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FLASH GENE
Symbol GDF1 contributors: mct - updated : 02-11-2014
HGNC name growth differentiation factor 1
HGNC id 4214
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • TGF beta like domain
    • mono polymer homomer , dimer
    isoforms Precursor cleaved at a consensus Arg-X-XArg to yield a C terminus mature protein containing seven conserved cysteine residues
    HOMOLOGY
    interspecies ortholog to Xenopus Vg1
    Homologene
    FAMILY
  • BMP family
  • transforming growth factor-beta superfamily
    • CATEGORY signaling growth factor
    SUBCELLULAR LOCALIZATION extracellular
    text secreted
    basic FUNCTION
  • regulator of cell growth and differentiation
  • functions as a coligand for NODAL, and regulates the activity and signaling range of NODAL through direct interaction
  • functional complementarity between GDF1 and GDF3 during embryonic development
  • participates in early embryo patterning
  • may be essential for the asymmetric gene expression in the left lateral plate mesoderm by acting in a synergetic manner with NODAL
    • CELLULAR PROCESS cell life, differentiation
    cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS development
    text left-right (L/R) asymetry
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with NODAL and thereby greatly increases its specific activity
  • interacting with CRIPTO (CRIPTO acts as an obligate coreceptor for transforming growth factor beta (TGF-beta) ligands, including nodals, growth and differentiation factor 1 (GDF1), and GDF3)
  • during development, NODAL depends on growth and differentiation factor GDF1 and on the shared co-receptor CFC1 to specify visceral left-right axis asymmetry
  • NODAL·GDF1 heterodimers with bound prodomains enable serum-independent nodal signaling and endoderm differentiation
  • PITX2 is essential for axis formation, and it acts as a direct regulator of GDF1 expression by binding to enhancers within neighbouring genes
    • cell & other
    REGULATION
    activated by cleaved by subtilisin-like convertases
    ASSOCIATED DISORDERS
    corresponding disease(s) CTHMG , RAI
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Gdf-/- mice lack a left-sided expression of NODAL, lefty2, Pitx2, have randomized situs and right pulmonary isomerism