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COLQ cDNA ORF clone, Homo sapiens (human)

Gene Symbol COLQ
Entrez Gene ID 8292
Full Name collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
Synonyms CMS5, EAD
General protein information
Preferred Names
acetylcholinesterase collagenic tail peptide
Names
acetylcholinesterase collagenic tail peptide
AChE Q subunit
acetylcholinesterase-associated collagen
collagenic tail of endplate acetylcholinesterase
single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

3

3p25

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]. lac of sum
Disorder MIM:

603033

Disorder Html: Endplate acetylcholinesterase deficiency, 603034 (3)

mRNA and Protein(s)

mRNA Protein Name
NM_080539 NP_536800 acetylcholinesterase collagenic tail peptide isoform III precursor
NM_005677 NP_005668 acetylcholinesterase collagenic tail peptide isoform I precursor
NM_080538 NP_536799 acetylcholinesterase collagenic tail peptide isoform II precursor


Homo sapiens (human) COLQ NP_005668.2
Pan troglodytes (chimpanzee) COLQ XP_001159864.1
Macaca mulatta (Rhesus monkey) COLQ XP_001083025.2
Canis lupus familiaris (dog) COLQ XP_863371.1
Bos taurus (cattle) COLQ NP_001030374.2
Mus musculus (house mouse) Colq NP_034067.2
Rattus norvegicus (Norway rat) Colq NP_062147.1
Gallus gallus (chicken) COLQ XP_001235720.2
Xenopus (Silurana) tropicalis (western clawed frog) colq XP_004915447.1


GeneRIFs: Gene References Into Functions What's a GeneRIF?

The following COLQ gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the COLQ cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID RefSeq Accession Definition **Vector *Turnaround time Price Select
OHu16271 NM_080539 Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant III, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $244.30
$349.00
OHu19054 NM_005677 Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 5-7 $265.30
$379.00
OHu16232 NM_080538 Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant II, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $265.30
$379.00
Next-day Shipping ORF Clones ( in default vector with tag)
1 Clone 30% OFF
2-4 Clone 40% OFF
5 or more Clone 50% OFF
All Other ORF Clones
30% OFF

*Business Day

** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu16271
Clone ID Related Accession (Same CDS sequence) NM_080539
Accession Version NM_080539.3 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1266bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 07-MAY-2015
Organism Homo sapiens (human)
Product acetylcholinesterase collagenic tail peptide isoform III precursor
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF057036.1, BX500613.1, AK128401.1 and AI554171.1. On Apr 25, 2007 this sequence version replaced gi:116805305. 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: full length.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
ATGGTTGTCC TGAATCCAAT GACTTTGGGA ATTTATCTTC AGCTTTTCTT CCTCTCTATC 
GTGTCTCAGC CGACTTTCAT CAACAGCGTT CTTCCAATCT CAGCAGCCCT TCCCAGCCTG
GATCAGAAGA AGCGTGGTGG CCACAAAGCA TGCTGCCTGC TGACGCCTCC TCCACCACCA
CTGTTCCCAC CACCATTCTT CAGAGGTGGC CGAAGTCCGG GTCCACCGGG GCTTCCTGGC
AAGACAGGAC CAAAGGGAGA AAAGGGGGAG CTTGGCCGAC CAGGAAGGAA GGGTAGACCT
GGCCCCCCAG GTGTTCCTGG CATGCCTGGG CCCATCGGTT GGCCAGGCCC TGAAGGACCC
AGGGGTGAAA AAGGTGACCT GGGTATGATG GGCTTGCCAG GGTCAAGAGG ACCAATGGGC
TCCAAGGGCT ACCCTGGATC CAGAGGGGAA AAGGGATCCA GAGGTGAAAA GGGTGACCTG
GGTCCCAAAG GAGAAAAGGG TTTCCCAGGA TTTCCTGGAA TGTTGGGGCA GAAAGGTGAA
ATGGGTCCAA AAGGTGAACC TGGGATAGCA GGACACCGAG GACCCACAGG AAGACCAGGA
AAACGAGGCA AGCAGGGACA GAAAGGGGAT AGTGGAGTTA TGGGCCCACC AGGCAAGCCT
GGGCCTTCTG GTCAACCTGG CCGTCCGGGG CCCCCAGGCC CCCCACCTGC AGGACAACTT
ATAATGGGAC CCAAAGGGGA AAGAGGATTT CCCGGGCCTC CAGGAAGATG TCTTTGTGGA
CCCACTATGA ATGTGAATAA CCCTTCCTAC GGGGAATCTG TGTATGGGCC CAGTTCCCCG
CGAGTTCCTG TGATTTTTGT GGTCAACAAC CAGGAGGAGC TTGAGAGGCT GAACACCCAA
AACGCCATTG CCTTCCGCAG AGACCAGAGA TCTCTGTACT TCAAGGACAG CCTTGGCTGG
CTCCCCATCC AGCTGACCCC TTTCTACCCT GTGGATTACA CTGCAGACCA GCACGGCACC
TGTGGGGATG GGCTCCTGCA GCCTGGGGAG GAGTGTGACG ACGGTAACAG CGATGTGGGT
GACGACTGCA TCCGCTGTCA CCGTGCCTAC TGTGGAGATG GTCACCGGCA TGAGGGTGTG
GAGGACTGTG ACGGCTCTGA CTTTGGCTAC CTGACATGCG AGACCTATCT CCCTGGGTCA
TATGGAGACC TGCAATGCAC CCAGTACTGC TACATCGACT CCACGCCCTG CCGCTACTTC
ACCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_536800.2
CDS127..1392
Misc Feature(1)97..99(+)
Misc Feature(2)340..564(+)
Misc Feature(3)535..711(+)
Misc Feature(4)1141..>1215(+)
Misc Feature(5)1147..1215(+)
Exon (1)1..232
Gene:COLQ
Gene Synonym:
Exon (2)233..345
Gene:COLQ
Gene Synonym:
Exon (3)346..390
Gene:COLQ
Gene Synonym:
Exon (4)391..417
Gene:COLQ
Gene Synonym:
Exon (5)418..489
Gene:COLQ
Gene Synonym:
Exon (6)490..552
Gene:COLQ
Gene Synonym:
Exon (7)553..579
Gene:COLQ
Gene Synonym:
Exon (8)580..624
Gene:COLQ
Gene Synonym:
Exon (9)625..660
Gene:COLQ
Gene Synonym:
Exon (10)661..741
Gene:COLQ
Gene Synonym:
Exon (11)742..838
Gene:COLQ
Gene Synonym:
Exon (12)839..978
Gene:COLQ
Gene Synonym:
Exon (13)979..1098
Gene:COLQ
Gene Synonym:
Exon (14)1099..1219
Gene:COLQ
Gene Synonym:
Exon (15)1220..1322
Gene:COLQ
Gene Synonym:
Exon (16)1323..2903
Gene:COLQ
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_080539
Organism Homo sapiens (human)
Definition Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant III, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_080539

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
ATGGTTGTCC TGAATCCAAT GACTTTGGGA ATTTATCTTC AGCTTTTCTT CCTCTCTATC 
GTGTCTCAGC CGACTTTCAT CAACAGCGTT CTTCCAATCT CAGCAGCCCT TCCCAGCCTG
GATCAGAAGA AGCGTGGTGG CCACAAAGCA TGCTGCCTGC TGACGCCTCC TCCACCACCA
CTGTTCCCAC CACCATTCTT CAGAGGTGGC CGAAGTCCGG GTCCACCGGG GCTTCCTGGC
AAGACAGGAC CAAAGGGAGA AAAGGGGGAG CTTGGCCGAC CAGGAAGGAA GGGTAGACCT
GGCCCCCCAG GTGTTCCTGG CATGCCTGGG CCCATCGGTT GGCCAGGCCC TGAAGGACCC
AGGGGTGAAA AAGGTGACCT GGGTATGATG GGCTTGCCAG GGTCAAGAGG ACCAATGGGC
TCCAAGGGCT ACCCTGGATC CAGAGGGGAA AAGGGATCCA GAGGTGAAAA GGGTGACCTG
GGTCCCAAAG GAGAAAAGGG TTTCCCAGGA TTTCCTGGAA TGTTGGGGCA GAAAGGTGAA
ATGGGTCCAA AAGGTGAACC TGGGATAGCA GGACACCGAG GACCCACAGG AAGACCAGGA
AAACGAGGCA AGCAGGGACA GAAAGGGGAT AGTGGAGTTA TGGGCCCACC AGGCAAGCCT
GGGCCTTCTG GTCAACCTGG CCGTCCGGGG CCCCCAGGCC CCCCACCTGC AGGACAACTT
ATAATGGGAC CCAAAGGGGA AAGAGGATTT CCCGGGCCTC CAGGAAGATG TCTTTGTGGA
CCCACTATGA ATGTGAATAA CCCTTCCTAC GGGGAATCTG TGTATGGGCC CAGTTCCCCG
CGAGTTCCTG TGATTTTTGT GGTCAACAAC CAGGAGGAGC TTGAGAGGCT GAACACCCAA
AACGCCATTG CCTTCCGCAG AGACCAGAGA TCTCTGTACT TCAAGGACAG CCTTGGCTGG
CTCCCCATCC AGCTGACCCC TTTCTACCCT GTGGATTACA CTGCAGACCA GCACGGCACC
TGTGGGGATG GGCTCCTGCA GCCTGGGGAG GAGTGTGACG ACGGTAACAG CGATGTGGGT
GACGACTGCA TCCGCTGTCA CCGTGCCTAC TGTGGAGATG GTCACCGGCA TGAGGGTGTG
GAGGACTGTG ACGGCTCTGA CTTTGGCTAC CTGACATGCG AGACCTATCT CCCTGGGTCA
TATGGAGACC TGCAATGCAC CCAGTACTGC TACATCGACT CCACGCCCTG CCGCTACTTC
ACCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu19054
Clone ID Related Accession (Same CDS sequence) NM_005677
Accession Version NM_005677.3 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1368bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 07-MAY-2015
Organism Homo sapiens (human)
Product acetylcholinesterase collagenic tail peptide isoform I precursor
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF057036.1, AK128401.1 and AI554171.1. This sequence is a reference standard in the RefSeqGene project. On Oct 27, 2006 this sequence version replaced gi:18105015. Transcript Variant: This variant (I) encodes the longest protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF057036.1, AK289688.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: full length.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
ATGGTTGTCC TGAATCCAAT GACTTTGGGA ATTTATCTTC AGCTTTTCTT CCTCTCTATC 
GTGTCTCAGC CGACTTTCAT CAACAGCGTT CTTCCAATCT CAGCAGCCCT TCCCAGCCTG
GATCAGAAGA AGCGTGGTGG CCACAAAGCA TGCTGCCTGC TGACGCCTCC TCCACCACCA
CTGTTCCCAC CACCATTCTT CAGAGGTGGC CGAAGTCCGC TTCTCTCCCC AGACATGAAG
AATCTCATGC TGGAACTGGA GACCTCGCAG TCCCCGTGCA TGCAAGGCTC GCTAGGCTCC
CCTGGGCCTC CCGGCCCCCA GGGTCCACCG GGGCTTCCTG GCAAGACAGG ACCAAAGGGA
GAAAAGGGGG AGCTTGGCCG ACCAGGAAGG AAGGGTAGAC CTGGCCCCCC AGGTGTTCCT
GGCATGCCTG GGCCCATCGG TTGGCCAGGC CCTGAAGGAC CCAGGGGTGA AAAAGGTGAC
CTGGGTATGA TGGGCTTGCC AGGGTCAAGA GGACCAATGG GCTCCAAGGG CTACCCTGGA
TCCAGAGGGG AAAAGGGATC CAGAGGTGAA AAGGGTGACC TGGGTCCCAA AGGAGAAAAG
GGTTTCCCAG GATTTCCTGG AATGTTGGGG CAGAAAGGTG AAATGGGTCC AAAAGGTGAA
CCTGGGATAG CAGGACACCG AGGACCCACA GGAAGACCAG GAAAACGAGG CAAGCAGGGA
CAGAAAGGGG ATAGTGGAGT TATGGGCCCA CCAGGCAAGC CTGGGCCTTC TGGTCAACCT
GGCCGTCCGG GGCCCCCAGG CCCCCCACCT GCAGGACAAC TTATAATGGG ACCCAAAGGG
GAAAGAGGAT TTCCCGGGCC TCCAGGAAGA TGTCTTTGTG GACCCACTAT GAATGTGAAT
AACCCTTCCT ACGGGGAATC TGTGTATGGG CCCAGTTCCC CGCGAGTTCC TGTGATTTTT
GTGGTCAACA ACCAGGAGGA GCTTGAGAGG CTGAACACCC AAAACGCCAT TGCCTTCCGC
AGAGACCAGA GATCTCTGTA CTTCAAGGAC AGCCTTGGCT GGCTCCCCAT CCAGCTGACC
CCTTTCTACC CTGTGGATTA CACTGCAGAC CAGCACGGCA CCTGTGGGGA TGGGCTCCTG
CAGCCTGGGG AGGAGTGTGA CGACGGTAAC AGCGATGTGG GTGACGACTG CATCCGCTGT
CACCGTGCCT ACTGTGGAGA TGGTCACCGG CATGAGGGTG TGGAGGACTG TGACGGCTCT
GACTTTGGCT ACCTGACATG CGAGACCTAT CTCCCTGGGT CATATGGAGA CCTGCAATGC
ACCCAGTACT GCTACATCGA CTCCACGCCC TGCCGCTACT TCACCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_005668.2
CDS127..1494
Misc Feature(1)97..99(+)
Misc Feature(2)277..327(+)
Misc Feature(3)514..525(+)
Misc Feature(4)637..813(+)
Misc Feature(5)829..840(+)
Misc Feature(6)1243..>1317(+)
Misc Feature(7)1249..1317(+)
Exon (1)1..232
Gene:COLQ
Gene Synonym:
Exon (2)233..345
Gene:COLQ
Gene Synonym:
Exon (3)346..447
Gene:COLQ
Gene Synonym:
Exon (4)448..492
Gene:COLQ
Gene Synonym:
Exon (5)493..519
Gene:COLQ
Gene Synonym:
Exon (6)520..591
Gene:COLQ
Gene Synonym:
Exon (7)592..654
Gene:COLQ
Gene Synonym:
Exon (8)655..681
Gene:COLQ
Gene Synonym:
Exon (9)682..726
Gene:COLQ
Gene Synonym:
Exon (10)727..762
Gene:COLQ
Gene Synonym:
Exon (11)763..843
Gene:COLQ
Gene Synonym:
Exon (12)844..940
Gene:COLQ
Gene Synonym:
Exon (13)941..1080
Gene:COLQ
Gene Synonym:
Exon (14)1081..1200
Gene:COLQ
Gene Synonym:
Exon (15)1201..1321
Gene:COLQ
Gene Synonym:
Exon (16)1322..1424
Gene:COLQ
Gene Synonym:
Exon (17)1425..3005
Gene:COLQ
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_005677
Organism Homo sapiens (human)
Definition Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_005677

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
ATGGTTGTCC TGAATCCAAT GACTTTGGGA ATTTATCTTC AGCTTTTCTT CCTCTCTATC 
GTGTCTCAGC CGACTTTCAT CAACAGCGTT CTTCCAATCT CAGCAGCCCT TCCCAGCCTG
GATCAGAAGA AGCGTGGTGG CCACAAAGCA TGCTGCCTGC TGACGCCTCC TCCACCACCA
CTGTTCCCAC CACCATTCTT CAGAGGTGGC CGAAGTCCGC TTCTCTCCCC AGACATGAAG
AATCTCATGC TGGAACTGGA GACCTCGCAG TCCCCGTGCA TGCAAGGCTC GCTAGGCTCC
CCTGGGCCTC CCGGCCCCCA GGGTCCACCG GGGCTTCCTG GCAAGACAGG ACCAAAGGGA
GAAAAGGGGG AGCTTGGCCG ACCAGGAAGG AAGGGTAGAC CTGGCCCCCC AGGTGTTCCT
GGCATGCCTG GGCCCATCGG TTGGCCAGGC CCTGAAGGAC CCAGGGGTGA AAAAGGTGAC
CTGGGTATGA TGGGCTTGCC AGGGTCAAGA GGACCAATGG GCTCCAAGGG CTACCCTGGA
TCCAGAGGGG AAAAGGGATC CAGAGGTGAA AAGGGTGACC TGGGTCCCAA AGGAGAAAAG
GGTTTCCCAG GATTTCCTGG AATGTTGGGG CAGAAAGGTG AAATGGGTCC AAAAGGTGAA
CCTGGGATAG CAGGACACCG AGGACCCACA GGAAGACCAG GAAAACGAGG CAAGCAGGGA
CAGAAAGGGG ATAGTGGAGT TATGGGCCCA CCAGGCAAGC CTGGGCCTTC TGGTCAACCT
GGCCGTCCGG GGCCCCCAGG CCCCCCACCT GCAGGACAAC TTATAATGGG ACCCAAAGGG
GAAAGAGGAT TTCCCGGGCC TCCAGGAAGA TGTCTTTGTG GACCCACTAT GAATGTGAAT
AACCCTTCCT ACGGGGAATC TGTGTATGGG CCCAGTTCCC CGCGAGTTCC TGTGATTTTT
GTGGTCAACA ACCAGGAGGA GCTTGAGAGG CTGAACACCC AAAACGCCAT TGCCTTCCGC
AGAGACCAGA GATCTCTGTA CTTCAAGGAC AGCCTTGGCT GGCTCCCCAT CCAGCTGACC
CCTTTCTACC CTGTGGATTA CACTGCAGAC CAGCACGGCA CCTGTGGGGA TGGGCTCCTG
CAGCCTGGGG AGGAGTGTGA CGACGGTAAC AGCGATGTGG GTGACGACTG CATCCGCTGT
CACCGTGCCT ACTGTGGAGA TGGTCACCGG CATGAGGGTG TGGAGGACTG TGACGGCTCT
GACTTTGGCT ACCTGACATG CGAGACCTAT CTCCCTGGGT CATATGGAGA CCTGCAATGC
ACCCAGTACT GCTACATCGA CTCCACGCCC TGCCGCTACT TCACCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu16232
Clone ID Related Accession (Same CDS sequence) NM_080538
Accession Version NM_080538.2 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1338bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 07-MAY-2015
Organism Homo sapiens (human)
Product acetylcholinesterase collagenic tail peptide isoform II precursor
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK128401.1, AF057036.1 and AI554171.1. On Oct 27, 2006 this sequence version replaced gi:18105017. Transcript Variant: This variant (II) utilizes alternate exon 1A that is not present in variant I. The use of this exon results in a unique N-terminus compared to isoform I. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## CDS exon combination :: AK128401.1 [ECO:0000331] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: full length.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
ATGACGGGCT CATCATTCAG CCTCGCTCAT CTGCTCATCA TTTCAGGACT GCTCTGTTAC 
TCGGCAGGCT GCTTGGCCCT TCCCAGCCTG GATCAGAAGA AGCGTGGTGG CCACAAAGCA
TGCTGCCTGC TGACGCCTCC TCCACCACCA CTGTTCCCAC CACCATTCTT CAGAGGTGGC
CGAAGTCCGC TTCTCTCCCC AGACATGAAG AATCTCATGC TGGAACTGGA GACCTCGCAG
TCCCCGTGCA TGCAAGGCTC GCTAGGCTCC CCTGGGCCTC CCGGCCCCCA GGGTCCACCG
GGGCTTCCTG GCAAGACAGG ACCAAAGGGA GAAAAGGGGG AGCTTGGCCG ACCAGGAAGG
AAGGGTAGAC CTGGCCCCCC AGGTGTTCCT GGCATGCCTG GGCCCATCGG TTGGCCAGGC
CCTGAAGGAC CCAGGGGTGA AAAAGGTGAC CTGGGTATGA TGGGCTTGCC AGGGTCAAGA
GGACCAATGG GCTCCAAGGG CTACCCTGGA TCCAGAGGGG AAAAGGGATC CAGAGGTGAA
AAGGGTGACC TGGGTCCCAA AGGAGAAAAG GGTTTCCCAG GATTTCCTGG AATGTTGGGG
CAGAAAGGTG AAATGGGTCC AAAAGGTGAA CCTGGGATAG CAGGACACCG AGGACCCACA
GGAAGACCAG GAAAACGAGG CAAGCAGGGA CAGAAAGGGG ATAGTGGAGT TATGGGCCCA
CCAGGCAAGC CTGGGCCTTC TGGTCAACCT GGCCGTCCGG GGCCCCCAGG CCCCCCACCT
GCAGGACAAC TTATAATGGG ACCCAAAGGG GAAAGAGGAT TTCCCGGGCC TCCAGGAAGA
TGTCTTTGTG GACCCACTAT GAATGTGAAT AACCCTTCCT ACGGGGAATC TGTGTATGGG
CCCAGTTCCC CGCGAGTTCC TGTGATTTTT GTGGTCAACA ACCAGGAGGA GCTTGAGAGG
CTGAACACCC AAAACGCCAT TGCCTTCCGC AGAGACCAGA GATCTCTGTA CTTCAAGGAC
AGCCTTGGCT GGCTCCCCAT CCAGCTGACC CCTTTCTACC CTGTGGATTA CACTGCAGAC
CAGCACGGCA CCTGTGGGGA TGGGCTCCTG CAGCCTGGGG AGGAGTGTGA CGACGGTAAC
AGCGATGTGG GTGACGACTG CATCCGCTGT CACCGTGCCT ACTGTGGAGA TGGTCACCGG
CATGAGGGTG TGGAGGACTG TGACGGCTCT GACTTTGGCT ACCTGACATG CGAGACCTAT
CTCCCTGGGT CATATGGAGA CCTGCAATGC ACCCAGTACT GCTACATCGA CTCCACGCCC
TGCCGCTACT TCACCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_536799.1
CDS286..1623
Misc Feature(1)181..183(+)
Misc Feature(2)406..456(+)
Misc Feature(3)766..942(+)
Misc Feature(4)1372..>1446(+)
Misc Feature(5)1378..1446(+)
Exon (1)1..361
Gene:COLQ
Gene Synonym:
Exon (2)362..474
Gene:COLQ
Gene Synonym:
Exon (3)475..576
Gene:COLQ
Gene Synonym:
Exon (4)577..621
Gene:COLQ
Gene Synonym:
Exon (5)622..648
Gene:COLQ
Gene Synonym:
Exon (6)649..720
Gene:COLQ
Gene Synonym:
Exon (7)721..783
Gene:COLQ
Gene Synonym:
Exon (8)784..810
Gene:COLQ
Gene Synonym:
Exon (9)811..855
Gene:COLQ
Gene Synonym:
Exon (10)856..891
Gene:COLQ
Gene Synonym:
Exon (11)892..972
Gene:COLQ
Gene Synonym:
Exon (12)973..1069
Gene:COLQ
Gene Synonym:
Exon (13)1070..1209
Gene:COLQ
Gene Synonym:
Exon (14)1210..1329
Gene:COLQ
Gene Synonym:
Exon (15)1330..1450
Gene:COLQ
Gene Synonym:
Exon (16)1451..1553
Gene:COLQ
Gene Synonym:
Exon (17)1554..3134
Gene:COLQ
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_080538
Organism Homo sapiens (human)
Definition Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant II, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_080538

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
ATGACGGGCT CATCATTCAG CCTCGCTCAT CTGCTCATCA TTTCAGGACT GCTCTGTTAC 
TCGGCAGGCT GCTTGGCCCT TCCCAGCCTG GATCAGAAGA AGCGTGGTGG CCACAAAGCA
TGCTGCCTGC TGACGCCTCC TCCACCACCA CTGTTCCCAC CACCATTCTT CAGAGGTGGC
CGAAGTCCGC TTCTCTCCCC AGACATGAAG AATCTCATGC TGGAACTGGA GACCTCGCAG
TCCCCGTGCA TGCAAGGCTC GCTAGGCTCC CCTGGGCCTC CCGGCCCCCA GGGTCCACCG
GGGCTTCCTG GCAAGACAGG ACCAAAGGGA GAAAAGGGGG AGCTTGGCCG ACCAGGAAGG
AAGGGTAGAC CTGGCCCCCC AGGTGTTCCT GGCATGCCTG GGCCCATCGG TTGGCCAGGC
CCTGAAGGAC CCAGGGGTGA AAAAGGTGAC CTGGGTATGA TGGGCTTGCC AGGGTCAAGA
GGACCAATGG GCTCCAAGGG CTACCCTGGA TCCAGAGGGG AAAAGGGATC CAGAGGTGAA
AAGGGTGACC TGGGTCCCAA AGGAGAAAAG GGTTTCCCAG GATTTCCTGG AATGTTGGGG
CAGAAAGGTG AAATGGGTCC AAAAGGTGAA CCTGGGATAG CAGGACACCG AGGACCCACA
GGAAGACCAG GAAAACGAGG CAAGCAGGGA CAGAAAGGGG ATAGTGGAGT TATGGGCCCA
CCAGGCAAGC CTGGGCCTTC TGGTCAACCT GGCCGTCCGG GGCCCCCAGG CCCCCCACCT
GCAGGACAAC TTATAATGGG ACCCAAAGGG GAAAGAGGAT TTCCCGGGCC TCCAGGAAGA
TGTCTTTGTG GACCCACTAT GAATGTGAAT AACCCTTCCT ACGGGGAATC TGTGTATGGG
CCCAGTTCCC CGCGAGTTCC TGTGATTTTT GTGGTCAACA ACCAGGAGGA GCTTGAGAGG
CTGAACACCC AAAACGCCAT TGCCTTCCGC AGAGACCAGA GATCTCTGTA CTTCAAGGAC
AGCCTTGGCT GGCTCCCCAT CCAGCTGACC CCTTTCTACC CTGTGGATTA CACTGCAGAC
CAGCACGGCA CCTGTGGGGA TGGGCTCCTG CAGCCTGGGG AGGAGTGTGA CGACGGTAAC
AGCGATGTGG GTGACGACTG CATCCGCTGT CACCGTGCCT ACTGTGGAGA TGGTCACCGG
CATGAGGGTG TGGAGGACTG TGACGGCTCT GACTTTGGCT ACCTGACATG CGAGACCTAT
CTCCCTGGGT CATATGGAGA CCTGCAATGC ACCCAGTACT GCTACATCGA CTCCACGCCC
TGCCGCTACT TCACCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family
Pediatr. Neurol. 51 (1), 165-169 (2014)
Matlik HN, Milhem RM, Saadeldin IY, Al-Jaibeji HS, Al-Gazali L and Ali BR.


book

COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina
Hum. Genet. 133 (5), 599-616 (2014)
Arredondo J, Lara M, Ng F, Gochez DA, Lee DC, Logia SP, Nguyen J and Maselli RA.


book

Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction
Hum. Mutat. 34 (7), 997-1004 (2013)
Nakata T, Ito M, Azuma Y, Otsuka K, Noguchi Y, Komaki H, Okumura A, Shiraishi K, Masuda A, Natsume J, Kojima S and Ohno K.


book

Recurrent COLQ mutation in congenital myasthenic syndrome
Pediatr. Neurol. 46 (4), 253-256 (2012)
Guven A, Demirci M and Anlar B.


book

Molecular modeling of the collagen-like tail of asymmetric acetylcholinesterase
Protein Eng. 13 (1), 27-34 (2000)
Deprez P and Inestrosa NC.


book

Conserved aromatic residues of the C-terminus of human butyrylcholinesterase mediate the association of tetramers
Biochemistry 38 (40), 13414-13422 (1999)
Altamirano CV and Lockridge O.


book

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), 635-644 (1999)
Ohno K, Brengman JM, Felice KJ, Cornblath DR and Engel AG.


book

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), 967-975 (1998)
Donger C, Krejci E, Serradell AP, Eymard B, Bon S, Nicole S, Chateau D, Gary F, Fardeau M, Massoulie J and Guicheney P.


book

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), 9654-9659 (1998)
Ohno K, Brengman J, Tsujino A and Engel AG.


book

Congenital Myasthenic Syndromes
(in) Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Abicht,A., Muller,J. S and Lochmuller,H.


 
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