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FLASH GENE
Symbol MTSS1 contributors: mct - updated : 05-09-2016
HGNC name metastasis suppressor 1
HGNC id 20443
Location 8q24.13      Physical location : 125.563.027 - 125.740.730
Synonym name missing in metastasis
Synonym symbol(s) KIAA0429, MIM, MIMA, MIMB
DNA
TYPE functioning gene
STRUCTURE 177.74 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
text structure
  • promoter region was sparsely methylated, and the methylation inhibitors failed to abolish DNMT3B-mediated MTSS1 silencing
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 5054 - 755 - 2003 12570871
    15 - 5066 - 759 - 2003 12570871
    14 - 4979 - 730 - 2003 12570871
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Cardiovascularheart   highly
    Digestiveliver    
    Endocrinepancreas    
    Nervousbrain    
    Reproductivemale systemprostate   
    Respiratorylung    
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal 250 aa IRSp53/MIM homology domain (IMD)
  • a I-BAR domain
  • an actin-binding C-terminal WASP-homology domain 2 (WH2) domain may be involved in cell motility and/or shape)
  • HOMOLOGY
    interspecies homolog to murine BC024131
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,cytoplasm,cytoskeleton,microfilament
    basic FUNCTION
  • involved in cytoskeletal organization by sequestering actin monomers
  • both a SHH-responsive gene and a new member of the pathway that modulates GLI responses during growth and tumorigenesis
  • prognostic indicator of disease-free survival in breast cancer patients and demonstrates the ability to play a role in governing the metastatic nature of breast cancer cells
  • required at the basal body of mesenchymal cells for cilia maintenance, SHH responsiveness, and de novo hair follicle formation
  • promotes ciliogenesis by antagonizing Src-dependent phosphorylation of Cortactin
  • involved in the Shh signaling pathway in the developing hair follicle and in basal cell carcinomas of the skin
  • acts as a scaffold protein that interacts with multiple partners to regulate actin dynamics
  • may act as a scaffold protein to activate actin assembly
  • tissue-specific regulator of plasma membrane dynamics, whose altered expression levels have been linked to cancer metastasis
  • modulates interplay between the actin cytoskeleton and plasma membrane to promote the maintenance of intercellular contacts in kidney epithelia
  • required for neural fold elevation and apical constriction along with cell polarization and elongation in both the superficial and deep layers of the anterior neural plate
  • function as a cytoskeletal protein with a role in cancer metastasis
  • exerted tumor suppressor effects and arrested cells in the G2/M phase, but not the G1/S phase of the cell cycle when it was depleted or overexpressed in hepatocellular carcinoma (HCC) cells
  • enhances the localization of the epidermal growth factor receptor (EGFR) to the plasma membrane
  • MTSS1 positively modulates EGF signaling at low cell densities to promote proliferation and, therefore, may be beneficial for the early stages of primary head and neck squamous carcinoma cells tumor growth
  • promotes the ability of melanocytic cells to metastasize and engages actin dynamics via Rho-GTPases and cofilin in this process
  • might have a context-dependent function and could act as a tumor suppressor, which is pharmacologically targetable in Acute Myeloid Leukemia patients
  • nucleator of dendritic spines, accumulated to future spine initiation sites in a PIP2-dependent manner and deformed the plasma membrane outward into a proto-protrusion
  • acts as oncogene and pro-migratory factor in melanoma tumors
  • MTSS2, MTSS1, BAIAP2 promote negative, concave curvature based on their ability to self-associate, having distinct functions in synapse formation and synaptic plasticity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to actin monomer and RPTP delta
  • binds to DAAM1 and couples non-canonical Wnt signaling to neural tube closure
  • DNMT3B protein bound directly to the 5prime-flanking region (-865/-645) of the MTSS1 gene to inhibit its transcription
  • impacts negatively on EGF signaling and this suggests why it inhibits metastasis
  • MTSS1/TP63 axis might be functionally important to regulate breast tumor progression
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    of PDIA3, LYAR, NOP14, NCALD and MTSS1 genes in the ovarian cancer with poor prognosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • independent predictor for tumor recurrence and overall survival in patients with cholangiocarcinoma
  • Therapy target
    SystemTypeDisorderPubmed
    cancerdigestiveoesophagus
    important target for cancer therapy in oesophageal squamous cell carcinoma
    ANIMAL & CELL MODELS
  • Mtss1-deficient mice displayed a severe urinary concentration defect caused by compromised integrity of kidney epithelia intercellular junctions, which led to bone abnormalities and end-stage renal failure
  • Mim-deficient mice displayed altered glutamatergic synaptic transmission and compatible behavioral defects