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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
DNA
TYPE functioning gene
STRUCTURE 71.62 kb     17 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Map pter - D3S1597 - [D3S3589 - D3S1263 - D3S1259 - D3S3701 - D3S3610 - D3S1585 - D3S1554 - D3S3608 - D3S3473 - D3S3595 - D3S1286 ] - D3S2338 - D3S1293 - cen
Authors Donger (98)
Text [COLQ ]
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