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Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant III, mRNA.


RefSeq Accession Definition Services Price Order
NM_080539 Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant III, mRNA. ORF Sequence $367.14
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RefSeq Version NM_080539.3, 145701008
Length 2905 bp
Structure linear
Update Date 17-APR-2013
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, Jul 2008].


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
Misc Feature(1)97..99
Misc Feature(2)508..696
Misc Feature(3)1141..>1215
Misc Feature(4)<1147..1224
Exon (1)1..232
Gene:COLQ
Gene Synonym:EAD
Exon (2)233..345
Gene:COLQ
Gene Synonym:EAD
Exon (3)346..390
Gene:COLQ
Gene Synonym:EAD
Exon (4)391..417
Gene:COLQ
Gene Synonym:EAD
Exon (5)418..489
Gene:COLQ
Gene Synonym:EAD
Exon (6)490..552
Gene:COLQ
Gene Synonym:EAD
Exon (7)553..579
Gene:COLQ
Gene Synonym:EAD
Exon (8)580..624
Gene:COLQ
Gene Synonym:EAD
Exon (9)625..660
Gene:COLQ
Gene Synonym:EAD
Exon (10)661..741
Gene:COLQ
Gene Synonym:EAD
Exon (11)742..838
Gene:COLQ
Gene Synonym:EAD
Exon (12)839..978
Gene:COLQ
Gene Synonym:EAD
Exon (13)979..1098
Gene:COLQ
Gene Synonym:EAD
Exon (14)1099..1219
Gene:COLQ
Gene Synonym:EAD
Exon (15)1220..1322
Gene:COLQ
Gene Synonym:EAD
Exon (16)1323..2903
Gene:COLQ
Gene Synonym:EAD
Translation MVVLNPMTLGIYLQLFFLSIVSQPTFINSVLPISAALPSLDQKKRGGHKACCLLTPPPPP LFPPPFFRGGRSPGPPGLPGKTGPKGEKGELGRPGRKGRPGPPGVPGMPGPIGWPGPEGP RGEKGDLGMMGLPGSRGPMGSKGYPGSRGEKGSRGEKGDLGPKGEKGFPGFPGMLGQKGE MGPKGEPGIAGHRGPTGRPGKRGKQGQKGDSGVMGPPGKPGPSGQPGRPGPPGPPPAGQL IMGPKGERGFPGPPGRCLCGPTMNVNNPSYGESVYGPSSPRVPVIFVVNNQEELERLNTQ NAIAFRRDQRSLYFKDSLGWLPIQLTPFYPVDYTADQHGTCGDGLLQPGEECDDGNSDVG DDCIRCHRAYCGDGHRHEGVEDCDGSDFGYLTCETYLPGSYGDLQCTQYCYIDSTPCRYF T
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Position Chain Variation Link
complement(4..5)-dbSNP:
complement(4..5)-, gtdbSNP:199925079
complement(4)-t, cdbSNP:201450724
complement(6)-t, cdbSNP:113510832
complement(12..13)-, tgdbSNP:10662780
complement(20..21)-, gtdbSNP:72001214
complement(22..23)-, cadbSNP:3836381
complement(31)-g, adbSNP:151131743
complement(81)-t, cdbSNP:73033051
complement(149)-g, cdbSNP:189427175
complement(187)-t, cdbSNP:142115188
complement(198)-t, cdbSNP:111339593
complement(214)-t, cdbSNP:201234648
complement(243)-dbSNP:
complement(243)-t, gdbSNP:138891500
complement(263)-c, adbSNP:191657758
complement(317)-g, adbSNP:188737921
complement(403)-dbSNP:
complement(403)-g, c, adbSNP:143766249
complement(404)-t, cdbSNP:201856842
complement(415)-t, cdbSNP:142980906
complement(475)-dbSNP:
complement(475)-t, gdbSNP:114544830
complement(530)-dbSNP:
complement(530)-g, cdbSNP:104893734
complement(546)-g, adbSNP:113843907
complement(577)-dbSNP:
complement(577)-t, cdbSNP:144705312
complement(584)-dbSNP:
complement(584)-g, cdbSNP:201850242
complement(585)-g, adbSNP:149370622
complement(607)-c, adbSNP:142790233
complement(645)-dbSNP:
complement(645)-t, gdbSNP:138830715
complement(664)-dbSNP:
complement(664)-t, gdbSNP:104893733
complement(678)-t, cdbSNP:112673051
complement(698)-g, cdbSNP:143464217
complement(731)-t, cdbSNP:200770910
complement(737)-t, cdbSNP:79655731
complement(742)-dbSNP:
complement(742)-t, gdbSNP:104893735
complement(761)-g, cdbSNP:146687198
complement(773)-g, adbSNP:200479277
complement(809)-t, cdbSNP:201158622
complement(812)-g, adbSNP:146619514
complement(813)-t, cdbSNP:150061580
complement(859)-dbSNP:
complement(859)-t, cdbSNP:114896510
complement(868)-t, adbSNP:121908922
complement(880)-t, cdbSNP:200403785
complement(946)-t, cdbSNP:184245561
complement(950)-t, cdbSNP:200232229
complement(958)-t, cdbSNP:6782980
complement(961)-t, adbSNP:143918191
complement(967)-t, cdbSNP:121908924
complement(994)-dbSNP:
complement(994)-t, gdbSNP:201036462
complement(1002)-t, cdbSNP:113488563
complement(1024)-g, cdbSNP:113708721
complement(1042)-g, adbSNP:138818971
complement(1048)-t, cdbSNP:184944796
complement(1055)-t, cdbSNP:149532541
complement(1105)-dbSNP:
complement(1105)-g, adbSNP:116828761
complement(1112)-t, cdbSNP:150382480
complement(1132)-t, cdbSNP:116373583
complement(1141)-t, cdbSNP:202019416
complement(1177)-g, cdbSNP:140955551
complement(1179)-t, g, cdbSNP:116503231
complement(1188)-g, adbSNP:149852377
complement(1218)-g, adbSNP:199930637
complement(1229)-dbSNP:
complement(1229)-t, cdbSNP:140670616
complement(1252)-g, adbSNP:139574075
complement(1272)-t, cdbSNP:55866379
complement(1305)-g, adbSNP:185829251
complement(1306)-t, cdbSNP:141721093
complement(1313)-c, adbSNP:121908923
complement(1362)-dbSNP:
complement(1362)-t, gdbSNP:73818504
complement(1390)-g, adbSNP:188841362
complement(1398)-t, cdbSNP:144621591
complement(1409)-t, cdbSNP:142437859
complement(1516)-t, adbSNP:184812820
complement(1602..1603)-, ttdbSNP:138019222
complement(1690)-g, adbSNP:144067075
complement(1736)-t, cdbSNP:2278961
complement(1757)-t, adbSNP:2278962
complement(1884)-t, cdbSNP:116231717
complement(1907)-g, adbSNP:10154896
complement(1947)-c, adbSNP:116450586
complement(1987..1988)-, cdbSNP:149076823
complement(2296)-g, adbSNP:181965246
complement(2386)-t, cdbSNP:77521642
complement(2393)-g, adbSNP:3846128
complement(2672)-g, adbSNP:146270961
complement(2739)-g, adbSNP:189542753
complement(2787)-t, cdbSNP:3274
complement(2799)-t, cdbSNP:113737086
Gene SymbolCOLQ
Gene SynonymEAD
Chromosome3
Locus Map3p25
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_005677 Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA. Full Length $1052.45
ORF Sequence $396.72
NM_080538 Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant II, mRNA. Full Length $1097.60
ORF Sequence $388.02
NM_080539 Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant III, mRNA. Full Length $842.45
ORF Sequence $367.14
Title Recurrent COLQ mutation in congenital myasthenic syndrome .
Author Guven,A., Demirci,M. and Anlar,B.
Journal Pediatr. Neurol. 46 (4), 253-256 (2012)
Title Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations .
Author Wargon,I., Richard,P., Kuntzer,T., Sternberg,D., Nafissi,S., Gaudon,K., Lebail,A., Bauche,S., Hantai,D., Fournier,E., Eymard,B. and Stojkovic,T.
Journal Neuromuscul. Disord. 22 (4), 318-324 (2012)
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 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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