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FLASH GENE
Symbol TRPS1 contributors: mct - updated : 12-05-2017
HGNC name trichorhinophalangeal syndrome I
HGNC id 12340
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