Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
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