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

SMARCA1 Gene

protein-coding   GIFtS: 64
GCID: GC0XM128580

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


(Previous symbols: SNF2L1, SNF2L)
  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 11 2
     SWI2
SNF2L11 2 3 5     SWI22
SNF2L1 2 3     Global Transcription Activator Homologous Sequence2
Nucleosome-Remodeling Factor Subunit SNF2L2 3     Probable Global Transcription Activator SNF2L12
ATP-Dependent Helicase SMARCA12 3     SNF2-Like 12
ISWI2     Sucrose Nonfermenting 2-Like Protein 12
NURF1402     EC 3.6.4.-3
SNF2LB2     SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin
Subfamily A Member 13
SNF2LT2     EC 3.6.18

External Ids:    HGNC: 110971   Entrez Gene: 65942   Ensembl: ENSG000001020387   OMIM: 3000125   UniProtKB: P283703   

Export aliases for SMARCA1 gene to outside databases

Previous GC identifers: GC0XM123226 GC0XM125426 GC0XM126525 GC0XM127286 GC0XM128306 GC0XM128408 GC0XM117987


(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 SMARCA1 Gene:
This gene encodes a member of the SWI/SNF family of proteins. The encoded protein is an ATPase which is expressed
in diverse tissues and contributes to the chromatin remodeling complex that is involved in transcription. The
protein may also play a role in DNA damage, growth inhibition and apoptosis of cancer cells. Alternative splicing
results in multiple transcript variants. (provided by RefSeq, Sep 2013)

GeneCards Summary for SMARCA1 Gene: 
SMARCA1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1) is a protein-coding gene. Diseases associated with SMARCA1 include rhabdoid cancer, and alpha thalassemia, and among its related super-pathways are PGC1Alpha Pathway and Development Ligand-dependent activation of the ESR1/AP-1 pathway. GO annotations related to this gene include nucleosome binding and helicase activity. An important paralog of this gene is SMARCA5.

UniProtKB/Swiss-Prot: SMCA1_HUMAN, P28370
Function: Energy-transducing component of NURF (nucleosome-remodeling factor) and CERF
(CECR2-containing-remodeling factor) complexes. Both complexes facilitate the perturbation of chromatin structure
in an ATP-dependent manner. Potentiates neurite outgrowth. May be involved in brain development by regulating
En-1 and En-2 expression. May be involved in the development of luteal cells

Gene Wiki entry for SMARCA1 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_000023.10  NT_011786.16  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMARCA1 gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 4   AP-2alpha isoform 2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMARCA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SMARCA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMARCA1


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

Entrez Gene cytogenetic band: Xq25   Ensembl cytogenetic band:  Xq25   HGNC cytogenetic band: Xq25

SMARCA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMARCA1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM128580:  view genomic region     (about GC identifiers)

Start:
128,580,478 bp from pter      End:
128,657,477 bp from pter
Size:
77,000 bases      Orientation:
minus 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: SMCA1_HUMAN, P28370 (See protein sequence)
Recommended Name: Probable global transcription activator SNF2L1  
Size: 1054 amino acids; 122605 Da
Subunit: Part of the nucleosome-remodeling factor (NURF) complex which consists of SMARCA1; BPTF; RBBP4 and RBBP7.
Part of the CECR2-containing-remodeling factor (CERF) complex which contains CECR2 and SMARCA1. Interacts with
PRLR
Subcellular location: Nucleus
Sequence caution: Sequence=AAA80560.1; Type=Erroneous initiation;
Secondary accessions: Q5JV41 Q5JV42
Alternative splicing: 2 isoforms:  P28370-1   P28370-2   (Inactive as an ATPase and a chromatin remodeler due to the presence of exon 13, but retains its ability to incorporate into the NURF complex. Predominant in non neuronal tissues)

Explore the universe of human proteins at neXtProt for SMARCA1: NX_P28370

Explore proteomics data for SMARCA1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P28370

  • 4/26 DME Specific Peptides for SMARCA1 (P28370) (see all 26)
     PPKRERK  TGTPLQN  HPYLFDG  DSDWNPQ 

    SMARCA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SMARCA1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001269803.1  NP_001269804.1  NP_003060.2  NP_620604.2  

    ENSEMBL proteins: 
     ENSP00000360164   ENSP00000360163   ENSP00000404275   ENSP00000360162  

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    Cloud-Clone Corp. Proteins for SMARCA1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IEA--
    GO:0005634nucleus IDA14609955
    GO:0016589NURF complex IDA--
    GO:0090537CERF complex IDA15640247

    SMARCA1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for SMARCA1


    (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 P28370

    ProtoNet protein and cluster: P28370

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


    UniProtKB/Swiss-Prot: SMCA1_HUMAN, P28370
    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


    SMARCA1 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: SMCA1_HUMAN, P28370
    Function: Energy-transducing component of NURF (nucleosome-remodeling factor) and CERF
    (CECR2-containing-remodeling factor) complexes. Both complexes facilitate the perturbation of chromatin structure
    in an ATP-dependent manner. Potentiates neurite outgrowth. May be involved in brain development by regulating
    En-1 and En-2 expression. May be involved in the development of luteal cells

         Genatlas biochemistry entry for SMARCA1:
    general transcriptional activator S cerevisiae SWI/SNF related protein,matrix associated,actin-dependent regulator
    of chromatin,subfamily A,member 1,component of the chromatin remodeling complex,Drosophila ISWI (initiator of
    SWI) homolog

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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding ----
    GO:0004386helicase activity IEA--
    GO:0005515protein binding IPI14609955
         
    SMARCA1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SMARCA1:
     Increased gamma-H2AX phosphory  Synthetic lethal with imatinib 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Smarca1):
     behavior/neurological  cardiovascular system  cellular  craniofacial  nervous system 
     normal 

    SMARCA1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SMARCA1 
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    SwitchGear 3'UTR luciferase reporter plasmidSMARCA1 3' UTR sequence
    Inhib. RNA
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    (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 SMARCA1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1PEDF Induced Signaling
    Glucocorticoid Receptor Signaling0.43
    2Development Ligand-dependent activation of the ESR1/AP-1 pathway
    Chromatin Remodeling0.30
    3BRCA1 Pathway
    BRCA1 Pathway
    4AMPK Enzyme Complex Pathway
    AMPK Enzyme Complex Pathway
    5Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SMARCA1
        AMPK Enzyme Complex Pathway
    BRCA1 Pathway
    Glucocorticoid Receptor Signaling
    Chromatin Remodeling

    1 Cell Signaling Technology (CST) Pathway for SMARCA1
        Chromatin Regulation / Acetylation



    SMARCA1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SMARCA1

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

    5/58 Interacting proteins for SMARCA1 (P283702, 3 ENSP000003601634) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313, ENSP000003502754I2D: score=1 STRING: ENSP00000350275
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    HIST1H3EP684313I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000733DNA strand renaturation IDA--
    GO:0006338chromatin remodeling IDA14609955
    GO:0006351transcription, DNA-dependent IMP14609955
    GO:0007420brain development IMP14609955
    GO:0030182neuron differentiation ISS--

    SMARCA1 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 SMARCA1 (SMCA1)

    Search CenterWatch for drugs/clinical trials and news about SMARCA1 / SMCA1

    (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 SMARCA1 gene (4 alternative transcripts): 
    NM_001282874.1  NM_001282875.1  NM_003069.4  NM_139035.2  

    Unigene Cluster for SMARCA1:

    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
    Hs.152292  [show with all ESTs]
    Unigene Representative Sequence: EU636009
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371123(uc011mul.1) ENST00000371122(uc004eun.4 uc011muk.1)
    ENST00000450039 ENST00000478420 ENST00000371121(uc004eup.4)
    miRNA
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    Additional mRNA sequence: 

    AK026426.1 BC051825.1 BC117447.1 BC143954.1 BC143955.1 EU636009.1 M89907.1 

    11 DOTS entries:

    DT.75139303  DT.449412  DT.100021913  DT.433556  DT.97810119  DT.100784073  DT.100021914  DT.121303858 
    DT.100034470  DT.95111863  DT.95269420 

    24/169 AceView cDNA sequences (see all 169):

    AI249799 BF589637 AW294211 AI869059 AU143772 BM543273 CF541038 BQ008187 
    AW297546 AA257064 AI800839 BM687947 AV656010 BX647934 BC051825 NM_139035 
    AL703305 AK123541 BM550740 BM676432 AW469379 AA056962 BM803247 BE552263 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SMARCA1    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                -                                                                           
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 24a · 24b · 24c ^ 25a · 25b · 25c · 25d
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:              -     -                     
    SP5:              -                           


    ECgene alternative splicing isoforms for SMARCA1

    (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

    SMARCA1 expression in normal human tissues (normalized intensities)      SMARCA1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTTCATCAA
    SMARCA1 Expression
    About this image


    SMARCA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Testicular Interstitial Cells Testis Interstitium
     
     Blood Brain Barrier (Nervous System)    fully expand to see all 2 entries
             Endothelial Cells Blood Brain Barrier
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Endothelial Cells Blood Brain Barrier
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Endothelial Cells Blood Brain Barrier

    See SMARCA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMARCA1

    SOURCE GeneReport for Unigene cluster: Hs.152292
        SABiosciences Expression via Pathway-Focused PCR Array including SMARCA1: 
              Polycomb & Trithorax Complexes in human mouse rat

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    In Situ
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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 SMARCA1 gene from 8/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smarca11 , 5 SWI/SNF related, matrix associated, actin dependent more1, 5 91.77(n)1
    96.45(a)1
      X (25.41 cM)5
    937611  NM_053123.41  NP_444353.31 
     478093685 
    chicken
    (Gallus gallus)
    Aves SMARCA11 SWI/SNF related, matrix associated, actin dependent more 81.44(n)
    91.24(a)
      422358  XM_420329.3  XP_420329.2 
    lizard
    (Anolis carolinensis)
    Reptilia SMARCA16
    SWI/SNF related, matrix associated, actin dependen...
    86(a)
    1 ↔ 1
    GL343202.1(3712625-3747268)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.127232 Transcribed sequence with strong similarity to protein more 78.37(n)    CK029415.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Iswi1 , 3 chromatin assembly/disassembly DNA
    dependent adenosinetriphosphatase3
    Imitation SWI1
    72(a)3
    65.36(n)1
    74.59(a)1
      49B103
    363901  NM_165930.11  NP_725203.11 
    worm
    (Caenorhabditis elegans)
    Secernentea isw-11 Protein ISW-1 63.07(n)
    65.93(a)
      175944  NM_066067.4  NP_498468.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ISW2(YOR304W)4
    ISW21
    ATP-dependent DNA translocase involved in chromatin more4
    Isw2p1
    57.34(n)1
    53.03(a)1
      15(884514-887876)4
    8544801, 4  NP_014948.11, 4 
    Alicante grape
    (Vitis vinifera)
    eudicotyledons Vvi.44832 Vitis vinifera transcribed sequence with strong similarity more 73.66(n)    CB346697.2 


    ENSEMBL Gene Tree for SMARCA1 (if available)
    TreeFam Gene Tree for SMARCA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SMARCA1 gene
    SMARCA52  CHD1L2  
    16 SIMAP similar genes for SMARCA1 using alignment to 4 protein entries:     SMCA1_HUMAN (see all proteins):
    SMARCA5    CHD8    HELLS    CHD1L    CHD9    CHD3
    CHD5    DKFZp434K213    DKFZp434P202    CHD4    CHD7    SMARCA2
    ATRX    DKFZp434J1672    SMARCA4    CHD2

    SMARCA1 for paralogs           About GeneDecksing



    (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

    10/1059 SNPs in SMARCA1 are shown (see all 1059)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1858453791,2
    --128535523(+) AGTGGA/TTGTGA 2 -- ds50010--------
    rs1887432191,2
    --128535718(+) CTCTTG/TGTGTG 2 -- ds50010--------
    rs1817471461,2
    --128536172(+) TCAAAG/TAAACA 2 -- ut310--------
    rs152611,2
    H--128536207(-) TTTGTG/ATTACT 2 -- ut31 ese37Minor allele frequency- A:0.06NA EA MN NS 770
    rs1863573811,2
    --128536449(+) TGAAAC/TGCACA 2 -- ut310--------
    rs1912684751,2
    --128536886(+) TATAGA/CCCAAC 2 -- int10--------
    rs1389859551,2
    --128536939(+) TTTTTA/GTGAAA 2 -- int10--------
    rs1827434661,2
    --128537065(+) AGTATA/GTATTT 2 -- int10--------
    rs1854456421,2
    --128537087(+) TATGAC/TAGGTT 2 -- int10--------
    rs1910265901,2
    --128537180(+) CTGATA/GACAAA 2 -- int10--------

    HapMap Linkage Disequilibrium report for SMARCA1 (128580478 - 128657477 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SMARCA1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv525860CNV Gain19592680
    nsv523064CNV Gain19592680


    Locus Specific Mutation Databases (LSDB): SMARCA1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300012    OMIM disorders: --

    7 diseases for SMARCA1:    About MalaCards
    rhabdoid cancer    alpha thalassemia    thalassemia    intellectual disability
    mental retardation    pancreatic cancer    pancreatitis

    1 disease from the University of Copenhagen DISEASES database for SMARCA1:
    Alpha thalassemia

    SMARCA1 for disorders           About GeneDecksing


    Export disorders for SMARCA1 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 SMARCA1 gene, integrated from 9 sources (see all 42):
    (articles sorted by number of sources associating them with SMARCA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of human NURF: a regulator of Engrailed gene expression. (PubMed id 14609955)1, 2, 3 Barak O....Shiekhattar R. (2003)
    2. Cloning of human and bovine homologs of SNF2/SWI2: a global activator of transcription in yeast S. cerevisiae. (PubMed id 1408766)1, 2, 3 Okabe I....Nussbaum R.L. (1992)
    3. The imitation switch protein SNF2L regulates steroidogenic acute regulatory protein expression during terminal differentiation of ovarian granulosa cells. (PubMed id 16740656)1, 2 Lazzaro M.A....Picketts D.J. (2006)
    4. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    5. CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L. (PubMed id 15640247)1, 2 Banting G.S.... Shiekhattar R. (2005)
    6. A tissue-specific, naturally occurring human SNF2L variant inactivates chromatin remodeling. (PubMed id 15310751)1, 2 Barak O.... Shiekhattar R. (2004)
    7. 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)
    8. Identification of the phosphotyrosine proteome from thrombin activated platelets. (PubMed id 12112843)1, 2 Maguire P.B....Fitzgerald D.J. (2002)
    9. [Characterization of genomic structure and mutation analysis of SMARCA1 gene in a Smith-Fineman-Myers syndrome family] (PubMed id 15473299)1, 9 Liu Q.J....Guo Y.S. (2004)
    10. Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26. (PubMed id 18302774)1, 9 Lazzaro M.A....Picketts D.J. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6594 HGNC: 11097 AceView: SMARCA1 Ensembl:ENSG00000102038 euGenes: HUgn6594
    ECgene: SMARCA1 H-InvDB: SMARCA1

    (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 SMARCA1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SMARCA1 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 SMARCA1 gene:
    Search GeneIP for patents involving SMARCA1

    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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