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FLASH GENE
Symbol TSC22D1 contributors: mct/npt - updated : 04-07-2011
HGNC name TSC22 domain family, member 1
HGNC id 16826
Location 13q14      Physical location : 45.007.660 - 45.150.701
Synonym name
  • transforming growth factor beta-stimulated protein TSC-22
  • transforming growth factor beta 1 induced transcript 4
  • cerebral protein 2
  • Synonym symbol(s) MGC17597, TSC22, TGFB1I4, RP11-269C23.2, DKFZp686O19206
    DNA
    TYPE functioning gene
    STRUCTURE 143.05 kb     5 Exon(s)
    regulatory sequence Promoter (TATA box)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 splicing 1791 15.5 144 - 2011 21448135
  • isoform 2
  • induced cell death
  • up-regulated in BRAF(E600)-induced senescence, in both fibroblasts and melanocytes
  • 3 splicing 4837 109.5 1073 - 2011 21448135
  • isoform 1
  • potential regulator of cell death during mammary gland involution
  • suppressed TGFbeta-induced cell death and enhanced proliferation in mammary epithelial cell lines
  • large protein variant suppressed by proteasomal degradation
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Digestiveintestine   moderately
     pancreas exocrine   moderately
     stomach   moderately
    Endocrineneuroendocrinepituitary  moderately
     parathyroid   highly
    Hearing/Equilibriumear   predominantly
    Nervousbrain   moderately
     nerve   highly
    Reproductivefemale systemuteruscervix highly
    Respiratorylung   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text pancreas, highly in umbilical cord
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a leucine zipper
  • a C terminus rich in glutamine and proline
  • two potential phosphorylation sites
  • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Tsc22d1 (86.3 pc)
    homolog to chicken TSC22D1 (71.4 pc)
    Homologene
    FAMILY
  • TSC-22/DIP/BUN family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • being a transcriptional repressor acting on the C-type natriuretic peptide (CNP) promoter
  • regulating cell growth, differentiation and cell death
  • modulating the transcriptional activity of SMAD3 and SMAD4
  • normally contributes to the regulation of hematopoietic precursor cells function and is a putative tumor suppressor gene that is hypermethylated and silenced in T or NK large granular lymphocyte leukemia
  • postulated role as an enhancer of CNP transcription, suggesting that TGFbeta-induced upregulation of CNP expression in vascular smooth muscle cells may be mediated in part by increased transcription of TSC22D1
  • TSC22D1 regulates TGFB1 signaling via a positive-feedback mechanism and may contribute to myocardial fibrosis
  • CELLULAR PROCESS cell life, differentiation
    cell life, proliferation/growth
    cell life, cell death/apoptosis
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • can form an heterodimer with TSC22D4
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to Smad3 and Smad4
  • interacting with TPT1
  • interaction between fortilin and TSC22D1 prevents apoptosis via the destabilization of TSC22D1 in ovarian carcinoma cells
  • TSC22D1 facilitates TGFB1 signaling by antagonizing SMAD7 activity to increase receptor stability
  • cell & other
    REGULATION
    induced by transforming growth factor beta-1 and other growth factors.
    Other destabilization produced by TPT1 interaction
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhead and neck 
    possible target of leukemia therapy
    cancerreproductiveprostate
    candidate therapeutic target in prostate cancer
    ANIMAL & CELL MODELS
  • targeted disruption of TSC22d1 in wild-type mice enhanced proliferation and repopulation efficiency of hematopoietic precursor cells (HPCs)
  • Fat4 and Tsc22d1 are likely candidate genes to influence formation of spontaneous pulmonary adenoma in aging male and female mice, respectively