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SMARCAD1 Gene

protein-coding   GIFtS: 59
GCID: GC04P095128

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

  See SMARCAD1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SWI/SNF-Related, Matrix-Associated Actin-Dependent Regulator Of
Chromatin, Subfamily A, Containing DEAD/H Box 11 2
     KIAA11223 5
ATP-Dependent Helicase 12 3     SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin
Subfamily A Containing DEAD/H Box 12
ADERM2 5     EC 3.6.4.123
ETL12 5     hHEL13
HEL12 5     EC 3.6.18

External Ids:    HGNC: 183981   Entrez Gene: 569162   Ensembl: ENSG000001631047   OMIM: 6127615   UniProtKB: Q9H4L73   

Export aliases for SMARCAD1 gene to outside databases

Previous GC identifers: GC04P095521 GC04P095587 GC04P095486 GC04P095347 GC04P090866


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SMARCAD1 Gene:
This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in
the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication
by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia.
Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. (provided
by RefSeq, Dec 2011)

GeneCards Summary for SMARCAD1 Gene:
SMARCAD1 (SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1) is a protein-coding gene. Diseases associated with SMARCAD1 include adermatoglyphia. GO annotations related to this gene include helicase activity and nucleic acid binding.

UniProtKB/Swiss-Prot: SMRCD_HUMAN, Q9H4L7
Function: DNA helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity and is both required
for DNA repair and heterochromatin organization. Promotes DNA end resection of double-strand breaks (DSBs)
following DNA damage: probably acts by weakening histone DNA interactions in nucleosomes flanking DSBs. Required
for the restoration of heterochromatin organization after replication. Acts at replication sites to facilitate
the maintenance of heterochromatin by directing H3 and H4 histones deacetylation, H3 'Lys-9' trimethylation
(H3K9me3) and restoration of silencing

Gene Wiki entry for SMARCAD1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SMARCAD1 gene promoter:
         Sox5   ARP-1   Sox9   IRF-1   c-Ets-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMARCAD1 promoter sequence
   Search Chromatin IP Primers for SMARCAD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SMARCAD1


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

Entrez Gene cytogenetic band: 4q22-q23   Ensembl cytogenetic band:  4q22.3   HGNC cytogenetic band: 4q22-q23

SMARCAD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMARCAD1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P095128:  view genomic region     (about GC identifiers)

Start:
95,128,759 bp from pter      End:
95,212,443 bp from pter
Size:
83,685 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SMRCD_HUMAN, Q9H4L7 (See protein sequence)
Recommended Name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing
DEAD/H box 1  
Size: 1026 amino acids; 117402 Da
Subunit: Binds to DNA preferentially in the vicinity of transcriptional start sites. Interacts with MSH2 and
TRIM28. Part of a complex composed of TRIM28, HDAC1, HDAC2 and EHMT2. Interacts with PCNA
Sequence caution: Sequence=AAH17953.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAA86436.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAB14759.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B7Z799 Q05D56 Q96SX1 Q9H017 Q9H860 Q9NPU9 Q9ULU7
Alternative splicing: 3 isoforms:  Q9H4L7-1   Q9H4L7-2   Q9H4L7-3   (Skin-specific)

Explore the universe of human proteins at neXtProt for SMARCAD1: NX_Q9H4L7

Explore proteomics data for SMARCAD1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys261
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for SMARCAD1 (Q9H4L7) (see all 5)
     NGILADE  AGGLGINL  MGLGKTIQ  DEMGLGKT 


    See SMARCAD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001121901.1  NP_001121902.1  NP_001241878.1  NP_064544.2  

    ENSEMBL proteins: 
     ENSP00000351947   ENSP00000415576   ENSP00000424624   ENSP00000346217   ENSP00000378413  
     ENSP00000423286  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR000330 SNF2_N
     IPR003892 CUE
     IPR027417 P-loop_NTPase
     IPR014001 Helicase_ATP-bd
     IPR001650 Helicase_C

    Graphical View of Domain Structure for InterPro Entry Q9H4L7

    ProtoNet protein and cluster: Q9H4L7

    2 Blocks protein domains:
    IPB000330 SNF2 related domain
    IPB003892 Ubiquitin system component Cue


    UniProtKB/Swiss-Prot: SMRCD_HUMAN, Q9H4L7
    Similarity: Belongs to the SNF2/RAD54 helicase family
    Similarity: Contains 2 CUE domains
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain


    Find genes that share domains with SMARCAD1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SMRCD_HUMAN, Q9H4L7
    Function: DNA helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity and is both required
    for DNA repair and heterochromatin organization. Promotes DNA end resection of double-strand breaks (DSBs)
    following DNA damage: probably acts by weakening histone DNA interactions in nucleosomes flanking DSBs. Required
    for the restoration of heterochromatin organization after replication. Acts at replication sites to facilitate
    the maintenance of heterochromatin by directing H3 and H4 histones deacetylation, H3 'Lys-9' trimethylation
    (H3K9me3) and restoration of silencing
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.121

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding NAS11031099
    GO:0003677DNA binding IDA18675275
    GO:0004386helicase activity IEA--
    GO:0005515protein binding IPI18675275
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with SMARCAD1           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Smarcad1):
     cardiovascular system  digestive/alimentary  growth/size/body  immune system  mortality/aging 
     normal  reproductive system  skeleton 

    Find genes that share phenotypes with SMARCAD1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Smarcad1tm1Lex for SMARCAD1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMARCAD1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMARCAD1

    miRNA
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    miRTarBase miRNAs that target SMARCAD1:
    hsa-mir-196a-5p (MIRT026072), hsa-mir-320a (MIRT044732), hsa-let-7d-5p (MIRT032177), hsa-let-7a-5p (MIRT052382)

    Block miRNA regulation of human, mouse, rat SMARCAD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SMARCAD1 (see all 70):
    hsa-miR-607 hsa-miR-300 hsa-miR-631 hsa-miR-4272 hsa-miR-374a hsa-miR-200b hsa-miR-1206 hsa-miR-3688-3p
    SwitchGear 3'UTR luciferase reporter plasmidSMARCAD1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SMARCAD1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SMRCD_HUMAN, Q9H4L7: Nucleus. Chromosome. Note=Colocalizes with PCNA at replication forks during S phase.
    Recruited to double-strand breaks (DSBs) sites of DNA damage
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000792heterochromatin ISS--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0016363nuclear matrix NAS11031099
    GO:0035861site of double-strand break IDA--

    Find genes that share ontologies with SMARCAD1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SMARCAD1 About    
    See pathways by source

    SuperPathContained pathways About
    1AMPK Enzyme Complex Pathway
    Chromatin Remodeling0.00
    AMPK Enzyme Complex Pathway
    2PEDF Induced Signaling
    Glucocorticoid Receptor Signaling0.43
    3Transcriptional Regulatory Network in Embryonic Stem Cell
    Transcriptional Regulatory Network in Embryonic Stem Cell
    4Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation
    5BRCA1 Pathway
    BRCA1 Pathway


    Find genes that share SuperPaths with SMARCAD1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SMARCAD1
        AMPK Enzyme Complex Pathway
    Transcriptional Regulatory Network in Embryonic Stem Cell
    BRCA1 Pathway
    Glucocorticoid Receptor Signaling
    Chromatin Remodeling

    1 Cell Signaling Technology (CST) Pathway for SMARCAD1
        Chromatin Regulation / Acetylation


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SMARCAD1
    Interactions:

        Search GeneGlobe Interaction Network for SMARCAD1

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

    Selected Interacting proteins for SMARCAD1 (Q9H4L72, 3 ENSP000003519474) via UniProtKB, MINT, STRING, and/or I2D (see all 856)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIM28Q132632, 3, ENSP000002530244MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000253024
    ACTL6AO960192, ENSP000003975524MINT-7945693 MINT-7947479 STRING: ENSP00000397552
    BAZ1AQ9NRL22, ENSP000003534584MINT-7945693 MINT-7947479 STRING: ENSP00000353458
    DDX3XO005712, ENSP000003828404MINT-7945693 MINT-7947479 STRING: ENSP00000382840
    GTF3C2Q8WUA42, ENSP000002647204MINT-7945693 MINT-7947479 STRING: ENSP00000264720
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000018regulation of DNA recombination IEP11031099
    GO:0000729DNA double-strand break processing IMP--
    GO:0006338chromatin remodeling NAS--
    GO:0009117nucleotide metabolic process NAS11031099
    GO:0016568chromatin modification NAS11031099

    Find genes that share ontologies with SMARCAD1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SMARCAD1 (SMRCD)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SMARCAD1 gene (4 alternative transcripts): 
    NM_001128429.2  NM_001128430.1  NM_001254949.1  NM_020159.4  

    Unigene Cluster for SMARCAD1:

    SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
    Hs.410406  [show with all ESTs]
    Unigene Representative Sequence: NR_045644
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359052(uc003htb.4 uc010ila.3) ENST00000457823 ENST00000510105
    ENST00000354268(uc003htc.4 uc003htd.4 uc011cdw.2) ENST00000394961
    ENST00000509418 ENST00000506089 ENST00000514232
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    hsa-miR-607 hsa-miR-300 hsa-miR-631 hsa-miR-4272 hsa-miR-374a hsa-miR-200b hsa-miR-1206 hsa-miR-3688-3p
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    Additional mRNA sequence: 

    AB032948.2 AK023990.1 AK025302.1 AK027490.1 AK301668.1 AL359929.1 AL512768.1 AY008271.1 
    BC017953.1 BC041800.1 BC045534.1 NR_045644.1 

    8 DOTS entries:

    DT.101961895  DT.100774225  DT.214281  DT.75137778  DT.207604  DT.121244807  DT.91680846  DT.91743130 

    Selected AceView cDNA sequences (see all 148):

    AU159932 AB032948 AI425071 AL359929 CA312706 AW166783 AK023990 F03435 
    AI807204 AL512768 AA719813 AA449150 BQ574749 BM992204 AL701475 N39412 
    BU569958 BM765114 AI655865 BE672006 AW072616 AW140062 AW662670 AI632253 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SMARCAD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTTTGTTT
    SMARCAD1 Expression
    About this image


    SMARCAD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Head Mesenchyme (Muscoskeletal System)
             Head Mesenchyme
    SMARCAD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMARCAD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.410406

    UniProtKB/Swiss-Prot: SMRCD_HUMAN, Q9H4L7
    Tissue specificity: Isoform 1 is expressed ubiquitously. Isoform 3 is expressed mainly in skin, fibroblasts,
    keratinocytes and esophagus

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCAD1

    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SMARCAD1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smarcad11 , 5 SWI/SNF-related, matrix-associated actin-dependent more1, 5 88.73(n)1
    92.94(a)1
      6 (30.11 cM)5
    139901  NM_007958.11  NP_031984.11 
     650426675 
    chicken
    (Gallus gallus)
    Aves SMARCAD11 SWI/SNF-related, matrix-associated actin-dependent more 71.41(n)
    69.76(a)
      422522  XM_420485.4  XP_420485.4 
    lizard
    (Anolis carolinensis)
    Reptilia SMARCAD16
    SWI/SNF-related, matrix-associated actin-dependent...
    70(a)
    1 ↔ 1
    5(48806553-48848051)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.335542 Xenopus laevis transcribed sequence with moderate similarity more 80.68(n)    48029991 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi25c012 Transcribed sequence with weak similarity to protein more 74.06(n)    57064958 
    fruit fly
    (Drosophila melanogaster)
    Insecta Etl11 Etl1 homologue 50.98(n)
    43.73(a)
      34311  NM_135476.4  NP_609320.2 
    worm
    (Caenorhabditis elegans)
    Secernentea M03C11.86
    Protein M03C11.8 (M03C11.8) mRNA, complete cds
    33(a)
    1 ↔ 1
    III(10428334-10435983) WBGene00010845
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FUN30(YAL019W)4 Conserved member of the Snf2p family with ATP-dependent more   --   1(114919-118314) 851214  NP_009383.1 


    ENSEMBL Gene Tree for SMARCAD1 (if available)
    TreeFam Gene Tree for SMARCAD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SMARCAD1 gene
    2 SIMAP similar genes for SMARCAD1 using alignment to 3 protein entries:     SMRCD_HUMAN (see all proteins):
    HELLS    SMARCA5

    Find genes that share paralogs with SMARCAD1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SMARCAD1 (see all 1925)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1382121141,2
    C--90865189(+) AAAAA-/ATGAGA 4 -- us2k10--------
    rs2015838681,2
    C--90898319(+) TGAAAG/TTTTGT 4 -- int10--------
    rs2016358361,2
    --90903655(+) AAAAA-/AACTT 
            
    AACTT
    4 -- int10--------
    rs1413195951,2
    C--90908266(+) CATTC-/TAGTTT 4 -- int10--------
    rs614643691,2
    C--90921804(+) AGAAA-/GAAAGAAA 5 -- cds1 int10--------
    rs2005563431,2
    C--90935613(+) TCATA-/AGCCAT
    AATTTACC
    TGTTC
    5 -- int10--------
    rs46933791,2
    C--90940994(+) tttttT/Gttttt 5 -- int11Minor allele frequency- G:0.00CSA 1
    rs100119361,2
    C,A--90940997(+) TTGTTG/TTTTTT 5 -- int1 trp30--------
    rs676314691,2
    C--90943998(+) ATATTTATC/-  
            
    TATAT
    5 -- int11Minor allele frequency- -:0.50NA 2
    rs76546211,2
    C,F,H--94929983(+) aacttT/Cgtatt 1 -- us2k18Minor allele frequency- C:0.10NS EA NA CSA WA 660

    HapMap Linkage Disequilibrium report for SMARCAD1 (95128759 - 95212443 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SMARCAD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv507182CNV Insertion20534489
    nsv879618CNV Loss21882294
    nsv292335CNV Loss16902084
    nsv819645CNV Gain19587683

    Human Gene Mutation Database (HGMD): SMARCAD1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SMARCAD1
    DNA2.0 Custom Variant and Variant Library Synthesis for SMARCAD1

    (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.)
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    OMIM gene information: 612761   
    OMIM disorders: 136000  
    UniProtKB/Swiss-Prot: SMRCD_HUMAN, Q9H4L7
  • Adermatoglyphia (ADERM) [MIM:136000]: An autosomal dominant condition characterized by the lack of
    epidermal ridges on the palms and soles, which results in the absence of fingerprints, and is associated with a
    reduced number of sweat gland openings and reduced sweating of palms and soles. Note=The disease is caused by
    mutations affecting the gene represented in this entry. A splice site mutation causing aberrant splicing of
    isoform 3 is likely to exert a loss-of-function effect and is associated with ADERM

  • 1 disease for SMARCAD1:    
    About MalaCards
    adermatoglyphia


    Find genes that share disorders with SMARCAD1           About GenesLikeMe

    Genetic Association Database (GAD): SMARCAD1
    Human Genome Epidemiology (HuGE) Navigator: SMARCAD1 (1 document)

    Export disorders for SMARCAD1 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)
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    PubMed articles for SMARCAD1 gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with SMARCAD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SMARCAD1, a novel human helicase family-defining member associated with genetic instability: cloning, expression, and mapping to 4q22- q23, a band rich in breakpoints and deletion mutants involved in several human diseases. (PubMed id 11031099)1, 2, 3, 9 Adra C.N.... Drews R. (Genomics 2000)
    2. The yeast Fun30 and human SMARCAD1 chromatin remodellers promote DNA end resection. (PubMed id 22960744)1, 2 Costelloe T.... Llorente B. (Nature 2012)
    3. A mutation in a skin-specific isoform of SMARCAD1 causes autosomal- dominant adermatoglyphia. (PubMed id 21820097)1, 2 Nousbeck J.... Sprecher E. (Am. J. Hum. Genet. 2011)
    4. Maintenance of silent chromatin through replication requires SWI/SNF- like chromatin remodeler SMARCAD1. (PubMed id 21549307)1, 2 Rowbotham S.P.... Mermoud J.E. (Mol. Cell 2011)
    5. A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. (PubMed id 20889312)1, 4 Wang K.S....Aragam N. (Schizophr. Res. 2010)
    6. The novel protein complex with SMARCAD1/KIAA1122 binds to the vicinity of TSS. (PubMed id 18675275)1, 2 Okazaki N.... Koga H. (J. Mol. Biol. 2008)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. 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. (Genome Res. 2004)
    10. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2 Hirosawa M.... Ohara O. (DNA Res. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 56916 HGNC: 18398 AceView: SMARCAD1 Ensembl:ENSG00000163104 euGenes: HUgn56916
    ECgene: SMARCAD1 H-InvDB: SMARCAD1

    (According to HUGE)
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    HUGE: KIAA1122

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SMARCAD1 Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/136

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SMARCAD1 gene:
    Search GeneIP for patents involving SMARCAD1

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



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