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FLASH GENE
Symbol CD109 contributors: mct - updated : 15-03-2016
HGNC name CD109 molecule
HGNC id 21685
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N-terminal leader peptide
  • 17 potential N-linked glycosylation sites
  • alpha-2-macroglobulin motif
  • a C-terminal GPI anchor cleavage-addition site, that is required for its presence in the exosome
    • conjugated GlycoP
    mono polymer monomer
    HOMOLOGY
    interspecies ortholog to murine CD109
    Homologene
    FAMILY
  • protease inhibitor I39 (alpha-2- macroglobulin) family
    • CATEGORY antigen
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    text bound to the cell membrane by a GPI anchor
    basic FUNCTION
  • endopeptidase inhibitor activity with a wide spectrum of protein targets, which attaches through its thioester function
  • may play a role in hematopoiesis ans in hemostasis
  • may play a role in the development of lung squamous cell carcinoma
  • plays a unique role in the regulation of isoform-specific TGF-beta signaling in keratinocytes
  • CD109 associates with caveolin-1 (CAV1), a major component of the caveolae
  • CD109 regulates TGFB1 receptor endocytosis and degradation to inhibit TGFB1 signaling
  • has the characteristics of a cancer-testis antigen
  • might be an important regulator of osteoclastogenesis
  • soluble CD109 antagonizes TGFB1-induced Smad2/3 phosphorylation, transcription and cell migration
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling
    a component
  • component of the TGF-beta receptor system, and a negative modulator of TGF-beta responses in keratinocytes
  • is a component of the exosome in conditioned medium
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CD109, a GPI-anchored protein, is a TGFB1 co-receptor and a negative regulator of TGFB1 signaling
  • HSP90B1 serves as an essential chaperone for the cell-surface protein glycoprotein A repetitions predominant (CD109), which is a docking receptor for latent membrane-associated TGFB1
  • CD109, a glycosylphosphatidylinositol (GPI)-anchored protein, is a novel TGFB1 co-receptor that negatively regulates TGFB1 signalling and responses
    • cell & other
    REGULATION
    activated by proteolytic cleavage and then capable of thioester-mediated covalent binding to adjacent molecules or cells
    Other processing of CD109 into 180kDa and 25kDa proteins by furin, followed by complex formation with TGF-beta receptor is required for the regulation of TGF-beta signaling in cancer cells and keratinocytes (Hagiwara 2010)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    expressed in myoepithelial cells of mammary, salivary, and lacrimal glands; and in prostate basal cells
    tumoral     --over  
    in cervical squamous cell carcinomas than in endometrial adenocarcinomas
    tumoral     --over  
    significantly overexpressed in pancreatic tumors compared to normal pancreas
    tumoral     --over  
    in cutaneous squamous cell carcinoma
    constitutional       gain of function
    in scleroderma or systemic sclerosis (SSc)
    Susceptibility
    Variant & Polymorphism SNP Gov alleles differ by an A to C single nucleotide polymorphism at position 2108 of the coding region, resulting in a tyr/ser substitution at CD109 amino acid 703 and this SNP correlates with the Gov phenotype
    Candidate gene useful marker for the diagnosis of invasive breast and prostate carcinomas
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    dermatologyskin 
    potential therapeutic value for the treatment of Scleroderma or systemic sclerosis (SSc)
    ANIMAL & CELL MODELS