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FLASH GENE
Symbol BAMBI contributors: mct - updated : 24-11-2020
HGNC name BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)
HGNC id 30251
Location 10p12.1      Physical location : 28.966.423 - 28.971.868
Synonym name
  • putative transmembrane protein
  • non-metastatic gene A protein
    • Synonym symbol(s) NMA
    DNA
    TYPE functioning gene
    STRUCTURE 5.44 kb     3 Exon(s)
    regulatory sequence Promoter
    text structure
  • BMP-responsive elements in the promoter
  • three tandem repeats of 13 bp sequences containing the SMAD-binding elements, which are distinct from the BMP-responsive element
    • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 1732 - 260 - 2009 19758997
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   highly
    Endocrineplacenta    
    Nervousbrainhindbrainmedulla oblongata  
    Urinarykidney   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell Homo sapiens
    Lymphoid/Immunemacrophage Homo sapiens
    Skin/Tegumentmelanocyte
    cell lineage
    cell lines melanoma cell lines (poorly metastatic)
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    Text placenta, trabecular meshwork
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP
    isoforms Precursor
    HOMOLOGY
    interspecies ortholog to rattus Bambi
    Homologene
    FAMILY
  • BAMBI family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text transmembrane glycoprotein
    basic FUNCTION
  • functioning as a negative regulator of TGF-beta signaling during development
  • pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling
  • promotes the expression of c-myc and cyclin D1 and increases Wnt-promoted cell cycle progression and can function as a positive regulator of the Wnt/beta-catenin pathway to promote cell proliferation
  • antagonist of TGF-beta family members by acting as a pseudoreceptor to block the interaction between signaling type I and type II receptors
  • act as a negative feedback regulator of BMP signaling during embryo development
  • can promote Wnt signaling by enhancing the interaction of the Wnt receptor Frizzled5 and the downstream mediator Dishevelled2, implicating that BAMBI might integrate different cellular signaling pathways
  • role for BAMBI in regulating endothelial function having potential implications for understanding and treating vascular disease and tumor neo-angiogenesis
  • plays a key role in the pathogenesis and progression of osteosarcoma by regulating the expression of CTNNB1 and other signaling molecules via the pathways involved in the regulation of the cell cycle
  • is a pseudoreceptor that regulates the activity of TGFB1 and BMP signalling during chondrogenesis
  • may be involved in macrophage differentiation in gliomas
  • BAMBI-mediated a significant signaling pathway may be an essential part of muscle growth and regeneration
  • could promote the polarization process of M2 macrophages to M1 macrophages via the TGFB1/SMAD signalling pathway
  • overexpression of BAMBI could decrease the ability of M2 macrophages to induce Treg differentiation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • can synergize with SMAD7 to inhibit TGF-beta signaling by forming a ternary complex with ALK5 and SMAD7 and inhibiting the interaction between ALK5 and R-Smads
  • is an inhibitor of the TGFB1 signaling pathway
  • BAMBI expression was dose-dependently downregulated by Noggin
  • hypoxic conditions promote TGFB1 signaling in a HIF1A-dependent manner and BAMBI is identified in this pathway as a novel HIF1A-regulated gene that contributes to hypoxia-induced loss of epithelial polarity
  • leptin can promote epithelial-mesenchymal transition (EMT) in Benign prostatic hyperplasia (BPH) through downregulating BAMBI
    • cell & other
    REGULATION
    induced by BMP signaling
    TGF-beta signaling
    Other is regulated by lysosomal and autolysosomal degradation
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    beta-catenin is responsible for the aberrant expression of BAMBI in colorectal tumor cells
    tumoral     --low  
    hypermethylation of the BAMBI gene promoter that leads to BAMBI gene suppression may be one of the epigenetic events affecting the invasiveness or aggressiveness of bladder cancers
    tumoral     --low  
    n metastatic melanoma cell lines
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS