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FLASH GENE
Symbol COLQ contributors: mct/npt - updated : 17-05-2010
HGNC name collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
HGNC id 2226
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 splicing 3007 48 455 - Ohno, Deprez (2000)
also called COLQ - variant I
17 splicing 3136 46.4 445 - Ohno, Deprez (2000)
also called COLQ - variant II
16 splicing 2905 - 421 - Ohno, Deprez (2000)
  • also called COLQ - variant III
  • missing exon 3
  • - splicing 2999 - 451 - Ohno (2000)
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Lymphoid/Immunespleen    
     thymus    
    Reproductivemale systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Muscularmyoblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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)
  • 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)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMS1C
    related resource ESTHER wwwserver:ESTerases and alpha/beta Hydrolase Enzymes and Relatives
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS