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FLASH GENE
Symbol COL4A5 contributors: mct - updated : 05-12-2011
HGNC name collagen, type IV, alpha 5
HGNC id 2207
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a Gly-X-Y repeat sequence interspersed by small interruptions
  • a non collagenous C terminus with twelve cysteine residues
    • conjugated GlycoP
    mono polymer homomer , heteromer , trimer
    HOMOLOGY
    interspecies homolog to rattus Col4a5 (91.2 pc)
    homolog to murine Col4a5 (91.3 pc)
    Homologene
    FAMILY
  • collagen superfamily
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text located in the glomerular basement, extracellular matrix
    basic FUNCTION
  • playing a role in establishing and maintaining the composition structure and function of mature glomerular basement membrane
  • ROBO/SLIT and COL4A5 might cooperate in the same signaling pathway
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
  • homotrimerizing and heterotrimerizing with COL4A3, COL4A4 kidney restricted
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ATS1 , AMME , ATSDL
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in thin basement membrane disease (FBH)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS