COLQ

Acetylcholinesterase collagenic tail peptide also known as AChE Q subunit, acetylcholinesterase-associated collagen, or ColQ is the collagen-tail subunit of acetylcholinesterase found in the neuromuscular junction. In humans it is encoded by the COLQ gene.^[5][6]

COLQ
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1VZJ
Identifiers
Aliases	COLQ, EAD, CMS5, collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase, collagen like tail subunit of asymmetric acetylcholinesterase
External IDs	OMIM: 603033; MGI: 1338761; HomoloGene: 10437; GeneCards: COLQ; OMA:COLQ - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p25.1 Start 15,450,133 bp[1] End 15,521,751 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14|14 B Start 31,245,039 bp[2] End 31,313,300 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube muscle of thigh granulocyte Skeletal muscle tissue of rectus abdominis testicle apex of heart right auricle of heart sural nerve cerebellar hemisphere right hemisphere of cerebellum Top expressed in thymus pons medulla oblongata spinal cord primary motor cortex inferior colliculi muscle of thigh choroid plexus heart spleen More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding extracellular matrix structural constituent heparin binding Cellular component collagen neuromuscular junction synapse synaptic cleft extracellular space plasma membrane cell junction basement membrane extracellular matrix collagen-containing extracellular matrix Biological process establishment of protein localization to membrane regulation of synaptic assembly at neuromuscular junction acetylcholine catabolic process in synaptic cleft skeletal muscle acetylcholine-gated channel clustering neurotransmitter catabolic process extracellular matrix organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8292 382864 Ensembl ENSG00000206561 ENSMUSG00000057606 UniProt Q9Y215 O35348 RefSeq (mRNA) NM_080544 NM_005677 NM_080538 NM_080539 NM_080540 NM_080541 NM_080542 NM_080543 NM_009937 RefSeq (protein) NP_005668 NP_536799 NP_536800 NP_034067 Location (UCSC) Chr 3: 15.45 – 15.52 Mb Chr 14: 31.25 – 31.31 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Multiple transcript variants encoding different isoforms have been found for this gene.^[6]

Clinical significance

Mutations in this gene are associated with endplate acetylcholinesterase deficiency^[6] and one of the causes of the neuromuscular disease, congenital myasthenia gravis.^[7]