-3-prime
rs1391191 -- 143,553,513(-) TGTTT(G/T)TAAGC utr-variant-3-prime
rs1497620 -- 143,557,104(+) GACAG(A/C)TTTTT utr-variant-3-prime
rs1510881 -- 143,517,929(-) GACAC(A/G)TAAGA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1681e1 CNV Complex 17122850
dgv1682e1 CNV Complex 17122850
dgv1683e1 CNV Complex 17122850
dgv1684e1 CNV Complex 17122850
nsv830103 CNV Loss 17160897

Relevant External Links for SMARCA5 Gene

HapMap Linkage Disequilibrium report
SMARCA5

Disorders for SMARCA5 Gene

(1) Novoseek inferred disease relationships for SMARCA5 Gene

Disease -log(P) Hits PubMed IDs
williams syndrome 69.3 1
genes like me logo Genes that share disorders with SMARCA5: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. A chromatin remodelling complex that loads cohesin onto human chromosomes. (PMID: 12198550) Hakimi M.-A. … Shiekhattar R. (Nature 2002) 3 4 23
  3. 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 23
  4. 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 23
  5. 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 23

Products for SMARCA5 Gene

Sources for SMARCA5 Gene

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