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FLASH GENE
Symbol COL25A1 contributors: mct - updated : 31-01-2011
HGNC name collagen, type XXV, alpha 1
HGNC id 18603
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a TSP N-terminal domain
  • three collagen-like Gly-X-Y repeat motifs flanked by four non-collagenous domains
  • an 8-AA-long sequence located in non-collagenous domain 2 was found to be crucial for the interaction with APP
  • conjugated GlycoP
    mono polymer dimer , trimer
    isoforms Precursor precursor as CLAC-P/collagen type XXV.
    HOMOLOGY
    interspecies homolog to murine Col25a1
    Homologene
    FAMILY
  • collagen superfamily
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    text type II transmembrane protein
    basic FUNCTION
  • regulation of transcription DNA dependent
  • assembles APP fibrils into fibril bundles that have an increased resistance to proteases
  • may be involved at an intermediate stage in the pathogenesis by binding to APP fibrils, including fibrils formed from peptides with truncated N- or C-termini, and thereby slows their growth
  • anti-amyloidogenic roles in the pathophysiology of Alzheimer disease
  • promotes Alzheimer disease-like pathology
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • extracellular domain is secreted after cleavage by furin
  • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • amyloid beta peptide binding at the cell surface
  • binds to APP with high affinity (the central region of APP is necessary and sufficient for this interaction, and the aggregation state of APP as well as the presence of negatively charged residues is important)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DURS3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    Alzheimer disease
    Susceptibility to Alzheimer disease
    Variant & Polymorphism other genetic evidence of association between COL25A1 and risk for Alzheimer disease
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativealzheimer
    modulation of COL25A1 function may represent an alternative therapeutic intervention for Alzheimer disease
    neurologyneurodegenerativealzheimer
    useful for future therapeutic interventions aimed at finding compounds that modulate the binding of COL25A1 to APP deposits
    ANIMAL & CELL MODELS
    Col25a1 knockout mice exhibited loss of motor axon elongation and branching in the muscles, which resulted in axon degeneration