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FLASH GENE
Symbol SOSTDC1 contributors: mct/npt/pgu - updated : 09-09-2013
HGNC name sclerostin domain containing 1
HGNC id 21748
Location 7p21.1      Physical location : 16.501.107 - 16.505.474
Synonym name
  • ectodin
  • cystine knot-containing secreted protein
  • ectodermal BMP inhibitor
  • uterine sensitization-associated protein-1
    • Synonym symbol(s) USAG1, ECTODIN, USAG-1, Wise, DKFZp564D206, CDA019
    DNA
    TYPE functioning gene
    STRUCTURE 4.37 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1883 - 206 - 2004 15020244
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
     vessel   moderately
    Digestivestomach   highly
    Urinarykidneytubuleconvoluted tubuledistal tubulehighly
     kidneynephronrenal capsuleglomerulushighly
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Urinaryepithelial cell
    Urinarypodocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a CTCK (C-terminal cystine knot-like) domain
    • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to rattus Usag1
    ortholog to murine Sostdc1
    intraspecies paralog to SOST
    Homologene
    FAMILY
  • sclerostin family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
    text secreted
    basic FUNCTION
  • may be involved in the onset of endometrial receptivity for implantation/sensitization for the decidual cell reaction
  • enhancing Wnt signaling
  • inhibiting TGF-beta signaling
  • directly antagonizing activity of BMP2, BMP4, BMP6 and BMP7 in a dose-dependent manner, in the developing and adult kidney
  • negatively regulates the renoprotective action of BMP7
  • with MEOX2, may have a role in the progression of Wilms tumorigenesis
  • modulate Wnt signaling and also inhibit BMP signals, and modulation of Wnt signaling activity is brought about by an interaction with the Wnt co-receptor LRP6, whereas BMP inhibition is by binding to BMP ligands
  • having multiple functions at the molecular level, suggesting a possible role in balancing Wnt and BMP signals
  • plays crucial roles in tooth morphogenesis
  • uncovers the role of dental mesenchyme in limiting tooth induction
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    enhancing Wnt signaling ; inhibiting TGF-beta signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • BMP2
  • BMP4
  • BMP6
  • BMP7
  • BMP antagonist
  • binds LRP6 through one of three loops formed by the cystine knot
  • HR repressed the expression of Wnt inhibitors, including SOSTDC1, DKKL1, SFRP1, and SFRP2
  • interplay between LRP4 and SOSTDC1 in inhibiting Wnt/CTNNB1 signaling, providing an insight into how modulation of Wnt/CTNNB1 signaling controls cellular processes important for skin placode formation
  • SOST and its paralog SOSTDC1 coordinate digit number in a GLI3-dependent manner
  • VDR-mediated control of DKKL1, SOSTDC1, and HR gene expression in keratinocytes
    • cell & other
  • binds to neighboring cells and/or the extracellular matrix
    • REGULATION
    induced by by IHH is independent of GLI1
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in Wilms tumor
    tumoral     --low  
    in renal clear cell carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerurinary 
    suppressing proliferation of renal carcinoma cells, restoration of SOSTDC1 signaling may represent a novel target in treatment of renal clear cell carcinoma
    ANIMAL & CELL MODELS
  • Wise-null mice phenocopied a subset of the Lrp4 mammary defects and Wise overexpression reduced the number of mammary precursor cells