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2025-05-09 18:38:28, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_080538 3136 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens collagen-like tail subunit (single strand of
homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript
variant II, mRNA.
ACCESSION NM_080538
VERSION NM_080538.2 GI:116805311
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 3136)
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 3136)
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 3136)
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 3136)
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 3136)
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 3136)
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 3136)
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 3136)
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 3136)
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 3136)
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 AK128401.1, AF057036.1 and
AI554171.1.
On Oct 27, 2006 this sequence version replaced gi:18105017.
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 (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 ERS025082,
ERS025083 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: full length.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-361 AK128401.1 1-361
362-1966 AF057036.1 233-1837
1967-2784 AK128401.1 1967-2784
2785-3017 AF057036.1 2656-2888
3018-3101 AK128401.1 2854-2937
3102-3136 AI554171.1 1-35 c
FEATURES Location/Qualifiers
source 1..3136
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3p25"
gene 1..3136
/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="HPRD:04328"
/db_xref="MIM:603033"
exon 1..361
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
misc_feature 181..183
/gene="COLQ"
/gene_synonym="EAD"
/note="upstream in-frame stop codon"
CDS 286..1623
/gene="COLQ"
/gene_synonym="EAD"
/note="isoform II precursor is encoded by transcript
variant II; 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 II precursor"
/protein_id="NP_536799.1"
/db_xref="GI:18105018"
/db_xref="CCDS:CCDS46768.1"
/db_xref="GeneID:8292"
/db_xref="HGNC:2226"
/db_xref="HPRD:04328"
/db_xref="MIM:603033"
/translation="
MTGSSFSLAHLLIISGLLCYSAGCLALPSLDQKKRGGHKACCLLTPPPPPLFPPPFFRGGRSPLLSPDMKNLMLELETSQSPCMQGSLGSPGPPGPQGPPGLPGKTGPKGEKGELGRPGRKGRPGPPGVPGMPGPIGWPGPEGPRGEKGDLGMMGLPGSRGPMGSKGYPGSRGEKGSRGEKGDLGPKGEKGFPGFPGMLGQKGEMGPKGEPGIAGHRGPTGRPGKRGKQGQKGDSGVMGPPGKPGPSGQPGRPGPPGPPPAGQLIMGPKGERGFPGPPGRCLCGPTMNVNNPSYGESVYGPSSPRVPVIFVVNNQEELERLNTQNAIAFRRDQRSLYFKDSLGWLPIQLTPFYPVDYTADQHGTCGDGLLQPGEECDDGNSDVGDDCIRCHRAYCGDGHRHEGVEDCDGSDFGYLTCETYLPGSYGDLQCTQYCYIDSTPCRYFT
"
sig_peptide 286..363
/gene="COLQ"
/gene_synonym="EAD"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
misc_feature 406..456
/gene="COLQ"
/gene_synonym="EAD"
/note="Region: proline-rich attachment domain (PRAD)"
misc_feature 739..927
/gene="COLQ"
/gene_synonym="EAD"
/note="Collagen triple helix repeat (20 copies); Region:
Collagen; pfam01391"
/db_xref="CDD:189968"
misc_feature 1372..>1446
/gene="COLQ"
/gene_synonym="EAD"
/note="Myxococcus cysteine-rich repeat; Region:
myxo_disulf_rpt; TIGR02232"
/db_xref="CDD:200169"
misc_feature <1378..1455
/gene="COLQ"
/gene_synonym="EAD"
/note="Domain of unknown function (DUF4215); Region:
DUF4215; pfam13948"
/db_xref="CDD:206119"
exon 362..474
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 475..576
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
variation 555
/gene="COLQ"
/gene_synonym="EAD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2305611"
exon 577..621
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 622..648
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 649..720
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 721..783
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 784..810
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 811..855
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 856..891
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 892..972
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 973..1069
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 1070..1209
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 1210..1329
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 1330..1450
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
exon 1451..1553
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
variation 1503
/gene="COLQ"
/gene_synonym="EAD"
/replace="c"
/replace="t"
/db_xref="dbSNP:55866379"
exon 1554..3134
/gene="COLQ"
/gene_synonym="EAD"
/inference="alignment:Splign:1.39.8"
variation 1967
/gene="COLQ"
/gene_synonym="EAD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2278961"
variation 1988
/gene="COLQ"
/gene_synonym="EAD"
/replace="a"
/replace="t"
/db_xref="dbSNP:2278962"
variation 2374
/gene="COLQ"
/gene_synonym="EAD"
/replace="c"
/replace="t"
/db_xref="dbSNP:368981773"
variation 2624
/gene="COLQ"
/gene_synonym="EAD"
/replace="a"
/replace="g"
/db_xref="dbSNP:3846128"
STS 2647..2796
/gene="COLQ"
/gene_synonym="EAD"
/standard_name="COLQ"
/db_xref="UniSTS:479816"
STS 2953..3102
/gene="COLQ"
/gene_synonym="EAD"
/standard_name="WI-17996"
/db_xref="UniSTS:31462"
STS 2980..3081
/gene="COLQ"
/gene_synonym="EAD"
/standard_name="PMC311069P6"
/db_xref="UniSTS:272887"
variation 3018
/gene="COLQ"
/gene_synonym="EAD"
/replace="c"
/replace="t"
/db_xref="dbSNP:3274"
polyA_signal 3104..3109
/gene="COLQ"
/gene_synonym="EAD"
polyA_signal 3112..3117
/gene="COLQ"
/gene_synonym="EAD"
polyA_site 3134
/gene="COLQ"
/gene_synonym="EAD"
ORIGIN
atatcctcccctgggctgaaggcactcttgtcctccaagcctcccctacagcagtgttcatgggcagctggagcagggctgcctacccattgctactcccaggagctcaggactggctccagacccctggcatctggagcagaagcaacatcaaagcagggattggccaactcccacccctaatgccaaacaggccaggcactgggagcactcagaggcgtgacgaatctcagcctgtctccggctagtgttccctggccagtccgctttgggccctgcctcacaatgacgggctcatcattcagcctcgctcatctgctcatcatttcaggactgctctgttactcggcaggctgcttggcccttcccagcctggatcagaagaagcgtggtggccacaaagcatgctgcctgctgacgcctcctccaccaccactgttcccaccaccattcttcagaggtggccgaagtccgcttctctccccagacatgaagaatctcatgctggaactggagacctcgcagtccccgtgcatgcaaggctcgctaggctcccctgggcctcccggcccccagggtccaccggggcttcctggcaagacaggaccaaagggagaaaagggggagcttggccgaccaggaaggaagggtagacctggccccccaggtgttcctggcatgcctgggcccatcggttggccaggccctgaaggacccaggggtgaaaaaggtgacctgggtatgatgggcttgccagggtcaagaggaccaatgggctccaagggctaccctggatccagaggggaaaagggatccagaggtgaaaagggtgacctgggtcccaaaggagaaaagggtttcccaggatttcctggaatgttggggcagaaaggtgaaatgggtccaaaaggtgaacctgggatagcaggacaccgaggacccacaggaagaccaggaaaacgaggcaagcagggacagaaaggggatagtggagttatgggcccaccaggcaagcctgggccttctggtcaacctggccgtccggggcccccaggccccccacctgcaggacaacttataatgggacccaaaggggaaagaggatttcccgggcctccaggaagatgtctttgtggacccactatgaatgtgaataacccttcctacggggaatctgtgtatgggcccagttccccgcgagttcctgtgatttttgtggtcaacaaccaggaggagcttgagaggctgaacacccaaaacgccattgccttccgcagagaccagagatctctgtacttcaaggacagccttggctggctccccatccagctgacccctttctaccctgtggattacactgcagaccagcacggcacctgtggggatgggctcctgcagcctggggaggagtgtgacgacggtaacagcgatgtgggtgacgactgcatccgctgtcaccgtgcctactgtggagatggtcaccggcatgagggtgtggaggactgtgacggctctgactttggctacctgacatgcgagacctatctccctgggtcatatggagacctgcaatgcacccagtactgctacatcgactccacgccctgccgctacttcacctgagggccgtgaggagaaggtgggctgcgccccacagaactggcagcagcttctccactgtcatcaaactggccatgtcctggccccgtctccaccaacctttgtgtgacaaaaacaaggacaaattcctgctactaagacatgctgttaactcagtctgactggaagaatttaggaccactgcatcctgtcttaatccaaggtactggaaaaccttccacatgcccaacctgagacctgttccccatcgctaccatttggccaaacaaccggctacaatgctcttcctcttctggaatgttgctgacccaggccgtggacttggctgagcactgttagacacacacagacctgcaggctgttttagaatgttttgatctctttggggaatctggagtacaggcctctccgcccctgaccaccgaaacgtgcaggcattctcactcacactgggcagcccgctgtcgggtctctctaggcctatgaaccacaaagcagggaagtgggcacgttctctcggggtggctcacagctttgaacctgccaaaggacccctcgactggccacagcccagcccagcctgacgtggatgtggctgcccaggaaaagacttaactgtgaaaaagtactgagaacccacctgacccaggcttgccccaagcagaggctagagaagaggctcctcttctcagtgtttcccaaaggggcggctcttgtggtttcaaaatctctggcaccatcttgacctcttggctctctctgcactttgccccctgtctcaaaaatgtccctcatgtccatttcctgtccaggagactcatgaggactgtgtgacctgcacaagcccacacctgggcaggctgttggtgtctccttggtccttaggcagatactcccctgagtccccgatctagggccagctgcagagggctctctctaggcagagcgttcctggccagagctctacctctttgcctcctgctgacccctgacagcgtcccgtggcatttctttcatgtctgcatattgcatagccttgtcctcctgtgtgcctgagctcctcccttttcaataagattattagtcgtgcatgtctgtgagctgcctttcatcaccatttttcctgagtagggcttagttttattctggaaagacatctccaaggtgaggtccacccccacagcagacctcaagtagaaattgcccaatttttaccagctggagggacacccttgggtttttgtacgaagctatttaatgagcctgtgtcttggggactcagcaggctggagcttggggcctggtggaccatcacctggtgtctgtaggtggacccggtctcccacaggtgacatcaacctgagggtggcgtctttagagacaggcacatgggcagccctgttcccttcgcctctactgcgaggcctggggagatgttgttttcatgctgcttccaccatcacactggggtttctggatgggaaataaaaaaataaaggcagttcatttccccaaa
//
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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