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

SMARCD1 Gene

protein-coding   GIFtS: 59
GCID: GC12P050478

SWI/SNF related, matrix associated, actin dependent regulator...

 Explore 6 diseases affiliated with
SMARCD1 via our new
 Human Malady Compendium 
Biological research products
for SMARCD1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin,
Subfamily D, Member 11 2
     Chromatin Remodeling Complex BAF60A Subunit2
BAF60A1 2 3 5     Mammalian Chromatin Remodeling Complex BRG1-Associated Factor 60A2
CRACD11 2     SWI/SNF Complex 60 KDa Subunit A2
Rsc6p1 2     SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin
Subfamily D Member 12
60 KDa BRG-1/Brm-Associated Factor Subunit A2 3     Swp73-Like Protein2
BRG1-Associated Factor 60A2 3     SWI/SNF Complex 60 KDa Subunit3

External Ids:    HGNC: 111061   Entrez Gene: 66022   Ensembl: ENSG000000661177   OMIM: 6017355   UniProtKB: Q96GM53   

Export aliases for SMARCD1 gene to outside databases

Previous GC identifers: GC12P050773 GC12P050535 GC12P050195 GC12P048766 GC12P048767 GC12P048768 GC12P047511


(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 SMARCD1:
The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and
ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure
around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and
has sequence similarity to the yeast Swp73 protein. Two transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: SMRD1_HUMAN, Q96GM5
Function: Involved in chromatin remodeling. Belongs to the neural progenitors-specific chromatin remodeling complex
(npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a
switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle
and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to
post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors
exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are
exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific
complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural
stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite
growth (By similarity). Has a strong influence on the Vitamin D-mediated transcriptional activity from an enhancer
Vitamin D receptor element (VDRE). May be a link between mammalian SWI-SNF-like chromatin remodeling complexes and the
vitamin D receptor (VDR) heterodimer. Mediates critical interactions between nuclear receptors and the BRG1/SMARCA4
chromatin-remodeling complex for transactivation. Also involved in vitamin D-coupled transcription regulation via its
association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is
required for the ligand-bound VDR-mediated transrepression of the CYP27B1 gene

Gene Wiki entry for SMARCD1


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMARCD1 gene promoter:
         E2F-4   E2F-3a   STAT1   E2F-5   E2F-2   YY1   E2F-1   E2F   HSF2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMARCD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SMARCD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMARCD1


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

Entrez Gene cytogenetic band: 12q13-q14   Ensembl cytogenetic band:  12q13.12   HGNC cytogenetic band: 12q13-q14

SMARCD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMARCD1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P050478:  view genomic region     (about GC identifiers)

Start:
50,478,755 bp from pter      End:
50,494,495 bp from pter
Size:
15,741 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SMRD1_HUMAN, Q96GM5 (See protein sequence)
Recommended Name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1  
Size: 515 amino acids; 58233 Da
Subunit: Component of the BAF complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2,
SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1,
and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains
DPF3. Specifically interacts with the VDR heterodimer complex. Component of the WINAC complex, at least composed of
SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCE1, ACTL6A, BAZ1B/WSTF, ARID1A, SUPT16H, CHAF1A and TOP2B.
Interacts with ESR1, NR3C1, NR1H4, PGR, SMARCA4, SMARCC1 and SMARCC2. Component of neural progenitors-specific
chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A,
SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57,
SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF
complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B,
SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C,
ACTL6B/BAF53B and actin (By similarity)
Subcellular location: Nucleus (Probable)
Sequence caution: Sequence=AAC50695.1; Type=Frameshift; Positions=30; Sequence=AAD23390.1; Type=Erroneous initiation;
Sequence=AAH09368.3; Type=Erroneous initiation;
Secondary accessions: A6NN27 Q92924 Q9Y635
Alternative splicing: 2 isoforms:  Q96GM5-1   Q96GM5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SMARCD1: NX_Q96GM5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96GM5

  • SMARCD1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_003067.3  NP_620710.2  

    ENSEMBL proteins: 
     ENSP00000378414   ENSP00000370924   ENSP00000447386   ENSP00000448030   ENSP00000449825  
     ENSP00000448627   ENSP00000447909  

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    Uscn Proteins for SMARCD1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016514SWI/SNF complex IDA8804307
    GO:0016585chromatin remodeling complex ----
    GO:0071564npBAF complex ISS--
    GO:0071565nBAF complex ISS--


    SMARCD1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SMARCD1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR003121 SWIB_MDM2_domain
     IPR019835 SWIB_domain

    Graphical View of Domain Structure for InterPro Entry Q96GM5

    ProtoNet protein and cluster: Q96GM5

    1 Blocks protein family: IPB003121 SWIB complex

    UniProtKB/Swiss-Prot: SMRD1_HUMAN, Q96GM5
    Similarity: Belongs to the SMARCD family
    Similarity: Contains 1 SWIB domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: SMRD1_HUMAN, Q96GM5
    Function: Involved in chromatin remodeling. Belongs to the neural progenitors-specific chromatin remodeling complex
    (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a
    switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle
    and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to
    post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors
    exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are
    exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific
    complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural
    stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite
    growth (By similarity). Has a strong influence on the Vitamin D-mediated transcriptional activity from an enhancer
    Vitamin D receptor element (VDRE). May be a link between mammalian SWI-SNF-like chromatin remodeling complexes and the
    vitamin D receptor (VDR) heterodimer. Mediates critical interactions between nuclear receptors and the BRG1/SMARCA4
    chromatin-remodeling complex for transactivation. Also involved in vitamin D-coupled transcription regulation via its
    association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is
    required for the ligand-bound VDR-mediated transrepression of the CYP27B1 gene

         Genatlas biochemistry entry for SMARCD1:
    general transcriptional activator S cerevisiae SWI/SNF related protein,matrix associated,actin-dependent regulator of
    chromatin,subfamily D,member 1,component of the chromatin remodeling complex,ubiquitously expressed

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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity NAS8804307
    GO:0005515protein binding IPI18303029
    GO:0032947protein complex scaffold IDA12917342


    SMARCD1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SMARCD1:
     Increased cell number in S 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Development_Ligand-dependent activation of the ESR1/AP-1 pathway
    Development_Ligand-dependent activation of the ESR1/AP-1 pathway1.00
    Transcription Ligand-dependent activation of the ESR1/SP pathway0.37
    Development Ligand-dependent activation of the ESR1/AP-1 pathway1.00
    Chromatin Remodeling0.30
    Transcription_Ligand-dependent activation of the ESR1/SP pathway0.37
    2BRCA1 Pathway
    BRCA1 Pathway1.00
    3AMPK Enzyme Complex Pathway
    AMPK Enzyme Complex Pathway1.00
    4Glucocorticoid receptor regulatory network
    Glucocorticoid receptor regulatory network1.00
    5PEDF Induced Signaling
    Glucocorticoid Receptor Signaling0.27

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for SMARCD1
        Development Ligand-dependent activation of the ESR1/AP-1 pathway
    Transcription Ligand-dependent activation of the ESR1/SP pathway

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SMARCD1
        AMPK Enzyme Complex Pathway
    BRCA1 Pathway
    Glucocorticoid Receptor Signaling
    Chromatin Remodeling

    2 GeneGo (Thomson Reuters) Pathways for SMARCD1
        Transcription Ligand-dependent activation of the ESR1/SP pathway
    Development Ligand-dependent activation of the ESR1/AP-1 pathway

    1 BioSystems Pathway for SMARCD1 
        Glucocorticoid receptor regulatory network



    SMARCD1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SMARCD1

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

    5/863 Interacting proteins for SMARCD1 (Q96GM51, 2, 3 ENSP000003784144) via UniProtKB, MINT, STRING, and/or I2D (see all 863)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMARCB1Q128242, 3, ENSP000002631214MINT-7945693 MINT-7947479 I2D: score=7 STRING: ENSP00000263121
    ARID1AO144972, 3, ENSP000003204854MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000320485
    SMARCA4P515321, 3, ENSP000003507204EBI-1965109,EBI-302489 I2D: score=9 STRING: ENSP00000350720
    KRT15P190122, 3, ENSP000002540434MINT-66111 I2D: score=5 STRING: ENSP00000254043
    LDOC1O957512, 3, ENSP000003595574MINT-67863 I2D: score=5 STRING: ENSP00000359557
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006337nucleosome disassembly IDA8895581
    GO:0006338chromatin remodeling IMP12917342
    GO:0006357regulation of transcription from RNA polymerase II promoter NAS8804307
    GO:0007399nervous system development IEA--
    GO:0048096chromatin-mediated maintenance of transcription IMP12917342


    SMARCD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
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    Search CenterWatch for drugs/clinical trials and news about SMARCD1 / SMRD1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SMARCD1 gene (2 alternative transcripts): 
    NM_003076.4  NM_139071.2  

    Unigene Cluster for SMARCD1:

    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
    Hs.79335  [show with all ESTs]
    Unigene Representative Sequence: NM_003076
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000394963(uc001rvx.4 uc001rvy.4 uc009zlp.3) ENST00000381513
    ENST00000551966 ENST00000550477 ENST00000547247(uc010smo.1) ENST00000547637
    ENST00000551497 ENST00000548573 ENST00000549274 ENST00000550280 ENST00000551352
    ENST00000549526

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    Additional cDNA sequence: 

    AF109733.1 AK130517.1 AK292700.1 AK293932.1 BC000063.2 BC009368.2 U66617.1 

    15 DOTS entries:

    DT.86855136  DT.100685679  DT.100794327  DT.95310816  DT.100037423  DT.95147184  DT.121127795  DT.121127798 
    DT.100794328  DT.100794329  DT.100794331  DT.121127794  DT.95310765  DT.99941756  DT.121127817 

    24/273 AceView cDNA sequences (see all 273):

    BQ218828 BU509684 BQ949766 BQ957208 BE740488 BX280691 BQ933801 BU931457 
    BM740007 CF272236 AA580866 BQ225880 AI287806 BC000063 CA397586 BQ010066 
    BC009368 BQ929257 BU160528 AW237284 BQ061434 CA441703 NM_003076 BQ073233 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for SMARCD1 (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b · 14c · 14d
    SP1:              -                                         -                                   -           -                                 
    SP2:              -                                         -                                   -     -     -                                 
    SP3:              -                             -     -     -                                                                                 
    SP4:              -                             -                                                                                             
    SP5:                                                                                                                                          


    ECgene alternative splicing isoforms for SMARCD1

    (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

    SMARCD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GACCAAACTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SMARCD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMARCD1

    SOURCE GeneReport for Unigene cluster: Hs.79335

    UniProtKB/Swiss-Prot: SMRD1_HUMAN, Q96GM5
    Tissue specificity: Expressed in all tissues tested, including brain, heart, kidney, liver, lung, muscle, pancreas and
    placenta

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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 SMARCD1 gene from 9/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smarcd11 , 5 SWI/SNF related, matrix associated, actin dependent more1, 5 93.2(n)1
    99.42(a)1
      15 (56.13 cM)5
    837971  NM_031842.21  NP_114030.21 
     997022875 
    chicken
    (Gallus gallus)
    Aves SMARCD11 SWI/SNF related, matrix associated, actin dependent more 82.29(n)
    95.9(a)
      426882  XM_424488.3  XP_424488.3 
    lizard
    (Anolis carolinensis)
    Reptilia SMARCD16
    --
    98(a)
    1 ↔ 1
    2(91665244-91675936)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.54922 Xenopus laevis, similar to SWI/SNF related, clone IMAGE5542448, more 80.2(n)    BC045009.1 
    zebrafish
    (Danio rerio)
    Actinopterygii smarcd12 SWI/SNF related, matrix associated, actin dependent more 77.95(n)   323115  BC049347.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Bap603 general RNA polymerase II transcription
    factor
    78(a)   11E1   --
    worm
    (Caenorhabditis elegans)
    Secernentea C18E3.23   -- 53(a)
    (best of 2)
      I(4210999-4212514)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CHC11 SWI/SNF complex component SNF12-like protein 46.84(n)
    36.53(a)
      831267  NM_121421.3  NP_196921.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g03821001 hypothetical protein 50.42(n)
    39.62(a)
      4335638  NM_001059140.1  NP_001052605.1 


    ENSEMBL Gene Tree for SMARCD1 (if available)
    TreeFam Gene Tree for SMARCD1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SMARCD1 gene
    SMARCD32  SMARCD22  
    2 SIMAP similar genes for SMARCD1 using alignment to 7 protein entries:     SMRD1_HUMAN (see all proteins):
    SMARCD3    SMARCD2

    SMARCD1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/278 NCBI SNPs in SMARCD1 are shown (see all 278    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1840754111,2
    --50477972(+) CAGGCA/GCCCGC 2 -- us2k10--------
    rs2003597121,2
    --50478147(+) TAATA-/TTTAAA 2 -- us2k10--------
    rs2011287321,2
    --50478148(+) ATATT-/ATAAAA 2 -- us2k10--------
    rs26405331,2
    C,--50478149(+) ATATTA/TAAAAA 2 -- us2k1 tfbs35Minor allele frequency- T:0.23NA WA EA 362
    rs1471897701,2
    --50478341(+) TACTTC/GGTAGG 2 -- us2k10--------
    rs108759961,2
    C,F,--50478352(+) CTGAGG/TTGGGA 2 -- us2k17Minor allele frequency- T:0.29NA WA CSA 14
    rs48985461,2
    C,F,H,--50478449(+) CATCTC/AAAAAA 2 -- us2k1 tfbs322Minor allele frequency- A:0.26NS EA NA WA CSA 2341
    rs765477241,2
    F,--50478862(+) GTCCCC/TCTTTC 2 -- us2k11Minor allele frequency- T:0.04WA 118
    rs740900491,2
    C,--50479498(+) TTACAC/TACCTG 2 -- int11Minor allele frequency- T:0.50WA 2
    rs780735021,2
    F,--50479575(+) TACCTG/ATATGA 2 -- int13Minor allele frequency- A:0.08CSA WA 122

    HapMap Linkage Disequilibrium report for SMARCD1 (50478755 - 50494495 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SMARCD1: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SMARCD1 for disorders           About GeneDecksing

    OMIM gene information: 601735    OMIM disorders: --

    6 diseases for SMARCD1:    About MalaCards
    triple-a syndrome    fanconi's anemia    williams syndrome    anemia
    leukemia    neuronitis

    1 disease from the University of Copenhagen DISEASES database for SMARCD1:
    triple-A syndrome

    Export disorders for SMARCD1 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 SMARCD1 gene, integrated from 9 sources (see all 50):
    (articles sorted by number of sources associating them with SMARCD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. BAF60a mediates critical interactions between nuclear receptors and the BRG1 chromatin-remodeling complex for transactivation. (PubMed id 12917342)1, 2, 3, 9 Hsiao P.W.... Archer T.K. (2003)
    2. Diversity and specialization of mammalian SWI/SNF complexes. (PubMed id 8804307)1, 2, 3 Wang W.... Crabtree G.R. (1996)
    3. 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)
    4. Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome. (PubMed id 9693044)1, 3 Ring H.Z....Francke U. (1998)
    5. Purification and biochemical heterogeneity of the mammalian SWI-SNF complex. (PubMed id 8895581)1, 2 Wang W....Crabtree G.R. (1996)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    7. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. SRG3/mBAF155 stabilizes the SWI/SNF-like BAF complex b y blocking CHFR mediated ubiquitination and degradation of its major components. (PubMed id 22285184)1 Jung I....Seong R.H. (2012)
    10. Double plant homeodomain (PHD) finger proteins DPF3a a nd -3b are required as transcriptional co-activators in SWI/SNF complex-dependen t activation of NF-kB RelA/p50 heterodimer. (PubMed id 22334708)1 Ishizaka A....Iba H. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 6602 HGNC: 11106 AceView: SMARCD1 Ensembl:ENSG00000066117 euGenes: HUgn6602
    ECgene: SMARCD1 H-InvDB: SMARCD1

    (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 SMARCD1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SMARCD1 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 SMARCD1 gene:
    Search GeneIP for patents involving SMARCD1

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



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