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FLASH GENE
Symbol RHBDF1 contributors: mct - updated : 18-02-2016
HGNC name rhomboid family 1 (Drosophila)
HGNC id 20561
Location 16p13.3      Physical location : 108.058 - 122.629
Synonym name epidermal growth factor receptor, related sequence
Synonym symbol(s) EGFR-RS, FLJ2235, Dist1, C16orf8, gene-89, gene-90, hDist1, p100(hRho)
DNA
TYPE functioning gene
STRUCTURE 14.57 kb     18 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
18 - 3091 100 855 - 2009 18832597
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Endocrineplacenta    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • seven-transmembrane domains
  • a long N-terminal cytoplasmic extension that comprises half of the polypeptide sequence
    • HOMOLOGY
    interspecies homolog to murine Rhbdf1
    homolog to rattus LOC303008
    Homologene
    FAMILY rhomboid family
    CATEGORY receptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text localizes mainly in the endoplasmic reticulum
    basic FUNCTION
  • its function is essential to epithelial cancer cell growth, and has a pivotal role in sustaining growth signals in epithelial cancer cells
  • participates in the modulation of GPCR-mediated EGFR transactivation
  • critically involved in a GPCR ligand-stimulated process leading to the activation of latent EGFR ligands
  • may be potentially associated with mammalian spermatogenesis
  • can regulate epithelial cancer cell growth and survival, possibly via GPCR-mediated EGFR signaling and/or by interacting with TGFalpha ligands
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with TGF-alpha ligands through a luminal interaction with the EGF core ectodomain
  • FRMD8 binds to RHBDF1, RHBDF2, enhancing the cell surface stability of RHBDF1, RHBDF2 and ADAM17, preventing their degradation in lysosome (
  • FRMD8 binds to the cytoplasmic N-terminus of RHBDF1, RHBDF2 and is necessary to stabilise RHBDF1, RHBDF2 and ADAM17 at the cell surface
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    may serve as a therapeutic target for treating epithelial cancers
    ANIMAL & CELL MODELS