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FLASH GENE
Symbol COL13A1 contributors: mct - updated : 11-01-2016
HGNC name collagen, type XIII, alpha 1
HGNC id 2190
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
a transmembrane segment (TM1)
conjugated GlycoP
mono polymer homomer , trimer
HOMOLOGY
Homologene
FAMILY type IV collagen family
CATEGORY structural protein
SUBCELLULAR LOCALIZATION extracellular
    plasma membrane
    intracellular
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,endoplasmic reticulum
text
  • localized to the human muscle motor endplate
    • basic FUNCTION
  • involved in maintenance of connective tissues
  • likely has an important role in bone modeling, and in particular, it may have a function in coupling the regulation of bone mass to mechanical use
  • nonfibrillar transmembrane collagen
  • is a novel muscle-derived cue necessary for the maturation and function of the vertebrate NMJ
  • crucial role of COL13A1 in the formation and maintenance of the neuromuscular junction (NMJ)
  • essential role in the organization of terminal Schwann cells and NMJ formation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component trimers of two alpha 1(IV) and one alpha 2(IV) chain
    INTERACTION
    DNA
    RNA
    small molecule
    protein interacting by its ectodomain with fibronectin,heparin,nidogen2 and perlecan
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMS19
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • electrophysiological recordings from the Col13a1-/- mice indicated impaired presynaptic function