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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
Corresponding disease
CMS1C congenital myasthenic syndrome, type 1C
Location 3p25.1      Physical location : 15.491.640 - 15.563.258
Synonym name
  • collagenic tail of endplate acetylcholinesterase
  • AChE Q subunit
  • acetylcholinesterase-associated collagen
  • collagenic tail of endplate acetylcholinesterase
  • single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase
    • Synonym symbol(s) EAD, FLJ55041
    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 ]
    Physical map
    FBLN2 3p25-p24 fibulin 2 WNT7A 3p25 wingless-type MMTV integration site family, member 7A FLJ35107 3p25.1 hypothetical protein FLJ35107 LOC391515 3 similar to putative pheromone receptor gV1R1 FLJ31709 MGC3222 3p25.1 hypothetical protein MGC3222 XPC 3p25.1 xeroderma pigmentosum, complementation group C LSM3 3p25.1 LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) SLC6A6 3p25-p24 solute carrier family 6 (neurotransmitter transporter, taurine), member 6 GRIP2 3p24-p23 glutamate receptor interacting protein 2 LOC131973 3p25.1 similar to rhomboid family 1; epidermal growth factor receptor, related sequence LOC51244 3p25.1 hypothetical protein LOC51244 DKFZP434N1817 3p25.1 hypothetical protein DKFZp434N1817 FGD5 3p25.1 FYVE, RhoGEF and PH domain containing 5 NR2C2 3p25 nuclear receptor subfamily 2, group C, member 2 MRPS25 3p25 mitochondrial ribosomal protein S25 ZFYVE20 3p25.1 zinc finger, FYVE domain containing 20 LOC344875 3p25.1 similar to RIKEN cDNA E330026B02 CAPN7 3p24 calpain 7 SH3BP5 1q43 SH3-domain binding protein 5 (BTK-associated) LOC389097 3 similar to Nonhistone chromosomal protein HMG-17 (High-mobility group nucleosome binding domain 2) MGC24132 3p25.1 hypothetical protein MGC24132 EAF1 3q25.1 ELL associated factor 1 COLQ 3p24.2 collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase HPCL2 3p25.1 2-hydroxyphytanoyl-CoA lyase BTD 3p25 biotinidase KIAA0379 3p25.2-p24.2 biotinidase LOC131961 3p25.1 similar to inosine monophosphate dehydrogenase 1 isoform a; sWSS2608 GALNT7 4q31.1 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) MGC15763 3p25-p24 hypothetical protein BC008322 RAFTLIN 3p25.1 raft-linking protein DAZL 3p24 deleted in azoospermia-like PLCL2 3p24.3 phospholipase C-like 2 TBC1D5 3p24.3 TBC1 domain family, member 5
    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