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FLASH GENE
Symbol SMAD5 contributors: mct/npt - updated : 28-08-2013
HGNC name SMAD family member 5
HGNC id 6771
Location 5q31.2      Physical location : 135.468.535 - 135.518.422
Synonym name
  • MAD, mothers against decapentaplegic homolog 5 (Drosophila)
  • SMA- and MAD-related protein 5
  • MAD homolog 5
    • Synonym symbol(s) JV5.2, MADH5, Dwfc, DKFZp781O1323, DKFZp781C1895
    DNA
    TYPE functioning gene
    STRUCTURE 49.89 kb     8 Exon(s)
    MAPPING cloned Y linked N status confirmed
    Map cen - IL9 - SMAD5 - D5S393 - D5S89 - D5S399 - SPOCK1 /D5S429 - D5S479 - D5S1983 /HNRNPA0 - D5S414 - CDC25C - BRD8 /D5S2603 - D5S1701 - D5S500 - HSPA9 /D5S2430 - EGR1 - D5S476 - D5S1856 - CTNNA1 - qter
    Authors Zavadil (97), Horrigan (99)
    RNA
    TRANSCRIPTS type messenger
    text an antisense transcript DAMS only expressed in fetal tissues and pancreatic tumor
  • all variants (1-3) encode the same protein
    • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 7012 52.13 465 - Gemma (1998)
    9 - 7096 52.13 465 - Gemma (1998)
    7 - 6937 52.13 465 - Gemma (1998)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinner  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text ubiquitous during testis development but becomes cell-specific in the adult (Itman 2008)
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • Dwarfin (DWA)/MH1 DNA binding domain including a nuclear localization-like signal (NLS-L)
  • a double loop region, followed by a linker region
  • a DWB/MH2 heterodimerization and transactivation domain
    • mono polymer heteromer , trimer , complex
    HOMOLOGY
    interspecies homolog to Drosophila Mad (mothers against dpp) gene JV5-1
    Homologene
    FAMILY
  • dwarfin/SMAD family
    • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus
    text
  • translocating to nucleus after binding to MADH4
  • cytoplasmic in the absence of ligand,translocated to nucleus when complexed with MADH4
  • mitochondrial in chondrogenic cell lines
    • basic FUNCTION
  • intracellular mediator of TGFB family of cytokines
  • BMP4/SMAD5 dependent stress erythropoiesis is required for the expansion of erythroid progenitors during fetal development (Porayette 2008)
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    transducer of TGFB and of bone morphogenetic proteins signaling
    a component
  • heterotrimerizing with MADH4
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RUNX2 (PEBP2A) and SMURF1
  • interacting with activin receptor
  • ADP-ribosylation of SMAD proteins by PARP1 is a key step in controlling the strength and duration of SMAD-mediated transcription
  • 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
  • PLEKHO1 is an activator of the SMURF1 ubiquitin ligase acting to promote the ubiquitylation of SMAD5 and MAP2K1
    • 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) (Liu 2009)
    Other undergoing phosphorylation
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOH    
    in leukemia
    constitutional       loss of function
    deficiency in the SMAD5-mediated signaling resulted in apoptosis of hair cells, suggesting SMAD5 is a gene that may be related with presbycusis (Yang 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    lack of Madh5,(Smad5) expression in mice results in bilateral Nodal expression in lateral plate mesoderm (LPM),embryonic lethality no turning