Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant III, mRNA.
| RefSeq Version | NM_080539.3, 145701008 |
| Length | 2905 bp |
| Structure | linear |
| Update Date | 11-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant III, mRNA. |
| Product | acetylcholinesterase collagenic tail peptide isoform III precursor |
| Comment | Summary: 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. [provided by RefSeq]. Transcript Variant: This variant (III) is the only variant missing exon 3. Exon 3 encodes the proline-rich attachment domain; as a result, isoform III is the only isoform lacking this domain. |
| RefSeq | NP_536800.2 |
| CDS | 127..1392 | Exon (1) | 1..232 | Exon (2) | 1..232 | Exon (3) | 233..345 | Exon (4) | 346..390 | Exon (5) | 391..417 | Exon (6) | 418..489 | Exon (7) | 490..552 | Exon (8) | 553..579 | Exon (9) | 580..624 | Exon (10) | 625..660 | Exon (11) | 661..741 | Exon (12) | 742..838 | Exon (13) | 839..978 | Exon (14) | 979..1098 | Exon (15) | 1099..1219 | Exon (16) | 1220..1322 | Exon (17) | 1323..2903 |
| Translation | MVVLNPMTLGIYLQLFFLSIVSQPTFINSVLPISAALPSLDQKKRGGHKACCLLTPPPPP
LFPPPFFRGGRSPGPPGLPGKTGPKGEKGELGRPGRKGRPGPPGVPGMPGPIGWPGPEGP
RGEKGDLGMMGLPGSRGPMGSKGYPGSRGEKGSRGEKGDLGPKGEKGFPGFPGMLGQKGE
MGPKGEPGIAGHRGPTGRPGKRGKQGQKGDSGVMGPPGKPGPSGQPGRPGPPGPPPAGQL
IMGPKGERGFPGPPGRCLCGPTMNVNNPSYGESVYGPSSPRVPVIFVVNNQEELERLNTQ
NAIAFRRDQRSLYFKDSLGWLPIQLTPFYPVDYTADQHGTCGDGLLQPGEECDDGNSDVG
DDCIRCHRAYCGDGHRHEGVEDCDGSDFGYLTCETYLPGSYGDLQCTQYCYIDSTPCRYF
T
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| Position | Chain | Variation | Link |
| complement(6) | - | t, c | dbSNP:113510832 |
| complement(10..11) | - | , gt | dbSNP:72001214 |
| complement(12..13) | - | , tg | dbSNP:10662780 |
| 22..23 | + | , ca | dbSNP:3836381 |
| complement(81) | - | t, c | dbSNP:73033051 |
| complement(198) | - | t, c | dbSNP:111339593 |
| complement(475) | - | t, g | dbSNP:114544830 |
| 530 | + | c, g | dbSNP:104893734 |
| complement(546) | - | g, a | dbSNP:113843907 |
| 664 | + | g, t | dbSNP:104893733 |
| complement(678) | - | t, c | dbSNP:112673051 |
| complement(737) | - | t, c | dbSNP:79655731 |
| 742 | + | g, t | dbSNP:104893735 |
| complement(859) | - | t, c | dbSNP:114896510 |
| 868 | + | a, t | dbSNP:121908922 |
| complement(958) | - | t, c | dbSNP:6782980 |
| 967 | + | c, t | dbSNP:121908924 |
| complement(1002) | - | t, c | dbSNP:113488563 |
| complement(1024) | - | g, c | dbSNP:113708721 |
| complement(1105) | - | g, a | dbSNP:116828761 |
| complement(1132) | - | t, c | dbSNP:116373583 |
| complement(1179) | - | t, c | dbSNP:116503231 |
| 1272 | + | c, t | dbSNP:55866379 |
| 1313 | + | a, c | dbSNP:121908923 |
| complement(1362) | - | t, g | dbSNP:73818504 |
| 1736 | + | c, t | dbSNP:2278961 |
| 1757 | + | a, t | dbSNP:2278962 |
| complement(1884) | - | t, c | dbSNP:116231717 |
| complement(1907) | - | g, a | dbSNP:10154896 |
| complement(1947) | - | c, a | dbSNP:116450586 |
| complement(1991) | - | t, g | dbSNP:74854291 |
| complement(2386) | - | t, c | dbSNP:77521642 |
| 2393 | + | a, g | dbSNP:3846128 |
| 2787 | + | c, t | dbSNP:3274 |
| complement(2799) | - | t, c | dbSNP:113737086 |
| Gene Symbol | COLQ |
| Gene Synonym | EAD; FLJ55041 |
| Chromosome | 3 |
| Locus Map | 3p25 |
| All Transcripts | NM_080539 , NM_005677 , NM_080538 |
| Title | Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations . |
| Author | Yeung,W.L., Lam,C.W. and Ng,P.C. |
| Journal | Dev Med Child Neurol 52 (10), E243-E244 (2010) |
| Title | Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes . |
| Author | Mihaylova,V., Muller,J.S., Vilchez,J.J., Salih,M.A., Kabiraj,M.M., D'Amico,A., Bertini,E., Wolfle,J., Schreiner,F., Kurlemann,G., Rasic,V.M., Siskova,D., Colomer,J., Herczegfalvi,A., Fabriciova,K., Weschke,B., Scola,R., Hoellen,F., Schara,U., Abicht,A. and Lochmuller,H. |
| Journal | Brain 131 (PT 3), 747-759 (2008) |
| Title | Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives . |
| Author | Schreiner,F., Hoppenz,M., Klaeren,R., Reimann,J. and Woelfle,J. |
| Journal | Neuromuscul. Disord. 17 (3), 262-265 (2007) |
| Title | Transcriptional regulation of acetylcholinesterase-associated collagen ColQ in fast- and slow-twitch muscle fibers . |
| Author | Ting,A.K., Siow,N.L., Kong,L.W. and Tsim,K.W. |
| Journal | Chem. Biol. Interact. 157-158, 63-70 (2005) |
| Title | The synaptic acetylcholinesterase tetramer assembles around a polyproline II helix . |
| Author | Dvir,H., Harel,M., Bon,S., Liu,W.Q., Vidal,M., Garbay,C., Sussman,J.L., Massoulie,J. and Silman,I. |
| Journal | EMBO J. 23 (22), 4394-4405 (2004) |
| Title | Molecular modeling of the collagen-like tail of asymmetric acetylcholinesterase . |
| Author | Deprez,P. and Inestrosa,N.C. |
| Journal | Protein Eng. 13 (1), 27-34 (2000) |
| Title | Conserved aromatic residues of the C-terminus of human butyrylcholinesterase mediate the association of tetramers . |
| Author | Altamirano,C.V. and Lockridge,O. |
| Journal | Biochemistry 38 (40), 13414-13422 (1999) |
| 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 . |
| Author | Ohno,K., Brengman,J.M., Felice,K.J., Cornblath,D.R. and Engel,A.G. |
| Journal | Am. J. Hum. Genet. 65 (3), 635-644 (1999) |
| Title | Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic) . |
| Author | Donger,C., Krejci,E., Serradell,A.P., Eymard,B., Bon,S., Nicole,S., Chateau,D., Gary,F., Fardeau,M., Massoulie,J. and Guicheney,P. |
| Journal | Am. J. Hum. Genet. 63 (4), 967-975 (1998) |
| Title | Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme . |
| Author | Ohno,K., Brengman,J., Tsujino,A. and Engel,A.G. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 95 (16), 9654-9659 (1998) |
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