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FLASH GENE
Symbol FRAS1 contributors: mct/npt/pgu - updated : 16-03-2013
HGNC name Fraser syndrome 1
HGNC id 19185
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Skin/Tegumentskin     Homo sapiens
Urinarykidneytubulecollecting duct  
 kidneyrenal medulla   
 kidneynephron   
 ureter    
cells
SystemCellPubmedSpeciesStageRna symbol
Urinaryduct cell
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text epidermal cells, glomerulus podocytes
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal signal peptide and and extracellular, N-terminal domain with repeated von Willebrand factor type C and cysteine-rich partial furin motifs
  • six von Willebrand factor type C (VWFC) domains
  • fourteen furin -like domains
  • a NG2-like region
  • a transmembrane domain
  • twelve CSPG (NG2) repeats
  • five CALX-beta domains
  • a cytosolic tail at C-terminus with hypothetical PDZ-binding motif (linking with GRIP1)
  • an extracellular repeated chondroitin sulphate proteoglycan domain
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Fras1
    Homologene
    FAMILY
  • FRAS1 family
  • CATEGORY structural protein , transport carrier
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • extracellular matrix protein, basement membrane-associated protein
  • prominently expressed in vesicles, which are epithelial spheroids arising from metanephric mesenchyme (MM) aggregates
  • FRAS1 and FREM2 were colocalized with FREM3 in the basement membrane of certain skin parts, underlying the thin-layer, of rapidly proliferating keratinocytes, whereas FREM1 was detected only in the basement membrane of the tail
  • basic FUNCTION
  • involved in electron transport and probably in metanephronic differentiation
  • having a role in both structure and signal propagation during embryonic development
  • may be required for the formation of normal glomeruli
  • needed for the initiation of the metanephric kidney but also may have a function at a later stage of development, namely in the formation of glomeruli, filtering units of the kidney
  • not only initiates kidney development but may also be required for the formation of normal glomeruli
  • involved in the structural adhesion of the skin epithelium to its underlying mesenchyme
  • not only essential as a component of a macromolecular complex for the extracellular stabilization of FREM2 but it is also required for its proper intracellular trafficking and export from embryonic epithelial cells
  • share common polypeptide repetitive motifs with possible interactive and organizing functions
  • potentially compensate for the activity of collagen VII, a major anchoring component of the sublamina densa, the levels of which rise only during late embryonic life
  • having a role in the structure and function of basement membrane
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , extracellular transport , electron transport
    PATHWAY
    metabolism
    signaling
    a component
  • part of a ternary complex that includes FREM1 and FREM2
  • INTERACTION
    DNA
    RNA
    small molecule
  • Ca2+
  • protein
  • interacting with GRIP1 and GRIP2 for normal localization
  • interacting with FREM1 and FREM2 (are simultaneously stabilized at the lowermost region of the basement membrane by forming a macromolecular ternary complex)
  • FRAS1 and VWA2 interact directly via their chondroitin sulfate proteoglycan (CSPG) and P2 domains
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FRAS1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in isolated Congenital anomalies of the kidney and urinary tract (CAKUT)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    blebbed (Bl)mouse with perturbations of the composition of the extracellular space underlying epithelium is the murine model of human Fraser syndrome