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2025-05-09 18:40:21, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_080539 2905 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens collagen-like tail subunit (single strand of
homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript
variant III, mRNA.
ACCESSION NM_080539
VERSION NM_080539.3 GI:145701008
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 2905)
AUTHORS Guven,A., Demirci,M. and Anlar,B.
TITLE Recurrent COLQ mutation in congenital myasthenic syndrome
JOURNAL Pediatr. Neurol. 46 (4), 253-256 (2012)
PUBMED 22490774
REMARK GeneRIF: This study presented that four cases illustrate the
clinical spectrum of the recurrent homozygous W148X mutation in the
COLQ gene.
REFERENCE 2 (bases 1 to 2905)
AUTHORS 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.
TITLE Long-term follow-up of patients with congenital myasthenic syndrome
caused by COLQ mutations
JOURNAL Neuromuscul. Disord. 22 (4), 318-324 (2012)
PUBMED 22088788
REMARK GeneRIF: Long-term follow-up of patients with COLQ mutations showed
no genotype-phenotype correlation, 80% of patients were ambulant
and 87% of patients had no respiratory trouble in spite of severe
relapses.
REFERENCE 3 (bases 1 to 2905)
AUTHORS Yeung,W.L., Lam,C.W. and Ng,P.C.
TITLE Intra-familial variation in clinical manifestations and response to
ephedrine in siblings with congenital myasthenic syndrome caused by
novel COLQ mutations
JOURNAL Dev Med Child Neurol 52 (10), E243-E244 (2010)
PUBMED 20370815
REMARK GeneRIF: two siblings have identical novel heterozygous mutations
but different phenotypic expressions.
REFERENCE 4 (bases 1 to 2905)
AUTHORS 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.
TITLE Clinical and molecular genetic findings in COLQ-mutant congenital
myasthenic syndromes
JOURNAL Brain 131 (PT 3), 747-759 (2008)
PUBMED 18180250
REMARK GeneRIF: Twenty different mutations of the COLQ gene have been
identified in our patients: The mutations are missense (6),
splice-site (3), in-frame deletion (1), non-sense (4) and
frameshift (6). The majority of the mutations are protein
truncating.
REFERENCE 5 (bases 1 to 2905)
AUTHORS Schreiner,F., Hoppenz,M., Klaeren,R., Reimann,J. and Woelfle,J.
TITLE Novel COLQ mutation 950delC in synaptic congenital myasthenic
syndrome and symptomatic heterozygous relatives
JOURNAL Neuromuscul. Disord. 17 (3), 262-265 (2007)
PUBMED 17300939
REMARK GeneRIF: we found familial occurrence of congenital ptosis in
heterozygous carriers of 950delC.
REFERENCE 6 (bases 1 to 2905)
AUTHORS Deprez,P. and Inestrosa,N.C.
TITLE Molecular modeling of the collagen-like tail of asymmetric
acetylcholinesterase
JOURNAL Protein Eng. 13 (1), 27-34 (2000)
PUBMED 10679527
REFERENCE 7 (bases 1 to 2905)
AUTHORS Altamirano,C.V. and Lockridge,O.
TITLE Conserved aromatic residues of the C-terminus of human
butyrylcholinesterase mediate the association of tetramers
JOURNAL Biochemistry 38 (40), 13414-13422 (1999)
PUBMED 10529218
REFERENCE 8 (bases 1 to 2905)
AUTHORS Ohno,K., Brengman,J.M., Felice,K.J., Cornblath,D.R. and Engel,A.G.
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. 65 (3), 635-644 (1999)
PUBMED 10441569
REFERENCE 9 (bases 1 to 2905)
AUTHORS Donger,C., Krejci,E., Serradell,A.P., Eymard,B., Bon,S., Nicole,S.,
Chateau,D., Gary,F., Fardeau,M., Massoulie,J. and Guicheney,P.
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. 63 (4), 967-975 (1998)
PUBMED 9758617
REFERENCE 10 (bases 1 to 2905)
AUTHORS Ohno,K., Brengman,J., Tsujino,A. and Engel,A.G.
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. 95 (16), 9654-9659 (1998)
PUBMED 9689136
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.
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.
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 ERS025082, ERS025083
[ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: full length.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-15 AF057036.1 1-15
16-488 BX500613.1 3-475
489-1735 AF057036.1 591-1837
1736-2553 AK128401.1 1967-2784
2554-2786 AF057036.1 2656-2888
2787-2870 AK128401.1 2854-2937
2871-2905 AI554171.1 1-35 c
FEATURES Location/Qualifiers
source 1..2905
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3p25"
gene 1..2905
/gene="COLQ"
/gene_synonym="EAD"
/note="collagen-like tail subunit (single strand of
homotrimer) of asymmetric acetylcholinesterase"
/db_xref="GeneID:8292"
/db_xref="HGNC:2226"
/db_xref="MIM:603033"
exon 1..232
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
variation 22..23
/gene="COLQ"
/gene_synonym="EAD"
/replace=""
/replace="ca"
/db_xref="dbSNP:3836381"
STS 38..1475
/gene="COLQ"
/gene_synonym="EAD"
/db_xref="UniSTS:481319"
STS 97..1442
/gene="COLQ"
/gene_synonym="EAD"
/db_xref="UniSTS:482054"
misc_feature 97..99
/gene="COLQ"
/gene_synonym="EAD"
/note="upstream in-frame stop codon"
STS 98..1440
/gene="COLQ"
/gene_synonym="EAD"
/db_xref="UniSTS:486357"
CDS 127..1392
/gene="COLQ"
/gene_synonym="EAD"
/note="isoform III precursor is encoded by transcript
variant III; single strand of homotrimeric collagen-like
tail subunit of asymmetric acetylcholinesterase; AChE Q
subunit; acetylcholinesterase-associated collagen;
collagenic tail of endplate acetylcholinesterase;
acetylcholinesterase collagenic tail peptide"
/codon_start=1
/product="acetylcholinesterase collagenic tail peptide
isoform III precursor"
/protein_id="NP_536800.2"
/db_xref="GI:145701009"
/db_xref="CCDS:CCDS43057.1"
/db_xref="GeneID:8292"
/db_xref="HGNC:2226"
/db_xref="MIM:603033"
/translation="
MVVLNPMTLGIYLQLFFLSIVSQPTFINSVLPISAALPSLDQKKRGGHKACCLLTPPPPPLFPPPFFRGGRSPGPPGLPGKTGPKGEKGELGRPGRKGRPGPPGVPGMPGPIGWPGPEGPRGEKGDLGMMGLPGSRGPMGSKGYPGSRGEKGSRGEKGDLGPKGEKGFPGFPGMLGQKGEMGPKGEPGIAGHRGPTGRPGKRGKQGQKGDSGVMGPPGKPGPSGQPGRPGPPGPPPAGQLIMGPKGERGFPGPPGRCLCGPTMNVNNPSYGESVYGPSSPRVPVIFVVNNQEELERLNTQNAIAFRRDQRSLYFKDSLGWLPIQLTPFYPVDYTADQHGTCGDGLLQPGEECDDGNSDVGDDCIRCHRAYCGDGHRHEGVEDCDGSDFGYLTCETYLPGSYGDLQCTQYCYIDSTPCRYFT
"
sig_peptide 127..192
/gene="COLQ"
/gene_synonym="EAD"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
mat_peptide 193..1389
/gene="COLQ"
/gene_synonym="EAD"
/product="acetylcholinesterase collagenic tail peptide
isoform III"
misc_feature 508..696
/gene="COLQ"
/gene_synonym="EAD"
/note="Collagen triple helix repeat (20 copies); Region:
Collagen; pfam01391"
/db_xref="CDD:189968"
misc_feature 1141..>1215
/gene="COLQ"
/gene_synonym="EAD"
/note="Myxococcus cysteine-rich repeat; Region:
myxo_disulf_rpt; TIGR02232"
/db_xref="CDD:200169"
misc_feature <1147..1224
/gene="COLQ"
/gene_synonym="EAD"
/note="Domain of unknown function (DUF4215); Region:
DUF4215; pfam13948"
/db_xref="CDD:206119"
exon 233..345
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 346..390
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 391..417
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 418..489
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 490..552
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 553..579
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 580..624
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 625..660
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 661..741
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 742..838
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 839..978
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 979..1098
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 1099..1219
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 1220..1322
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
variation 1272
/gene="COLQ"
/gene_synonym="EAD"
/replace="c"
/replace="t"
/db_xref="dbSNP:55866379"
exon 1323..2903
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
variation 1736
/gene="COLQ"
/gene_synonym="EAD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2278961"
variation 1757
/gene="COLQ"
/gene_synonym="EAD"
/replace="a"
/replace="t"
/db_xref="dbSNP:2278962"
variation 2143
/gene="COLQ"
/gene_synonym="EAD"
/replace="c"
/replace="t"
/db_xref="dbSNP:368981773"
variation 2393
/gene="COLQ"
/gene_synonym="EAD"
/replace="a"
/replace="g"
/db_xref="dbSNP:3846128"
STS 2416..2565
/gene="COLQ"
/gene_synonym="EAD"
/standard_name="COLQ"
/db_xref="UniSTS:479816"
STS 2722..2871
/gene="COLQ"
/gene_synonym="EAD"
/standard_name="WI-17996"
/db_xref="UniSTS:31462"
STS 2749..2850
/gene="COLQ"
/gene_synonym="EAD"
/standard_name="PMC311069P6"
/db_xref="UniSTS:272887"
variation 2787
/gene="COLQ"
/gene_synonym="EAD"
/replace="c"
/replace="t"
/db_xref="dbSNP:3274"
polyA_signal 2873..2878
/gene="COLQ"
/gene_synonym="EAD"
polyA_signal 2881..2886
/gene="COLQ"
/gene_synonym="EAD"
polyA_site 2903
/gene="COLQ"
/gene_synonym="EAD"
ORIGIN
cacacgcacacacacacacacaaacacacgcgcacgcaaacagcagtgaggaagagaaaagcagagataagcaaggctccgcagcagcctcctttctaacttgaccctcgccagaccctggccagcatggttgtcctgaatccaatgactttgggaatttatcttcagcttttcttcctctctatcgtgtctcagccgactttcatcaacagcgttcttccaatctcagcagcccttcccagcctggatcagaagaagcgtggtggccacaaagcatgctgcctgctgacgcctcctccaccaccactgttcccaccaccattcttcagaggtggccgaagtccgggtccaccggggcttcctggcaagacaggaccaaagggagaaaagggggagcttggccgaccaggaaggaagggtagacctggccccccaggtgttcctggcatgcctgggcccatcggttggccaggccctgaaggacccaggggtgaaaaaggtgacctgggtatgatgggcttgccagggtcaagaggaccaatgggctccaagggctaccctggatccagaggggaaaagggatccagaggtgaaaagggtgacctgggtcccaaaggagaaaagggtttcccaggatttcctggaatgttggggcagaaaggtgaaatgggtccaaaaggtgaacctgggatagcaggacaccgaggacccacaggaagaccaggaaaacgaggcaagcagggacagaaaggggatagtggagttatgggcccaccaggcaagcctgggccttctggtcaacctggccgtccggggcccccaggccccccacctgcaggacaacttataatgggacccaaaggggaaagaggatttcccgggcctccaggaagatgtctttgtggacccactatgaatgtgaataacccttcctacggggaatctgtgtatgggcccagttccccgcgagttcctgtgatttttgtggtcaacaaccaggaggagcttgagaggctgaacacccaaaacgccattgccttccgcagagaccagagatctctgtacttcaaggacagccttggctggctccccatccagctgacccctttctaccctgtggattacactgcagaccagcacggcacctgtggggatgggctcctgcagcctggggaggagtgtgacgacggtaacagcgatgtgggtgacgactgcatccgctgtcaccgtgcctactgtggagatggtcaccggcatgagggtgtggaggactgtgacggctctgactttggctacctgacatgcgagacctatctccctgggtcatatggagacctgcaatgcacccagtactgctacatcgactccacgccctgccgctacttcacctgagggccgtgaggagaaggtgggctgcgccccacagaactggcagcagcttctccactgtcatcaaactggccatgtcctggccccgtctccaccaacctttgtgtgacaaaaacaaggacaaattcctgctactaagacatgctgttaactcagtctgactggaagaatttaggaccactgcatcctgtcttaatccaaggtactggaaaaccttccacatgcccaacctgagacctgttccccatcgctaccatttggccaaacaaccggctacaatgctcttcctcttctggaatgttgctgacccaggccgtggacttggctgagcactgttagacacacacagacctgcaggctgttttagaatgttttgatctctttggggaatctggagtacaggcctctccgcccctgaccaccgaaacgtgcaggcattctcactcacactgggcagcccgctgtcgggtctctctaggcctatgaaccacaaagcagggaagtgggcacgttctctcggggtggctcacagctttgaacctgccaaaggacccctcgactggccacagcccagcccagcctgacgtggatgtggctgcccaggaaaagacttaactgtgaaaaagtactgagaacccacctgacccaggcttgccccaagcagaggctagagaagaggctcctcttctcagtgtttcccaaaggggcggctcttgtggtttcaaaatctctggcaccatcttgacctcttggctctctctgcactttgccccctgtctcaaaaatgtccctcatgtccatttcctgtccaggagactcatgaggactgtgtgacctgcacaagcccacacctgggcaggctgttggtgtctccttggtccttaggcagatactcccctgagtccccgatctagggccagctgcagagggctctctctaggcagagcgttcctggccagagctctacctctttgcctcctgctgacccctgacagcgtcccgtggcatttctttcatgtctgcatattgcatagccttgtcctcctgtgtgcctgagctcctcccttttcaataagattattagtcgtgcatgtctgtgagctgcctttcatcaccatttttcctgagtagggcttagttttattctggaaagacatctccaaggtgaggtccacccccacagcagacctcaagtagaaattgcccaatttttaccagctggagggacacccttgggtttttgtacgaagctatttaatgagcctgtgtcttggggactcagcaggctggagcttggggcctggtggaccatcacctggtgtctgtaggtggacccggtctcccacaggtgacatcaacctgagggtggcgtctttagagacaggcacatgggcagccctgttcccttcgcctctactgcgaggcctggggagatgttgttttcatgctgcttccaccatcacactggggtttctggatgggaaataaaaaaataaaggcagttcatttccccaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:8292 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:8292 -> Biological process: GO:0001507 [acetylcholine catabolic process in synaptic cleft] evidence: TAS
GeneID:8292 -> Biological process: GO:0008105 [asymmetric protein localization] evidence: TAS
GeneID:8292 -> Cellular component: GO:0005581 [collagen] evidence: IEA
GeneID:8292 -> Cellular component: GO:0005605 [basal lamina] evidence: TAS
GeneID:8292 -> Cellular component: GO:0005615 [extracellular space] evidence: TAS
GeneID:8292 -> Cellular component: GO:0030054 [cell junction] evidence: IEA
GeneID:8292 -> Cellular component: GO:0045202 [synapse] evidence: IEA
by
@meso_cacase at
DBCLS
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