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COLQ

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COLQ
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCOLQ, EAD, CMS5, collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase, collagen like tail subunit of asymmetric acetylcholinesterase
External IDsOMIM: 603033; MGI: 1338761; HomoloGene: 10437; GeneCards: COLQ; OMA:COLQ - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_009937

RefSeq (protein)

NP_005668
NP_536799
NP_536800

NP_034067

Location (UCSC)Chr 3: 15.45 – 15.52 MbChr 14: 31.25 – 31.31 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

Function

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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

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000206561Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000057606Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Ohno K, Brengman J, Tsujino A, Engel AG (Sep 1998). "Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme". Proc Natl Acad Sci U S A. 95 (16): 9654–9. Bibcode:1998PNAS...95.9654O. doi:10.1073/pnas.95.16.9654. PMC 21394. PMID 9689136.
  6. ^ a b c "Entrez Gene: COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase".
  7. ^ Finsterer J (February 2019). "Congenital myasthenic syndromes". Orphanet Journal of Rare Diseases. 14 (1): 57. doi:10.1186/s13023-019-1025-5. PMC 6390566. PMID 30808424.
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Further reading

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