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FLASH GENE
Symbol CD109 contributors: mct - updated : 15-03-2016
HGNC name CD109 molecule
HGNC id 21685
Location 6q13      Physical location : 74.405.507 - 74.538.040
Synonym name
  • Gov system alloantigens on platelets
  • CD109 antigen (Gov platelet alloantigens)
  • C3 and PZP-like alpha-2-macroglobulin domain-containing protein 7
  • activated T-cell marker CD109
  • 150 KDa TGF-beta-1-binding protein
  • Synonym symbol(s) FLJ38569, CPAMD7, FLJ41966, RP11-525G3, DKFZp762L1111, p180, r150
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem, overlapping
    text with HEPT3 (Moh 2007)
    STRUCTURE 156.13 kb     33 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    C6orf148 6q13 chromosome 6 open reading frame 148 EIF3S6P1 6q13 eukaryotic translation initiation factor 3, subunit 6 48kDa pseudogene 1 LOC391942 6 similar to syntenin-2alpha LOC391943 6 similar to Multifunctional protein ADE2 LOC340168 6q14.1 similar to developmental pluripotency associated 5; embryonal stem cell specific gene 1 LOC154288 6q14.1 similar to RIKEN cDNA 2410004A20 RPL39P3 6q14.1 ribosomal protein L39 pseudogene 3 DDX43 6q12-q13 DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 C6orf150 6q13 chromosome 6 open reading frame 150 MTO1 6q14.1 mitochondrial translation optimization 1 homolog (S. cerevisiae) EEF1A1 6q14 eukaryotic translation elongation factor 1 alpha 1 LOC389411 6 LOC389411 SLC17A5 6q14-q15 solute carrier family 17 (anion/sugar transporter), member 5 CD109 6q14.1 CD109 antigen (Gov platelet alloantigens)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    33 - 9464 161.7 1445 - 2006 16754747
  • isoform 1
  • precursor
  • 33 - 9119 - 1428 - 2006 16754747
  • isoform 2
  • precursor
  • 32 - 8939 - 1368 - 2006 16754747
  • isoform 3
  • precursor
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvesselsaorta   
    Digestiveesophagus   highly
    digestivemouthgingiva   
    Endocrineparathyroid   predominantly
    Lymphoid/Immunethymus     Homo sapiensFetal
    Reproductivefemale systemuterus   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Muscularsmoothvessel   Homo sapiensFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticplatelet Homo sapiens
    Blood/Hematopoieticprogenitor cell
    Cardiovascularendothelial cell Homo sapiensFetal
    Lymphoid/ImmuneT cell
    cell lineage stem cells
    cell lines
    fluid/secretion
    at STAGE
    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