View source for COLQ

{{Short description|Protein-coding gene in humans}}
{{Infobox_gene}}
'''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]].<ref name="pmid9689136">{{cite journal |vauthors=Ohno K, Brengman J, Tsujino A, Engel AG | title = Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme | journal = Proc Natl Acad Sci U S A | volume = 95 | issue = 16 | pages = 9654–9 |date=Sep 1998 | pmid = 9689136 | pmc = 21394 | doi =10.1073/pnas.95.16.9654  | bibcode = 1998PNAS...95.9654O | doi-access = free }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8292}}</ref>
== 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.<ref name="entrez" />
== Clinical significance ==
Mutations in this gene are associated with endplate acetylcholinesterase deficiency<ref name="entrez"/> and one of the causes of the neuromuscular disease, [[congenital myasthenia gravis]].<ref name="pmid30808424">{{cite journal | vauthors = Finsterer J | title = Congenital myasthenic syndromes | journal = Orphanet Journal of Rare Diseases | volume = 14 | issue = 1 | pages = 57 | date = February 2019 | pmid = 30808424 | pmc = 6390566 | doi = 10.1186/s13023-019-1025-5 | doi-access = free | url = }}</ref>
==References==
{{reflist}}
==External links==
* {{UCSC gene info|COLQ}}
==Further reading==
{{refbegin | 2}}
*{{cite journal  | author=Donger C |title=Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic) |journal=Am. J. Hum. Genet. |volume=63 |issue= 4 |pages= 967–75 |year= 1998 |pmid= 9758617 |doi=10.1086/302059  | pmc=1377491  |name-list-style=vanc| author2=Krejci E  | author3=Serradell AP  | display-authors=3  | last4=Eymard  | first4=Bruno  | last5=Bon  | first5=Suzanne  | last6=Nicole  | first6=Sophie  | last7=Chateau  | first7=Danielle  | last8=Gary  | first8=Françoise  | last9=Fardeau  | first9=Michel  }}
*{{cite journal  | author=Ohno K |title=Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing? |journal=Am. J. Hum. Genet. |volume=65 |issue= 3 |pages= 635–44 |year= 1999 |pmid= 10441569 |doi=10.1086/302551  | pmc=1377969  |name-list-style=vanc| author2=Brengman JM  | author3=Felice KJ  | display-authors=3  | last4=Cornblath  | first4=D  | last5=Engel  | first5=A  }}
*{{cite journal  |vauthors=Altamirano CV, Lockridge O |title=Conserved aromatic residues of the C-terminus of human butyrylcholinesterase mediate the association of tetramers |journal=Biochemistry |volume=38 |issue= 40 |pages= 13414–22 |year= 1999 |pmid= 10529218 |doi=  10.1021/bi991475+}}
*{{cite journal  | author=Ohno K |title=The spectrum of mutations causing end-plate acetylcholinesterase deficiency |journal=Ann. Neurol. |volume=47 |issue= 2 |pages= 162–70 |year= 2000 |pmid= 10665486 |doi=10.1002/1531-8249(200002)47:2<162::AID-ANA5>3.0.CO;2-Q  |name-list-style=vanc| author2=Engel AG  | author3=Brengman JM  | display-authors=3  | last4=Shen  | first4=Xin-Ming  | last5=Heidenreich  | first5=Fedor  | last6=Vincent  | first6=Angela  | last7=Milone  | first7=Margherita  | last8=Tan  | first8=Ersin  | last9=Demirci  | first9=Mehmet  |s2cid=9178923 }}
*{{cite journal  |vauthors=Deprez P, Inestrosa NC |title=Molecular modeling of the collagen-like tail of asymmetric acetylcholinesterase |journal=Protein Eng. |volume=13 |issue= 1 |pages= 27–34 |year= 2000 |pmid= 10679527 |doi=10.1093/protein/13.1.27  |hdl=10533/172149 |hdl-access=free }}
*{{cite journal  | author=Shapira YA |title=Three novel COLQ mutations and variation of phenotypic expressivity due to G240X |journal=Neurology |volume=58 |issue= 4 |pages= 603–9 |year= 2002 |pmid= 11865139 |doi=  10.1212/wnl.58.4.603|name-list-style=vanc| author2=Sadeh ME  | author3=Bergtraum MP  | display-authors=3  | last4=Tsujino  | first4=A  | last5=Ohno  | first5=K  | last6=Shen  | first6=XM  | last7=Brengman  | first7=J  | last8=Edwardson  | first8=S  | last9=Matoth  | first9=I  |s2cid=43142424 }}
*{{cite journal  | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241  |name-list-style=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD |bibcode=2002PNAS...9916899M |doi-access=free }}
*{{cite journal  | author=Ishigaki K |title=Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency |journal=Neuromuscul. Disord. |volume=13 |issue= 3 |pages= 236–44 |year= 2003 |pmid= 12609505 |doi=10.1016/s0960-8966(02)00243-2  |name-list-style=vanc| author2=Nicolle D  | author3=Krejci E  | display-authors=3  | last4=Leroy  | first4=Jean-Paul  | last5=Koenig  | first5=Jeanine  | last6=Fardeau  | first6=Michel  | last7=Eymard  | first7=Bruno  | last8=Hantaı̈  | first8=Daniel  |s2cid=19202945 }}
*{{cite journal  |vauthors=Hillman RT, Green RE, Brenner SE |title=An unappreciated role for RNA surveillance |journal=Genome Biol. |volume=5 |issue= 2 |pages= R8 |year= 2005 |pmid= 14759258 |doi= 10.1186/gb-2004-5-2-r8  | pmc=395752 |doi-access=free }}
*{{cite journal  | author=Cartaud A |title=MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction |journal=J. Cell Biol. |volume=165 |issue= 4 |pages= 505–15 |year= 2004 |pmid= 15159418 |doi= 10.1083/jcb.200307164  | pmc=2172359  |name-list-style=vanc| author2=Strochlic L  | author3=Guerra M  | display-authors=3  | last4=Blanchard  | first4=B  | last5=Lambergeon  | first5=M  | last6=Krejci  | first6=E  | last7=Cartaud  | first7=J  | last8=Legay  | first8=C }}
*{{cite journal  | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928  |name-list-style=vanc| author2=Wagner L  | author3=Feingold EA  | display-authors=3  | last4=Shenmen  | first4=CM  | last5=Grouse  | first5=LH  | last6=Schuler  | first6=G  | last7=Klein  | first7=SL  | last8=Old  | first8=S  | last9=Rasooly  | first9=R }}
*{{cite journal  | author=Dvir H |title=The synaptic acetylcholinesterase tetramer assembles around a polyproline II helix |journal=EMBO J. |volume=23 |issue= 22 |pages= 4394–405 |year= 2005 |pmid= 15526038 |doi= 10.1038/sj.emboj.7600425  | pmc=526459  |name-list-style=vanc| author2=Harel M  | author3=Bon S  | display-authors=3  | last4=Liu  | first4=Wang-Qing  | last5=Vidal  | first5=Michel  | last6=Garbay  | first6=Christiane  | last7=Sussman  | first7=Joel L  | last8=Massoulié  | first8=Jean  | last9=Silman  | first9=Israel }}
*{{cite journal  |vauthors=Ting AK, Siow NL, Kong LW, Tsim KW |title=Transcriptional regulation of acetylcholinesterase-associated collagen ColQ in fast- and slow-twitch muscle fibers |journal=Chem. Biol. Interact. |volume=157-158 |pages= 63–70 |year= 2006 |pmid= 16256971 |doi= 10.1016/j.cbi.2005.10.009 }}
*{{cite journal  | author=Schreiner F |title=Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives |journal=Neuromuscul. Disord. |volume=17 |issue= 3 |pages= 262–5 |year= 2007 |pmid= 17300939 |doi= 10.1016/j.nmd.2006.11.010  |name-list-style=vanc| author2=Hoppenz M  | author3=Klaeren R  | display-authors=3  | last4=Reimann  | first4=Jens  | last5=Woelfle  | first5=Joachim |s2cid=30720410 }}
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