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FLASH GENE
Symbol SMAD1 contributors: mct/ - updated : 28-08-2015
HGNC name SMAD family member 1
HGNC id 6767
Location 4q31.21      Physical location : 146.402.950 - 146.480.323
Synonym name
  • MAD, mothers against decapentaplegic homolog 1 (Drosophila)
  • TGF-beta signaling protein 1
  • MAD, mothers against decapentaplegic homolog 1
  • mothers against DPP homolog 1
  • transforming growth factor-beta signaling protein 1
  • Sma- and Mad-related protein 1
  • Synonym symbol(s) BSP1, MADR1, MADH1, JV4-1, JV41, GARS
    DNA
    TYPE functioning gene
    STRUCTURE 77.38 kb     7 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text two variants encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 splicing 2880 52.1 465 - 1996 8637600
  • using an alternate 5' exon compared to variant 1
  • encoding the same protein than variant 1
  • 7 splicing 3056 52.1 465 - 1996 8637600
    encoding the same protein than variant 2
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestivepharynx   highly
    Endocrineneuroendocrinepituitary  highly
    Reproductivefemale systemuteruscervix highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text ubiquitous during testis development but becomes cell-specific in the adult
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • Dwarfin MH1 DNA binding domain including a nuclear localization-like signal (NLS-L), a double loop region
  • a linker region
  • a MH2 heterodimerization and transactivation domain
  • Smad1C domain, characterized as interacting with HOXC8 and then crippling its DNA-binding ability and exhibiting bone anabolic activity in cell
  • secondary structure beta hairpin
    conjugated PhosphoP
    mono polymer complex
    HOMOLOGY
    interspecies homolog to Drosophila Mad (mothers against dpp) gene JV4-1
    Homologene
    FAMILY
  • dwarfin/SMAD family
  • CATEGORY regulatory , transcription factor , signaling growth factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text
  • translocating to nucleus after binding to MADH4
  • cytoplasm in the abscence of ligand
  • basic FUNCTION
  • intracellular mediator of TGFB family of cytokines
  • SMAD1 signaling pathway plays a role in cardioprotection against ischemia-reperfusion injury
  • activating osteopontin and osteoprotegerin gene expression by dislodging HOXC8 from its DNA binding sites
  • playing a role in the integration of spatial information and in the niche-size-dependent control of embryonic stem cell self-renewal and differentiation
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    activating BMP signaling when phosphorylated ; SMAD1 signaling pathway
    a component
  • associating with SMAD
  • forming a complex with STAT3 bridged by EP300, involved in the cooperative signaling of LIF and BMP2
  • potential novel regulatory loop of BMP4-SMAD1-WIF1-Wnt/beta-catenin in coordinating BMP and Wnt pathways to control fetal lung development
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with the activin receptors
  • ADP-ribosylation of SMAD proteins by PARP1 is a key step in controlling the strength and duration of SMAD-mediated transcription
  • UCHL3 physically interacts with SMAD1 and dramatically decreases the amount of poly-ubiquitinated SMAD1
  • binds to SMAD1, SMAD5 and SMAD9, and represses bone morphogenetic protein (BMP) signaling responses
  • CREBZF inhibits the function of BMP6 by interacting with SMAD1, SMAD5, SMAD9
  • SERTAD1 acts likely as a SMAD1 transcriptional co-activator to promote the expression of BMP target genes during cardiogenesis
  • cell & other
    REGULATION
    activated by BMPR1A (serotonin transactivates BMPR1A, to activate SMAD 1/5/8 via Rho and Rho kinase in pulmonary artery smooth muscle cells; Rho and Rho kinase also participate in the activation of Smads by BMP)
    induced by TGFbeta (can significantly induce SMAD1 phosphorylation in several non-endothelial cell lineages)
    MMP14 contributes to tumor growth
    Other undergoing phosphorylation by BMP type 1 receptor kinase BMP/MADH1 signaling inhibited by MADH6
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene as bone anabolic agents to treat bone pathologies
    Marker
    Therapy target as bone anabolic agents to treat bone pathologies
    ANIMAL & CELL MODELS