COLQ

From Wikipedia, the free encyclopedia

Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase

Identifiers

External IDs

OMIM: 603033 MGI: 1338761 HomoloGene: 10437

Gene ontology
Cellular Component:	• basal lamina • extracellular space • cytoplasm • synapse
Biological Process:	• acetylcholine catabolic process in synaptic cleft • phosphate transport • asymmetric protein localization • neurotransmitter catabolic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_005677 (mRNA)
NP_005668 (protein)

XM_356716 (mRNA)
XP_356716 (protein)

Location

Chr 3: 15.47 - 15.54 Mb

Chr 14: 30.35 - 30.38 Mb

Pubmed search

[1]

[2]

Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase, also known as COLQ, is a human gene.^[1]

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. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene.^[1]

[edit] References

^ ^a ^b Entrez Gene: COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase.

[edit] Further reading

Ohno K, Brengman J, Tsujino A, Engel AG (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. PMID 9689136.
Donger C, Krejci E, Serradell AP, et al. (1998). "Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic).". Am. J. Hum. Genet. 63 (4): 967-75. PMID 9758617.
Ohno K, Brengman JM, Felice KJ, et al. (1999). "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?". Am. J. Hum. Genet. 65 (3): 635-44. PMID 10441569.
Altamirano CV, Lockridge O (1999). "Conserved aromatic residues of the C-terminus of human butyrylcholinesterase mediate the association of tetramers.". Biochemistry 38 (40): 13414-22. PMID 10529218.
Ohno K, Engel AG, Brengman JM, et al. (2000). "The spectrum of mutations causing end-plate acetylcholinesterase deficiency.". Ann. Neurol. 47 (2): 162-70. PMID 10665486.
Deprez P, Inestrosa NC (2000). "Molecular modeling of the collagen-like tail of asymmetric acetylcholinesterase.". Protein Eng. 13 (1): 27-34. PMID 10679527.
Shapira YA, Sadeh ME, Bergtraum MP, et al. (2002). "Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.". Neurology 58 (4): 603-9. PMID 11865139.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932.
Ishigaki K, Nicolle D, Krejci E, et al. (2003). "Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.". Neuromuscul. Disord. 13 (3): 236-44. PMID 12609505.
Hillman RT, Green RE, Brenner SE (2005). "An unappreciated role for RNA surveillance.". Genome Biol. 5 (2): R8. doi:10.1186/gb-2004-5-2-r8. PMID 14759258.
Cartaud A, Strochlic L, Guerra M, et al. (2004). "MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction.". J. Cell Biol. 165 (4): 505-15. doi:10.1083/jcb.200307164. PMID 15159418.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334.
Dvir H, Harel M, Bon S, et al. (2005). "The synaptic acetylcholinesterase tetramer assembles around a polyproline II helix.". EMBO J. 23 (22): 4394-405. doi:10.1038/sj.emboj.7600425. PMID 15526038.
Ting AK, Siow NL, Kong LW, Tsim KW (2006). "Transcriptional regulation of acetylcholinesterase-associated collagen ColQ in fast- and slow-twitch muscle fibers.". Chem. Biol. Interact. 157-158: 63-70. doi:10.1016/j.cbi.2005.10.009. PMID 16256971.
Schreiner F, Hoppenz M, Klaeren R, et al. (2007). "Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives.". Neuromuscul. Disord. 17 (3): 262-5. doi:10.1016/j.nmd.2006.11.010. PMID 17300939.