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FLASH GENE
Symbol SMARCD1 contributors: mct - updated : 07-05-2019
HGNC name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
HGNC id 11106
Corresponding disease
MRSHM mental retardation syndromic, with hypotonia and micromelia
Location 12q13.12      Physical location : 50.478.982 - 50.494.493
Synonym name
  • BRG1 (brm/SWI2-related gene 1) associated factor 60A
  • SWI/SNF complex 60 kDa subunit A
  • SWI/SNF-related matrix-associated actin-dependent regulator of chromatin d1
  • Swp73-like protein; chromatin remodeling complex BAF60A subunit
    • Synonym symbol(s) BAF60A, CRACD1, Rsc6p
    DNA
    TYPE like-sequence
    STRUCTURE 15.51 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Map cen - D12S85 - D12S361 - SMARCD1 - D12S325 - D12S312 - SMARCC2 - D12S1691 - D12S104 - D12S329 - qter
    Authors Ring (98)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 3431 - 515 - 2014 25396734
    12 - 3308 - 474 - 2014 25396734
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunethymus   highly
    Nervousnerve   highly
    Reproductivefemale systemuteruscervix highly
     male systemtestis  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N-terminal fragment containing the TP53-interacting region as well as small interfering RNA for baf60a inhibited the SWI/SNF complex-mediated transcriptional activity of TP53
  • a SWIB domain
  • three predicted coiled-coil domains
    • HOMOLOGY
    interspecies homolog to related to yeast SWP73
    homolog to yeast S.cerevisiae SWI/SNF related protein,Rsc6p
    ortholog to Drosophila Bap60
    Homologene
    FAMILY SWI/SNF chromatin remodeling complex family
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    text matrix associated
    basic FUNCTION
  • actin-dependent regulator of chromatin structure
  • possesses at least two interaction surfaces, one for NR3C1 and SMARCA4 and a second for SMARCC1 and SMARCC2
  • may provide another critical and direct link between nuclear receptors and the BRG1 complex that is required for promoter recruitment and subsequent chromatin remodeling
  • directly interacts with the coactivator groove in the AR ligand-binding domain via its FxxFF motif, thereby selectively activating specific AR-driven promoters
  • likely critical role for SMARCD1 in the coordinated regulation of hepatic circadian clock and energy metabolism in mammals
  • likely key component of the transcriptional control in cardiac progenitors
  • is a critical node integrating the circadian clock and vascular smooth muscle cells (VSMCs) physiological homeostasis
  • EGFR, CALM3 and SMARCD1 play roles in bone and/or fat metabolism
  • is both an activator and a repressor and is enriched at developmental regulators and its chromatin binding coincides with H3K27me3
  • potential role for SMARCD1 in restricting pluripotency and activating lineage pathways by regulating H3K27 methylation
  • SMARCB1, SMARCD1 and SMARCE1 might act as novel pro-senescence factors in both normal and tumor human skin cells
  • regulates the transcription of target genes through the alterations of chromatin structure
  • dietary nutrient-associated impaired expression of SMARCD1 triggers likely cellular senescence and lipid accumulation
  • functional redundancy between SMARCD1 and SMARCD3 in maintaining oxidative and glycolytic metabolism in skeletal myofibers and exercise endurance
  • is required for normal memory, post-development, in adult neurons
  • role of SMARCD1 in establishing proper cognitive functions
  • SMARCD1, D2, D3 proteins are involved in the regulation of numerous hormone-dependent AR-driven genes and play an important, yet paradoxical, role in prostate carcinogenesis
    • CELLULAR PROCESS nucleotide, chromatin organization
    nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component of the chromatin remodeling complex
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with FEZ1
  • interacting with TNIP2 (nuclear TNIP2 defines a novel transcriptional coactivator and acts presumably by recruiting a chromatin-remodeling complex to the site of the target gene)
  • interacting with the tetramerization domain of p53
  • CHFR interacts with SMARCA4, SMARCB1, and SMARCD1 of the SWI/SNF-like BAF complex and ubiquitinates them to target for degradation through a proteasome-mediated pathway, and SMARCC1 stabilizes these components by blocking their interaction with CHFR
  • TBX1 interacts with, and probably recruits a specific subunit of, the BAF complex (SMARCD1) as well as histone methylases to activate or enhance transcription, enhancing SMARCD1 occupation at the WNT5A gene and its H3K4 monomethylation status
  • SMARCA4, SMARCB1, and SMARCD1, but not SMARCC1, are the substrates of CHFR for ubiquitination
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRSHM
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    in skeletal muscle illustrates a surprising disconnect between exercise endurance and systemic metabolic homeostasis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS