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FLASH GENE
Symbol COLQ contributors: mct/npt - updated : 19-09-2023
HGNC name collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
HGNC id 2226
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a high conserved proline-rich attachment domain (PRAD) that interacts with AChE(T)
  • two cysteines that form disulfide bonds with AChE(T)
  • a collagen domain
  • a central helicoidal domain
  • a secretion signal peptide
  • a proteoglycan binding domains that anchor the tripal helical domain to the basal lamina
  • a C terminal conserved domain
  • secondary structure triple helix stabilized by disulfide bonds
    mono polymer homomer , trimer
    HOMOLOGY
    interspecies homolog to murine Colq
    Homologene
    FAMILY
  • COLQ family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text
  • synapses and basal lamina
  • expressed in slow and fast muscle fibers
  • basic FUNCTION
  • collagen-like tail responsible for the anchorage of ACHE to the synaptic basal lamina (Deprez 2000)
  • could be limiting in the assembly of synaptic COLQ-ACHE during development and differentiation (Ruiz 2009)
  • in addition to its structural role, has important regulatory functions at the synapse by controlling ACHR clustering and synaptic gene expression through its interaction with MUSK (Sigoillot 2010)
  • anchors and accumulates ACHE in the extracellular matrix (Sigoillot 2010)
  • plays an important structural role at vertebrate neuromuscular junctions (NMJs) by anchoring and accumulating acetylcholinesterase (AChE) in the extracellular matrix (ECM)(Sigoillot 2010)
  • COLQ controls the development and the maturation of the postsynaptic domain by regulating synaptic gene expression
  • nonfibrillar collagen that plays a crucial role at the vertebrate neuromuscular junction (NMJ) by anchoring acetylcholinesterase to the synapse
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • anchoring into the basal lamina
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with perlecan/dystroglycan and the muscle-specific receptor tyrosine kinase (MUSK), key molecules in the NMJ formation (Sigoillot 2010)
  • interaction of COLQ to perlecan and MUSK is crucial for anchoring ACHE to the neuromuscular junction (NMJ)
  • SRSF1 and HNRNPH1 antagonistically modulate splicing by binding exclusively to the target in exon 16 of COLQ (
  • COLQ anchors acetylcholinesterase (ACHE) in the synaptic cleft of the neuromuscular junction (NMJ)
  • COLQ binds directly to LRP4 but not to MUSK and COLQ interacts indirectly with MUSK through LRP4
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMS1C
    related resource ESTHER wwwserver:ESTerases and alpha/beta Hydrolase Enzymes and Relatives
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in ColQ-CTD cause endplate ACHE deficiency by compromising COLQ-MUSK interaction at the neuromuscular junction (NMJ)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS