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FLASH GENE
Symbol TMEFF1 contributors: mct - updated : 06-02-2024
HGNC name transmembrane protein with EGF-like and two follistatin-like domains 1
HGNC id 11866
Location 9q31.1      Physical location : 103.235.716 - 103.339.914
Synonym name
  • chromosome 9 open reading frame 2
  • potential proteoglycan acting as a survival factor for neuronal cells
  • tomoregulin-1
  • cancer/testis antigen family 120, member 1
    • Synonym symbol(s) H7365, C9orf2, TR-1, TR1, CT120.1
    DNA
    TYPE functioning gene
    STRUCTURE 104.40 kb     10 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
    10 - 2501 40.8 380 - 2011 21393249
    9 - 2434 - 454 - 2011 21393249
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheartventricle    Homo sapiens
    Nervousbrain   predominantly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiacmyocardiumhighly Homo sapiens
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • putative extracellular domain
  • signal peptide
  • EGF like domains
  • a serine protease domain (Kazal type)
  • a transmembrane region
  • two potential glycosaminoglycan attachment sites
  • two follistatin-like and an epidermal growth factor-like domain, participating in nodal and bone morphogenetic protein signaling
    • HOMOLOGY
    interspecies homolog to murine Tmeff1
    Homologene
    FAMILY
  • tomoregulin family
    • CATEGORY tumor suppressor
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • expressed on the cell membrane
  • predominantly redistributed to the endoplasmic reticulum (ER) when coexpressed with addicsin (ARL6IP5)
    • basic FUNCTION
  • potential role for TMEFF1 in growth factor signaling (
  • may behave as a tumor suppressor gene in brain cancers
  • inhibits NODAL signaling through direct binding to the nodal coreceptor Cripto
  • having different activities depending on the presence of the cytoplasmic tail and its anchorage to the membrane
  • TMEFF1 and TMEFF2 could be playing similar roles in different tissues and/or developmental stages
  • is a growth factor that is primarily involved in embryonic development and adult central nervous system (CNS) function
  • is a carcinogenic gene in ovarian cancer and can be regulated by TP53 transcription
  • involved in the physiological functions of the central nervous system, embryonic development, and other biological processes
  • acts as a tumor-promoting gene in ovarian cancer
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds to the NODAL coreceptor CRIPTO, but does not associate with either NODAL or the type I ALK (activin receptor-like kinase) 4 receptor
  • tomoregulin-1 (TMEFF1) is a novel addicsin (ARL6IP5)-associated factor
  • ARL6IP5 in the ER controls intracellular TMEFF1 trafficking from the ER to plasma membrane and regulates cell migration through its interaction with TMEFF1
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    lower levels of TMEFF1 expression in brain tumors than normal brain tissue
    tumoral     --over  
    in ovarian cancer cells induced increased cellular proliferation, migration, and invasion but reduced apoptosis
    tumoral     --over  
    of ANHAK and TMEFF1 in ovarian cancer indicated a higher degree of tumor malignancy and a worse prognosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveovary
    may be considered as a potential therapeutic target for ovarian cancer
    cardiovascularcardiomyopathy 
    could be a therapeutic target to control the development of cardiac hypertrophy
    cancerreproductiveovary
    the interaction between AHNAK and TMEFF1 may become a potential anti-tumor target for ovarian cancer treatment
    ANIMAL & CELL MODELS
  • plays a protective role in the modulation of adverse cardiac remodeling from pressure overload in mice
  • high Tgfb1 doses increased tomoregulin-1 (Tmeff1) levels, resulting in the repression of Bmp2 and bone formation in mice