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FLASH GENE
Symbol TRPS1 contributors: mct - updated : 12-05-2017
HGNC name trichorhinophalangeal syndrome I
HGNC id 12340
Corresponding disease
HTC1 hypertrichosis universalis congenita, Ambras type
TRPS1 trichorhinophalangeal syndrome, type I
TRPS2 trichorhinophalangeal syndrome, type II
TRPS3 trichorhinophalangeal syndrome, type 3
Location 8q23.3      Physical location : 116.420.724 - 116.681.228
Synonym name
  • zinc finger protein GC79
  • zinc finger transcription factor Trps1
  • Synonym symbol(s) GC79, MGC134928, LGCR
    DNA
    TYPE functioning gene
    STRUCTURE 261.14 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - (D8S130 - D8S558 - D8S555 - D8S542 - D8S50 - D8S547 - D8S98 - TRPS1 TRPS1 - D8S51 - EIF3H - RAD21 - D8S592 - D8S352 - D8S67 - EXT1 EXT1 - D8S527 - D8S43 - D8S114 - D8S47 - TNFRSF11B - D8S199 - D8S269 - D8S586 ) - qter
    Authors L�decke (95,00), Momeni (00)
    Text (TRPS2 , minimal deletion)
    Physical map
    CSMD3 8q23.3 CUB and Sushi multiple domains 3 TRPS1 8q24.11 trichorhinophalangeal syndrome I EIF3S3 8q24.13 eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa MGC14595 8q24.11 hypothetical protein MGC14595 RAD21 8q24.11 RAD21 homolog (S. pombe) SLC30A8 8q24.11 solute carrier family 30 (zinc transporter), member 8 TRAP25 EXT1 8q24.11 exostoses (multiple) 1 LOC392263 8 similar to RIKEN cDNA A830094I09 gene LOC286091 8q24.12 similar to 40S ribosomal protein S26 TNFRSF11B 8q24.13 tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) COLEC10 8q24.13 collectin sub-family member 10 (C-type lectin) MAL2 8q23 mal, T-cell differentiation protein 2 NOV 8q24.1 nephroblastoma overexpressed gene LOC392264 8 hypothetical gene supported by AK122835 ENPP2 8q24.13 ectonucleotide pyrophosphatase/phosphodiesterase 2 (autotaxin) HCP23 8q24.12 cytochrome c, somatic pseudogene TAF2 8q24.12 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 9514 141.5 1285 - 2017 27826100
    7 splicing 9990 - 1294 unlikely to be expressed 2017 27826100
    using exon 2
    7 - 10003 - 1287 - 2017 27826100
    - - 9859 - 1281 - 2017 27826100
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
     vesselaorta   
    Digestiveliver    
     mouthtooth   
    Endocrinepancreas    
    Nervousbrain    
    Reproductivemale systemprostate  highly
    Respiratorylung    
    Skin/Tegumentskin appendageshairfollicle  
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skeletonosteoblast
    cell lineage
    cell lines expressed in osteosarcoma cells (Piscopo 2009)
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text placenta, brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • eight putative zinc finger motifs of several types
  • the seventh homolog to a GATA binding sequence
  • two potential nuclear localization signals (LRRRRG and RRRTRKR)
  • an unusual combination of different zinc finger motifs, including IKAROS-like and GATA-binding sequences
  • HOMOLOGY
    interspecies homolog to murine Trps1
    Homologene
    FAMILY
  • GATA-type family of transcription factors
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    text nuclear translocation induced by GDF5 (Itoh 2008)
    basic FUNCTION
  • transcription factor that functions as a repressor for GATA-mediated transcription, androgen-repressible, apoptosis associated
  • repressing transcription of genes involved in chondrocyte differentiation
  • regulator of chondrocytes proliferation and survival through the control of STAT3 expression (Suemoto 2007)
  • plays a pivotal role downstream of GDF5 signaling in promoting chondrogenesis and apoptosis of ATDC5 cells (Itoh 2008)
  • zinc binding involved in skeletal development
  • regulates osteocalcin expression and modulates mineralized bone matrix formation (Piscopo 2009)
  • is a novel regulator of the Wnt signaling pathway and of early hair follicle progenitors in the developing vibrissa follicle
  • TRPS1 directly represses expression of the hair follicle stem cell regulator SOX9 to control proliferation of the follicle epithelium
  • multi zinc-finger nuclear regulator of chondrocyte proliferation and differentiation
  • acts as regulator of histone deacetylation
  • GATA-type transcription factor that acts as a transcriptional repressor
  • is required for odontoblast maturation by supporting expression of genes crucial for initiating the mineralization process, and represses the function of mature cells and, consequently, restricts the extent of extracellular matrix mineralization
  • atypical GATA factor, modulating cell proliferation and controling cell cycle progression
  • acts as a central hub in the control of cell cycle and proliferation during cancer development
  • is a potent regulator of proliferation, differentiation, and apoptosis
  • CELLULAR PROCESS cell life, cell death/apoptosis
    nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    text skeletal development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
  • can directly bind to the osteocalcin promoter independently of the presence of RUNX2, through a GATA binding sequence (Piscopo 2009)
  • RNA
    small molecule metal binding,
  • Zn2+ binding
  • protein
  • with DNCL1 (suppression of repressor activity)
  • interacting with RNF4
  • interacts with RUNX2 and represses RUNX2-mediated trans-activation
  • repressor of STAT3 expression, which in turn controls chondrocyte proliferation and survival by regulating the expression of cyclin D1 and BCL2 (Suemoto 2007)
  • transcriptional control by IRX5 is modulated by direct protein-protein interaction with two GATA zinc-finger proteins, GATA3 and TRPS1
  • TRPS1 interacts with two histone deacetylases, HDAC1 and HDAC4, thereby increasing their activity
  • CTSD also binds to full-length TRPS1
  • TRPS1 acting as a transcription activator, directly induced FOXA1 transcription by binding to the FOXA1 promoter
  • cell & other
    REGULATION
    Other SUMOylated at multiple sites, through interaction with UBE2I
    ASSOCIATED DISORDERS
    corresponding disease(s) TRPS1 , TRPS2 , TRPS3 , HTC1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in androgen-independent prostate cancer and in breast cancer
    constitutional     --low  
    stimulates epithelial-mesenchymal transition and metastasis through repression of FOXA1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice with a disrupted Trps1 gene develop a chondrodysplasia characterized by diminished chondrocyte proliferation and decreased apoptosis in growth plates (Suemoto 2007)
  • lLoss of Trps1 in mice leads to an increased proportion of cells arrested in mitosis and, subsequently, to chromosome segregation defects
  • hair follicle development in Trps1 KO embryos is impaired directly or indirectly by decreased Noggin expression