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FLASH GENE
Symbol SMARCAD1 contributors: mct - updated : 20-02-2016
HGNC name SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
HGNC id 18398
Corresponding disease
ADERM adermatoglyphia
Location 4q22.3      Physical location : 95.128.758 - 95.212.441
Synonym name
  • mouse Etl1 homolog
  • ATP-dependent helicase 1
  • Synonym symbol(s) KIAA1122, DKFZP762K2015, HEL1, ETL1, ADERM
    EC.number 3.6.4.12
    DNA
    TYPE functioning gene
    STRUCTURE 83.69 kb     24 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    TIGD2 4q21.3 tigger transposable element derived 2 LOC285513 4q22.1 hypothetical protein LOC285513 SNCA 4q21-q22 synuclein, alpha (non A4 component of amyloid precursor) MMRN 4q22 multimerin KIAA1680 4q22 multimerin TMSL3 4q22.1 thymosin-like 3 LOC389212 4 LOC389212 LOC133083 4q22.2 similar to mitochondrial matrix processing protease, alpha subunit GRID2 4q22 glutamate receptor, ionotropic, delta 2 ATOH1 4q22 atonal homolog 1 (Drosophila) SMARCAD1 4q22-q23 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 PGDS 4q22.1-q23 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 LIM 4q22 LIM protein (similar to rat protein kinase C-binding enigma) LOC389213 4 similar to hypothetical protein FLJ33610 BMPR1B 4q23-q24 bone morphogenetic protein receptor, type IB UNC5C 4q21-q23 unc-5 homolog C (C. elegans) PDHA2 4q22-q23 pyruvate dehydrogenase (lipoamide) alpha 2 COX7A3 14 cytochrome c oxidase subunit VIIa polypeptide 3 (liver) MGC46496 4q22.3-q23 hypothetical protein MGC46496 RAP1GDS1 4q21 RAP1, GTP-GDP dissociation stimulator 1 TM4SF9 4q22.3 transmembrane 4 superfamily member 9 LOC132556 4q23 similar to Transcription factor BTF3 homolog 3 EIF4E 4q21-q25 eukaryotic translation initiation factor 4E METAP1 4q22.3 methionyl aminopeptidase 1 ADH5 4q21-q23 alcohol dehydrogenase 5 (class III), chi polypeptide ADH4 4q21-q24 alcohol dehydrogenase 4 (class II), pi polypeptide LOC359806 4q24 PCNA pseudogene p1PCNA ADH6 4q21-q25 alcohol dehydrogenase 6 (class V)
    regionally located in a region rich in breakpoints and deletion mutants in various tumor
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 5114 - 1028 - 2000 11031099
    variant 1
    24 - 5108 - 1026 - 2000 11031099
    variant 3
    24 - 5036 - 1028 - 2000 11031099
    variant 2
    16 - 3950 - 596 - 2000 11031099
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Skin/Tegumentskin     Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text kidney, liver, spleen, thymus
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two RNP1 nucleic acid interaction domain, a SNF2 related
  • two P loops (ATP/GTP binding)
  • a bipartite nuclear targeting sequence
  • a nuclear localization signal (NLS)
  • two DEAD/H box (Asp-Glu-Ala-Asp/His) ATPs dependent helicase signature
  • an helix-turn-helix (HLH) homeo domain
  • two leucine zippers
  • mono polymer homomer , heteromer
    HOMOLOGY
    interspecies ortholog to murine Etl1
    ortholog to yeast Fun30
    Homologene
    FAMILY
  • DEAD/H box-containing helicase superfamily
  • SNF2/RAD54 helicase family
  • CATEGORY DNA associated , RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • playing a role in genetic instability development
  • DNA-dependent ATPases that are catalytic subunits of chromatin-remodeling complexes
  • key factor required for the re-establishment of repressive chromatin
  • promotes methylation of H3K9, the establishment of heterochromatin, and faithful chromosome segregation
  • potentially ensures that silenced loci, such as pericentric heterochromatin, are correctly perpetuated
  • SMARCAD1, like Fun30, plays a direct role in DNA end resection and recombinational DSB repair
  • cell cycle-regulated by interaction with the DSB-localized scaffold protein TOPBP1
  • CELLULAR PROCESS nucleotide, genomic integrity
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • endogenous SMARCAD1/KIAA1122 binds with TRIM28, a recently highlighted transcriptional regulator in the cancer field
  • modulates the interaction of HDAC1 and TRIM28 with heterochromatin
  • may function in the DNA damage response since it is phosphorylated at canonical (S/TQ) ATM/ATR phosphorylation sites, as well as at non-canonical sites, in response to genotoxic insults
  • interplay between the remodeling activity of SMARCAD1 and histone acetylation by CREBBP sheds light on the function of chromatin and the genome-integrity network
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ADERM
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    can be a promising target for metastatic breast cancer therapy
    ANIMAL & CELL MODELS