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2019-03-20 12:39:53, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_005677               3007 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens collagen-like tail subunit (single strand of
            homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript
            variant I, mRNA.
ACCESSION   NM_005677
VERSION     NM_005677.3  GI:116805306
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 3007)
  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 3007)
  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 3007)
  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 3007)
  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 3007)
  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 3007)
  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 3007)
  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 3007)
  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 3007)
  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 3007)
  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, 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.
            
            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 (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
                                           ERS025082, ERS025083 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1837              AF057036.1         1-1837
            1838-2655           AK128401.1         1967-2784
            2656-2888           AF057036.1         2656-2888
            2889-2972           AK128401.1         2854-2937
            2973-3007           AI554171.1         1-35                c
FEATURES             Location/Qualifiers
     source          1..3007
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25"
     gene            1..3007
                     /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..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..1577
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /db_xref="UniSTS:481319"
     STS             97..1544
                     /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..1542
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /db_xref="UniSTS:486357"
     CDS             127..1494
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /note="isoform I precursor is encoded by transcript
                     variant I; 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 I precursor"
                     /protein_id="NP_005668.2"
                     /db_xref="GI:18105016"
                     /db_xref="CCDS:CCDS33709.1"
                     /db_xref="GeneID:8292"
                     /db_xref="HGNC:2226"
                     /db_xref="HPRD:04328"
                     /db_xref="MIM:603033"
                     /translation="
MVVLNPMTLGIYLQLFFLSIVSQPTFINSVLPISAALPSLDQKKRGGHKACCLLTPPPPPLFPPPFFRGGRSPLLSPDMKNLMLELETSQSPCMQGSLGSPGPPGPQGPPGLPGKTGPKGEKGELGRPGRKGRPGPPGVPGMPGPIGWPGPEGPRGEKGDLGMMGLPGSRGPMGSKGYPGSRGEKGSRGEKGDLGPKGEKGFPGFPGMLGQKGEMGPKGEPGIAGHRGPTGRPGKRGKQGQKGDSGVMGPPGKPGPSGQPGRPGPPGPPPAGQLIMGPKGERGFPGPPGRCLCGPTMNVNNPSYGESVYGPSSPRVPVIFVVNNQEELERLNTQNAIAFRRDQRSLYFKDSLGWLPIQLTPFYPVDYTADQHGTCGDGLLQPGEECDDGNSDVGDDCIRCHRAYCGDGHRHEGVEDCDGSDFGYLTCETYLPGSYGDLQCTQYCYIDSTPCRYFT
"
     sig_peptide     127..192
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     193..1491
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /product="acetylcholinesterase collagenic tail peptide
                     isoform I"
     misc_feature    277..327
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /note="Region: proline-rich attachment domain (PRAD)"
     misc_feature    514..525
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y215.2);
                     Region: Heparan sulfate proteoglycan binding (Potential)"
     misc_feature    610..798
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /note="Collagen triple helix repeat (20 copies); Region:
                     Collagen; pfam01391"
                     /db_xref="CDD:189968"
     misc_feature    829..840
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y215.2);
                     Region: Heparan sulfate proteoglycan binding (Potential)"
     misc_feature    1243..>1317
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /note="Myxococcus cysteine-rich repeat; Region:
                     myxo_disulf_rpt; TIGR02232"
                     /db_xref="CDD:200169"
     misc_feature    <1249..1326
                     /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..447
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /inference="alignment:Splign:1.39.8"
     variation       426
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2305611"
     exon            448..492
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /inference="alignment:Splign:1.39.8"
     exon            493..519
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /inference="alignment:Splign:1.39.8"
     exon            520..591
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /inference="alignment:Splign:1.39.8"
     exon            592..654
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /inference="alignment:Splign:1.39.8"
     exon            655..681
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /inference="alignment:Splign:1.39.8"
     exon            682..726
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /inference="alignment:Splign:1.39.8"
     exon            727..762
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /inference="alignment:Splign:1.39.8"
     exon            763..843
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /inference="alignment:Splign:1.39.8"
     exon            844..940
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /inference="alignment:Splign:1.39.8"
     exon            941..1080
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /inference="alignment:Splign:1.39.8"
     exon            1081..1200
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /inference="alignment:Splign:1.39.8"
     exon            1201..1321
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /inference="alignment:Splign:1.39.8"
     exon            1322..1424
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /inference="alignment:Splign:1.39.8"
     variation       1374
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:55866379"
     exon            1425..3005
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /inference="alignment:Splign:1.39.8"
     variation       1838
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2278961"
     variation       1859
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:2278962"
     variation       2245
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368981773"
     variation       2495
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3846128"
     STS             2518..2667
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /standard_name="COLQ"
                     /db_xref="UniSTS:479816"
     STS             2824..2973
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /standard_name="WI-17996"
                     /db_xref="UniSTS:31462"
     STS             2851..2952
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /standard_name="PMC311069P6"
                     /db_xref="UniSTS:272887"
     variation       2889
                     /gene="COLQ"
                     /gene_synonym="EAD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3274"
     polyA_signal    2975..2980
                     /gene="COLQ"
                     /gene_synonym="EAD"
     polyA_signal    2983..2988
                     /gene="COLQ"
                     /gene_synonym="EAD"
     polyA_site      3005
                     /gene="COLQ"
                     /gene_synonym="EAD"
ORIGIN      
cacacgcacacacacacacacaaacacacgcgcacgcaaacagcagtgaggaagagaaaagcagagataagcaaggctccgcagcagcctcctttctaacttgaccctcgccagaccctggccagcatggttgtcctgaatccaatgactttgggaatttatcttcagcttttcttcctctctatcgtgtctcagccgactttcatcaacagcgttcttccaatctcagcagcccttcccagcctggatcagaagaagcgtggtggccacaaagcatgctgcctgctgacgcctcctccaccaccactgttcccaccaccattcttcagaggtggccgaagtccgcttctctccccagacatgaagaatctcatgctggaactggagacctcgcagtccccgtgcatgcaaggctcgctaggctcccctgggcctcccggcccccagggtccaccggggcttcctggcaagacaggaccaaagggagaaaagggggagcttggccgaccaggaaggaagggtagacctggccccccaggtgttcctggcatgcctgggcccatcggttggccaggccctgaaggacccaggggtgaaaaaggtgacctgggtatgatgggcttgccagggtcaagaggaccaatgggctccaagggctaccctggatccagaggggaaaagggatccagaggtgaaaagggtgacctgggtcccaaaggagaaaagggtttcccaggatttcctggaatgttggggcagaaaggtgaaatgggtccaaaaggtgaacctgggatagcaggacaccgaggacccacaggaagaccaggaaaacgaggcaagcagggacagaaaggggatagtggagttatgggcccaccaggcaagcctgggccttctggtcaacctggccgtccggggcccccaggccccccacctgcaggacaacttataatgggacccaaaggggaaagaggatttcccgggcctccaggaagatgtctttgtggacccactatgaatgtgaataacccttcctacggggaatctgtgtatgggcccagttccccgcgagttcctgtgatttttgtggtcaacaaccaggaggagcttgagaggctgaacacccaaaacgccattgccttccgcagagaccagagatctctgtacttcaaggacagccttggctggctccccatccagctgacccctttctaccctgtggattacactgcagaccagcacggcacctgtggggatgggctcctgcagcctggggaggagtgtgacgacggtaacagcgatgtgggtgacgactgcatccgctgtcaccgtgcctactgtggagatggtcaccggcatgagggtgtggaggactgtgacggctctgactttggctacctgacatgcgagacctatctccctgggtcatatggagacctgcaatgcacccagtactgctacatcgactccacgccctgccgctacttcacctgagggccgtgaggagaaggtgggctgcgccccacagaactggcagcagcttctccactgtcatcaaactggccatgtcctggccccgtctccaccaacctttgtgtgacaaaaacaaggacaaattcctgctactaagacatgctgttaactcagtctgactggaagaatttaggaccactgcatcctgtcttaatccaaggtactggaaaaccttccacatgcccaacctgagacctgttccccatcgctaccatttggccaaacaaccggctacaatgctcttcctcttctggaatgttgctgacccaggccgtggacttggctgagcactgttagacacacacagacctgcaggctgttttagaatgttttgatctctttggggaatctggagtacaggcctctccgcccctgaccaccgaaacgtgcaggcattctcactcacactgggcagcccgctgtcgggtctctctaggcctatgaaccacaaagcagggaagtgggcacgttctctcggggtggctcacagctttgaacctgccaaaggacccctcgactggccacagcccagcccagcctgacgtggatgtggctgcccaggaaaagacttaactgtgaaaaagtactgagaacccacctgacccaggcttgccccaagcagaggctagagaagaggctcctcttctcagtgtttcccaaaggggcggctcttgtggtttcaaaatctctggcaccatcttgacctcttggctctctctgcactttgccccctgtctcaaaaatgtccctcatgtccatttcctgtccaggagactcatgaggactgtgtgacctgcacaagcccacacctgggcaggctgttggtgtctccttggtccttaggcagatactcccctgagtccccgatctagggccagctgcagagggctctctctaggcagagcgttcctggccagagctctacctctttgcctcctgctgacccctgacagcgtcccgtggcatttctttcatgtctgcatattgcatagccttgtcctcctgtgtgcctgagctcctcccttttcaataagattattagtcgtgcatgtctgtgagctgcctttcatcaccatttttcctgagtagggcttagttttattctggaaagacatctccaaggtgaggtccacccccacagcagacctcaagtagaaattgcccaatttttaccagctggagggacacccttgggtttttgtacgaagctatttaatgagcctgtgtcttggggactcagcaggctggagcttggggcctggtggaccatcacctggtgtctgtaggtggacccggtctcccacaggtgacatcaacctgagggtggcgtctttagagacaggcacatgggcagccctgttcccttcgcctctactgcgaggcctggggagatgttgttttcatgctgcttccaccatcacactggggtttctggatgggaaataaaaaaataaaggcagttcatttccccaaa
//

Annotations:

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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