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FLASH GENE
Symbol TUFT1 contributors: mct - updated : 20-01-2021
HGNC name tuftelin 1
HGNC id 12422
Location 1q21.3      Physical location : 151.512.780 - 151.556.058
Synonym name acidic enamelin protein
DNA
TYPE functioning gene
STRUCTURE 43.30 kb     13 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
cytosine-phosphate-guanine/HTF
Binding site   transcription factor
text structure several GC boxes and several transcription factor binding sites
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 3246 - 409 - 2016 27566398
     - 409 - 2016 27566398
13 - 3107 - 390 - 2016 27566398
12 - 3032 - 365 - 2016 27566398
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
 mouthtongue  highly
 pharynx   highly
Reproductivefemale systembreastmammary gland  
 male systemtestis   
Respiratorylung    
 respiratory tractlarynx  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text tooth bud
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a coiled-coil region
  • myosin-like globular head domain
  • one Iq domain
  • a myosin-like globular head domain
  • HOMOLOGY
    interspecies homolog to murine Tuft1
    Homologene
    FAMILY
    CATEGORY regulatory , storage
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane,junction
        intracellular
    intracellular,cytoplasm
    text concentrated at the dentin-enamel junction and tightly bound to the surface of the growing crystallites
    basic FUNCTION
  • playing a major role in the mineralization and structural organization of enamel
  • playing a role in cytokinesis, cell shape, and specialized functions such as secretion and capping
  • plays an important role in the initial stages of the mineralization of ectodermal enamel
  • TUFT1 promoted tumor growth and metastasis
  • is a key regulator of the MTOR pathway
  • acidic protein constituent of developing and mineralizing tooth tissues, that is regulated by hypoxia and the Hedgehog signaling pathway
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with TFIP11
  • involved in the activation of MTOR through modulating the RABGAP1-regulated process
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in breast cancer samples, and the increased expression of TUFT1 was shown to be positively correlated with tumor size, histological grade, lymph node metastasis rate, and poor prognosis
    tumoral     --over  
    in hepatocellular carcinoma (HCC), and correlated with unfavorable clinicopathologic characteristics and poor survival
    Susceptibility
  • to dental caries, to dental erosion (DE)
  • Variant & Polymorphism other
  • association of rs2337359 upstream of TUFT1 with dental caries, and is involved in gene-by-fluoride interactions
  • significant associations between enamel loss and AMELX, tuftelin 1 (TUFT1), and tuftelin-interacting protein 11 (TFIP11)
  • Candidate gene
    Marker
  • may represent a novel breast cancer marker
  • Therapy target
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    potentially effective therapeutic target in breast cancer
    cancerdigestiveliver
    TUFT1 may function as a potential therapeutic target for the intervention and treatment of HCC
    ANIMAL & CELL MODELS