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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SMARCA5 Gene

protein-coding   GIFtS: 60
GCID: GC04P144434

SWI/SNF Related, Matrix Associated, Actin Dependent Regulator...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of
Chromatin, Subfamily A, Member 51 2
     ISWI2
SNF2H2 3 5     hISWI2
Sucrose Nonfermenting Protein 2 Homolog2 3     Sucrose Nonfermenting-Like 52
WCRF1352 3     SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin
Subfamily A Member 52
hSNF2H2 3     EC 3.6.4.-3
SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin
A52 3
     EC 3.6.18

External Ids:    HGNC: 111011   Entrez Gene: 84672   Ensembl: ENSG000001531477   OMIM: 6033755   UniProtKB: O602643   

Export aliases for SMARCA5 gene to outside databases

Previous GC identifers: GC04P145230 GC04P144795 GC04P144900 GC04P145012 GC04P144792 GC04P144654 GC04P140164


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 williams syndrome, and primitive neuroectodermal tumor, and among its related super-pathways are Packaging Of Telomere Ends and Cell Cycle, Mitotic. GO annotations related to this gene include helicase activity and ATPase activity. An important paralog of this gene is CHD1L.

UniProtKB/Swiss-Prot: SMCA5_HUMAN, O60264
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

Gene Wiki entry for SMARCA5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.2  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMARCA5 gene promoter:
         Sp1   STAT5A   Tal-1beta   GATA-1   CREB   Egr-2   NRF-2   deltaCREB   IRF-7A   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMARCA5 promoter sequence
   Search SABiosciences Chromatin IP Primers for SMARCA5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMARCA5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q31.1-q31.2   Ensembl cytogenetic band:  4q31.21   HGNC cytogenetic band: 4q31.1-q31.2

SMARCA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMARCA5 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P144434:  view genomic region     (about GC identifiers)

Start:
144,434,616 bp from pter      End:
144,478,642 bp from pter
Size:
44,027 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SMCA5_HUMAN, O60264 (See protein sequence)
Recommended Name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5  
Size: 1052 amino acids; 121905 Da
Subunit: 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)
Subcellular location: Nucleus
Developmental stage: Overexpressed in CD34-positive erythrocyte progenitor cells in acute myeloid leukemia.
Down-regulation correlates with hematologic remission following chemotherapy

Explore the universe of human proteins at neXtProt for SMARCA5: NX_O60264

Explore proteomics data for SMARCA5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O60264

  • 4/27 DME Specific Peptides for SMARCA5 (O60264) (see all 27)
     PPKRERK  TGTPLQN  HPYLFDG  DSDWNPQ 

    SMARCA5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SMARCA5 Protein Expression
    REFSEQ proteins: NP_003592.3  
    ENSEMBL proteins: 
     ENSP00000283131  
    Reactome Protein details: O60264
    Human Recombinant Protein Products for SMARCA5: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for SMARCA5 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000793condensed chromosome IDA12972596
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005677chromatin silencing complex IEA--
    GO:0005730nucleolus IDA--

    SMARCA5 for ontologies           About GeneDecksing



    SMARCA5 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for SMARCA5 
    Cloud-Clone Corp. CLIAs for SMARCA5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/10 InterPro protein domains (see all 10):
     IPR015194 ISWI_HAND-dom
     IPR020838 DBINO
     IPR027417 P-loop_NTPase
     IPR017884 SANT_dom
     IPR000330 SNF2_N

    Graphical View of Domain Structure for InterPro Entry O60264

    ProtoNet protein and cluster: O60264

    2 Blocks protein domains:
    IPB000330 SNF2 related domain
    IPB002464 ATP-dependent helicase


    UniProtKB/Swiss-Prot: SMCA5_HUMAN, O60264
    Similarity: Belongs to the SNF2/RAD54 helicase family. ISWI subfamily
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain
    Similarity: Contains 2 SANT domains


    SMARCA5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SMCA5_HUMAN, O60264
    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

         Genatlas biochemistry entry for SMARCA5:
    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

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.-1

         Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IDA12972596
    GO:0003682chromatin binding ----
    GO:0004386helicase activity IEA--
    GO:0005515protein binding IPI10662543
         
    SMARCA5 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Smarca5):
     cellular  embryogenesis  integument  mortality/aging  pigmentation 
     tumorigenesis 

    SMARCA5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SMARCA5: Smarca5tm1Ais Smarca5tm1.1Ais

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SMARCA5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SMARCA5

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    miRNA
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    hsa-miR-3938 hsa-miR-300 hsa-miR-146a hsa-miR-1245 hsa-miR-30d hsa-miR-30a hsa-miR-3148 hsa-miR-556-3p
    SwitchGear 3'UTR luciferase reporter plasmidSMARCA5 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCA5


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SMARCA5 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Packaging Of Telomere Ends
    Nucleosome assembly0.46
    Deposition of New CENPA-containing Nucleosomes at the Centromere0.46
    2Cell Cycle
    Cell Cycle0.84
    3Meiotic Synapsis
    Chromosome Maintenance0.56
    4PEDF Induced Signaling
    Glucocorticoid Receptor Signaling0.43
    5Signal transduction Activin A signaling regulation
    Histone modification0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SMARCA5
        Histone modification

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SMARCA5
        AMPK Enzyme Complex Pathway
    BRCA1 Pathway
    Glucocorticoid Receptor Signaling
    Chromatin Remodeling

    4        Reactome Pathways for SMARCA5
        Nucleosome assembly
    Cell Cycle
    Deposition of New CENPA-containing Nucleosomes at the Centromere
    Chromosome Maintenance



    SMARCA5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SMARCA5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/961 Interacting proteins for SMARCA5 (O602641, 2, 3 ENSP000002831314) via UniProtKB, MINT, STRING, and/or I2D (see all 961)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628052, 3, ENSP000003529804MINT-2981755 MINT-2981779 I2D: score=7 STRING: ENSP00000352980
    HIST1H4LP628052, 3, ENSP000003482584MINT-2981755 MINT-2981779 I2D: score=7 STRING: ENSP00000348258
    HIST4H4P628052, 3, ENSP000003507674MINT-2981755 MINT-2981779 I2D: score=7 STRING: ENSP00000350767
    HIST1H4BP628052, 3MINT-2981755 MINT-2981779 I2D: score=7 
    HIST1H4CP628052, 3MINT-2981755 MINT-2981779 I2D: score=7 
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000183chromatin silencing at rDNA IEA--
    GO:0006200ATP catabolic process IDA12972596
    GO:0006302double-strand break repair IEA--
    GO:0006333chromatin assembly or disassembly ----
    GO:0006334nucleosome assembly TAS--

    SMARCA5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SMARCA5 (SMCA5)

    2 DrugBank Compounds for SMARCA5    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    4-Deoxy-Alpha-D-Glucose-- --target--17139284 17016423 10592235
    Beta-D-Glucose-- 50-99-7target--17139284 17016423 10592235

    Search CenterWatch for drugs/clinical trials and news about SMARCA5 / SMCA5

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SMARCA5 gene: 
    NM_003601.3  

    Unigene Cluster for SMARCA5:

    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
    Hs.558422  [show with all ESTs]
    Unigene Representative Sequence: NM_003601
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000283131(uc003ijg.3) ENST00000515531 ENST00000508573
    miRNA
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    Additional mRNA sequence: 

    AB010882.1 AF086544.1 AK123439.1 AK302841.1 AK308424.1 AK316444.1 AL157495.1 BC023144.1 

    15 DOTS entries:

    DT.119377  DT.100648167  DT.92443310  DT.100028947  DT.97817297  DT.102827757  DT.100786909  DT.100786902 
    DT.121220044  DT.75140788  DT.92443315  DT.92443317  DT.121220083  DT.95072957  DT.95079882 

    24/307 AceView cDNA sequences (see all 307):

    BE621971 CA442863 W96544 BM828760 AA743078 BM842196 CR596745 AL157495 
    AI357485 AA831102 CB120655 AA768238 CK820223 BU726115 BG054514 AA908487 
    W35419 D81709 BM263166 BF515148 AB010882 BQ946124 AU280259 AU120236 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SMARCA5 expression in normal human tissues (normalized intensities)      SMARCA5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAACTAGAAG
    SMARCA5 Expression
    About this image


    SMARCA5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/31 selected tissues (see all 31) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
             brain/midbrain   
     
     Epithelium (Reproductive System)    fully expand to see all 5 entries
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Nose (Sensory Organs)    fully expand to see all 3 entries
             nasopharynx ; respiratory epithelial cells   
             sensory organ/nose/nasal cavity   

    See SMARCA5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMARCA5

    SOURCE GeneReport for Unigene cluster: Hs.558422

    UniProtKB/Swiss-Prot: SMCA5_HUMAN, O60264
    Tissue specificity: Ubiquitously expressed

        SABiosciences Expression via Pathway-Focused PCR Arrays including SMARCA5: 
              Polycomb & Trithorax Complexes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SMARCA5 gene from 10/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smarca51 , 5 SWI/SNF related, matrix associated, actin dependent more1, 5 91.88(n)1
    97.72(a)1
      8 (38.41 cM)5
    937621  NM_053124.21  NP_444354.21 
     806985075 
    chicken
    (Gallus gallus)
    Aves SMARCA51 SWI/SNF related, matrix associated, actin dependent more 84.49(n)
    97.48(a)
      422457  XM_001234485.2  XP_001234486.2 
    lizard
    (Anolis carolinensis)
    Reptilia SMARCA56
    Uncharacterized protein
    94(a)
    1 ↔ 1
    5(118512476-118538168)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.88122 Xenopus laevis imitation switch ISWI (ISWI) mRNA, complete more 82.56(n)    AF292095.2 
    zebrafish
    (Danio rerio)
    Actinopterygii smarca51 SWI/SNF related, matrix associated, actin dependent more 74.86(n)
    89.71(a)
      282615  NM_001081629.1  NP_001075098.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Iswi3 chromatin assembly/disassembly DNA
    dependent adenosinetriphosphatase
    74(a)   49B10   --
    worm
    (Caenorhabditis elegans)
    Secernentea isw-16
    Chromatin-remodeling complex ATPase chain isw-1
    61(a)
    1 → many
    III(6703993-6710055)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ISW11 Isw1p 56.76(n)
    53.3(a)
      852547   NP_009804.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CHR171 chromatin remodeling factor17 58.92(n)
    57.54(a)
      831980  NM_121867.3  NP_568365.2 
    rice
    (Oryza sativa)
    Liliopsida AK105265.12   -- 74.66(n)    AK105265.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SMARCA5 gene
    CHD1L2  SMARCA12  
    18/19 SIMAP similar genes for SMARCA5 using alignment to 3 protein entries:     SMCA5_HUMAN (see all proteins) (see all similar genes):
    SMARCA1    INO80    CHD9    CHD8    CHD1L    CHD5
    HELLS    SRCAP    CHD2    CHD4    CHD3    SMARCA4
    ERCC6    CHD1    SMARCAD1    BTAF1    DKFZp434K213    DKFZp434P202

    SMARCA5 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for SMARCA5
    PGOHUM00000232894 PGOHUM00000233506


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/802 SNPs in SMARCA5 are shown (see all 802)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1501723161,2
    --144432689(+) GCCCTA/GATTGT 1 -- us2k10--------
    rs1872801921,2
    --144432882(+) TAGGAC/GACAGG 1 -- us2k10--------
    rs1478921181,2
    C--144432904(+) TCAAA-/AAAC  
            
    AAACA
    1 -- us2k10--------
    rs1928585891,2
    C--144433003(+) ACTGTA/TAAACC 1 -- us2k10--------
    rs1843839071,2
    --144433056(+) AGGTGC/TGGTGG 1 -- us2k10--------
    rs76953941,2
    C,F,A--144433099(+) ctaggC/Tgagca 1 -- us2k16Minor allele frequency- T:0.30WA NA CSA EA 364
    rs1386179801,2
    --144433235(+) AAGTCA/CTGAGA 1 -- us2k10--------
    rs1148600171,2
    F--144433239(+) CATGAG/CAATCC 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs778984631,2
    F--144433416(+) ACACCT/CAACTT 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1492468081,2
    --144433493(+) CATTGC/TAGGTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SMARCA5 (144434616 - 144478642 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SMARCA5:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv830103CNV Loss17160897
    dgv1682e1CNV Complex17122850
    dgv1684e1CNV Complex17122850
    dgv1683e1CNV Complex17122850
    dgv1681e1CNV Complex17122850

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603375    OMIM disorders: --

    14 diseases for SMARCA5:    About MalaCards
    williams syndrome    primitive neuroectodermal tumor    prostate adenocarcinoma    conjunctivitis
    acute leukemia    acute myeloid leukemia    sarcoma    gastric cancer
    myeloid leukemia    adenocarcinoma    hypoxia    thyroiditis
    prostatitis    leukemia


    SMARCA5 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for SMARCA5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    williams syndrome 69.3 1 16514417 (1)


    Export disorders for SMARCA5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SMARCA5 gene, integrated from 9 sources (see all 117):
    (articles sorted by number of sources associating them with SMARCA5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and mapping of SMARCA5 encoding hSNF2H, a novel human homologue of Drosophila ISWI. (PubMed id 9730600)1, 2, 3, 9 Aihara T....Nakamura Y. (1998)
    2. An ACF1-ISWI chromatin-remodeling complex is required for DNA replication through heterochromatin. (PubMed id 12434153)1, 2, 9 Collins N....Varga-Weisz P.D. (2002)
    3. A chromatin remodelling complex that loads cohesin onto human chromosomes. (PubMed id 12198550)1, 2, 9 Hakimi M.-A.... Shiekhattar R. (2002)
    4. The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription. (PubMed id 16603771)1, 2, 9 Cavellan E....Farrants A.K. (2006)
    5. The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci. (PubMed id 15543136)1, 2, 9 Poot R.A....Varga-Weisz P.D. (2004)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    7. Functional diversity of ISWI complexes. (PubMed id 15284901)1, 2 Dirscherl S.S. and Krebs J.E. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Functional analysis of the subunits of the chromatin assembly factor RSF. (PubMed id 12972596)1, 2 Loyola A.... Reinberg D. (2003)
    10. WSTF-ISWI chromatin remodeling complex targets heterochromatic replication foci. (PubMed id 11980720)1, 2 Bozhenok L.... Varga-Weisz P. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8467 HGNC: 11101 AceView: SMARCA5 Ensembl:ENSG00000153147 euGenes: HUgn8467
    ECgene: SMARCA5 H-InvDB: SMARCA5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SMARCA5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SMARCA5 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SMARCA5 gene:
    Search GeneIP for patents involving SMARCA5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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