LOCUS       NM_005677               2960 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens collagen like tail subunit of asymmetric
            acetylcholinesterase (COLQ), transcript variant I, mRNA.
ACCESSION   NM_005677
VERSION     NM_005677.4
KEYWORDS    RefSeq; MANE Select.
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 2960)
  AUTHORS   Hesami,O., Ramezani,M., Ghasemi,A., Fatehi,F., Okhovat,A.A.,
            Ziaadini,B., Kariminejad,A. and Nafissi,S.
  TITLE     COLQ-Congenital myasthenic syndrome in an Iranian cohort: the
            clinical and genetics spectrum
  JOURNAL   Orphanet J Rare Dis 19 (1), 113 (2024)
   PUBMED   38475910
  REMARK    GeneRIF: COLQ-Congenital myasthenic syndrome in an Iranian cohort:
            the clinical and genetics spectrum.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2960)
  AUTHORS   Barbeau,S., Semprez,F., Dobbertin,A., Merriadec,L., Roussange,F.,
            Eymard,B., Sternberg,D., Fournier,E., Karasoy,H., Martinat,C. and
            Legay,C.
  TITLE     Molecular Analysis of a Congenital Myasthenic Syndrome Due to a
            Pathogenic Variant Affecting the C-Terminus of ColQ
  JOURNAL   Int J Mol Sci 24 (22), 16217 (2023)
   PUBMED   38003406
  REMARK    GeneRIF: Molecular Analysis of a Congenital Myasthenic Syndrome Due
            to a Pathogenic Variant Affecting the C-Terminus of ColQ.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2960)
  AUTHORS   Mishra,S., Nair,K.V. and Shukla,A.
  TITLE     Delineation of molecular characteristics of congenital myasthenic
            syndromes in Indian families and review of literature
  JOURNAL   Clin Dysmorphol 32 (4), 162-167 (2023)
   PUBMED   37646703
  REMARK    GeneRIF: Delineation of molecular characteristics of congenital
            myasthenic syndromes in Indian families and review of literature.
            Review article
REFERENCE   4  (bases 1 to 2960)
  AUTHORS   Uyen Dao,T.M., Barbeau,S., Messeant,J., Della-Gaspera,B.,
            Bouceba,T., Semprez,F., Legay,C. and Dobbertin,A.
  TITLE     The collagen ColQ binds to LRP4 and regulates the activation of the
            Muscle-Specific Kinase-LRP4 receptor complex by agrin at the
            neuromuscular junction
  JOURNAL   J Biol Chem 299 (8), 104962 (2023)
   PUBMED   37356721
  REMARK    GeneRIF: The collagen ColQ binds to LRP4 and regulates the
            activation of the Muscle-Specific Kinase-LRP4 receptor complex by
            agrin at the neuromuscular junction.
REFERENCE   5  (bases 1 to 2960)
  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   6  (bases 1 to 2960)
  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   7  (bases 1 to 2960)
  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   8  (bases 1 to 2960)
  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   9  (bases 1 to 2960)
  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
REFERENCE   10 (bases 1 to 2960)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301347
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 Nov 22, 2018 this sequence version replaced NM_005677.3.
            
            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, SRR1803611.51101.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000383788.10/ ENSP00000373298.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1792              AF057036.1         46-1837
            1793-2610           AK128401.1         1967-2784
            2611-2843           AF057036.1         2656-2888
            2844-2927           AK128401.1         2854-2937
            2928-2960           AI554171.1         3-35                c
FEATURES             Location/Qualifiers
     source          1..2960
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.1"
     gene            1..2960
                     /gene="COLQ"
                     /gene_synonym="CMS5; EAD"
                     /note="collagen like tail subunit of asymmetric
                     acetylcholinesterase"
                     /db_xref="GeneID:8292"
                     /db_xref="HGNC:HGNC:2226"
                     /db_xref="MIM:603033"
     exon            1..187
                     /gene="COLQ"
                     /gene_synonym="CMS5; EAD"
                     /inference="alignment:Splign:2.1.0"
     CDS             82..1449
                     /gene="COLQ"
                     /gene_synonym="CMS5; 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;
                     collagen-like tail subunit (single strand of homotrimer)
                     of asymmetric acetylcholinesterase"
                     /codon_start=1
                     /product="acetylcholinesterase collagenic tail peptide
                     isoform I precursor"
                     /protein_id="NP_005668.2"
                     /db_xref="CCDS:CCDS33709.1"
                     /db_xref="GeneID:8292"
                     /db_xref="HGNC:HGNC:2226"
                     /db_xref="MIM:603033"
                     /translation="MVVLNPMTLGIYLQLFFLSIVSQPTFINSVLPISAALPSLDQKK
                     RGGHKACCLLTPPPPPLFPPPFFRGGRSPLLSPDMKNLMLELETSQSPCMQGSLGSPG
                     PPGPQGPPGLPGKTGPKGEKGELGRPGRKGRPGPPGVPGMPGPIGWPGPEGPRGEKGD
                     LGMMGLPGSRGPMGSKGYPGSRGEKGSRGEKGDLGPKGEKGFPGFPGMLGQKGEMGPK
                     GEPGIAGHRGPTGRPGKRGKQGQKGDSGVMGPPGKPGPSGQPGRPGPPGPPPAGQLIM
                     GPKGERGFPGPPGRCLCGPTMNVNNPSYGESVYGPSSPRVPVIFVVNNQEELERLNTQ
                     NAIAFRRDQRSLYFKDSLGWLPIQLTPFYPVDYTADQHGTCGDGLLQPGEECDDGNSD
                     VGDDCIRCHRAYCGDGHRHEGVEDCDGSDFGYLTCETYLPGSYGDLQCTQYCYIDSTP
                     CRYFT"
     exon            188..300
                     /gene="COLQ"
                     /gene_synonym="CMS5; EAD"
                     /inference="alignment:Splign:2.1.0"
     exon            301..402
                     /gene="COLQ"
                     /gene_synonym="CMS5; EAD"
                     /inference="alignment:Splign:2.1.0"
     exon            403..447
                     /gene="COLQ"
                     /gene_synonym="CMS5; EAD"
                     /inference="alignment:Splign:2.1.0"
     exon            448..474
                     /gene="COLQ"
                     /gene_synonym="CMS5; EAD"
                     /inference="alignment:Splign:2.1.0"
     exon            475..546
                     /gene="COLQ"
                     /gene_synonym="CMS5; EAD"
                     /inference="alignment:Splign:2.1.0"
     exon            547..609
                     /gene="COLQ"
                     /gene_synonym="CMS5; EAD"
                     /inference="alignment:Splign:2.1.0"
     exon            610..636
                     /gene="COLQ"
                     /gene_synonym="CMS5; EAD"
                     /inference="alignment:Splign:2.1.0"
     exon            637..681
                     /gene="COLQ"
                     /gene_synonym="CMS5; EAD"
                     /inference="alignment:Splign:2.1.0"
     exon            682..717
                     /gene="COLQ"
                     /gene_synonym="CMS5; EAD"
                     /inference="alignment:Splign:2.1.0"
     exon            718..798
                     /gene="COLQ"
                     /gene_synonym="CMS5; EAD"
                     /inference="alignment:Splign:2.1.0"
     exon            799..895
                     /gene="COLQ"
                     /gene_synonym="CMS5; EAD"
                     /inference="alignment:Splign:2.1.0"
     exon            896..1035
                     /gene="COLQ"
                     /gene_synonym="CMS5; EAD"
                     /inference="alignment:Splign:2.1.0"
     exon            1036..1155
                     /gene="COLQ"
                     /gene_synonym="CMS5; EAD"
                     /inference="alignment:Splign:2.1.0"
     exon            1156..1276
                     /gene="COLQ"
                     /gene_synonym="CMS5; EAD"
                     /inference="alignment:Splign:2.1.0"
     exon            1277..1379
                     /gene="COLQ"
                     /gene_synonym="CMS5; EAD"
                     /inference="alignment:Splign:2.1.0"
     exon            1380..2960
                     /gene="COLQ"
                     /gene_synonym="CMS5; EAD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2930..2935
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COLQ"
                     /gene_synonym="CMS5; EAD"
                     /note="hexamer: AATAAA"
     polyA_site      2960
                     /gene="COLQ"
                     /gene_synonym="CMS5; EAD"
                     /note="major polyA site"
ORIGIN      
        1 gtgaggaaga gaaaagcaga gataagcaag gctccgcagc agcctccttt ctaacttgac
       61 cctcgccaga ccctggccag catggttgtc ctgaatccaa tgactttggg aatttatctt
      121 cagcttttct tcctctctat cgtgtctcag ccgactttca tcaacagcgt tcttccaatc
      181 tcagcagccc ttcccagcct ggatcagaag aagcgtggtg gccacaaagc atgctgcctg
      241 ctgacgcctc ctccaccacc actgttccca ccaccattct tcagaggtgg ccgaagtccg
      301 cttctctccc cagacatgaa gaatctcatg ctggaactgg agacctcgca gtccccgtgc
      361 atgcaaggct cgctaggctc ccctgggcct cccggccccc agggtccacc ggggcttcct
      421 ggcaagacag gaccaaaggg agaaaagggg gagcttggcc gaccaggaag gaagggtaga
      481 cctggccccc caggtgttcc tggcatgcct gggcccatcg gttggccagg ccctgaagga
      541 cccaggggtg aaaaaggtga cctgggtatg atgggcttgc cagggtcaag aggaccaatg
      601 ggctccaagg gctaccctgg atccagaggg gaaaagggat ccagaggtga aaagggtgac
      661 ctgggtccca aaggagaaaa gggtttccca ggatttcctg gaatgttggg gcagaaaggt
      721 gaaatgggtc caaaaggtga acctgggata gcaggacacc gaggacccac aggaagacca
      781 ggaaaacgag gcaagcaggg acagaaaggg gatagtggag ttatgggccc accaggcaag
      841 cctgggcctt ctggtcaacc tggccgtccg gggcccccag gccccccacc tgcaggacaa
      901 cttataatgg gacccaaagg ggaaagagga tttcccgggc ctccaggaag atgtctttgt
      961 ggacccacta tgaatgtgaa taacccttcc tacggggaat ctgtgtatgg gcccagttcc
     1021 ccgcgagttc ctgtgatttt tgtggtcaac aaccaggagg agcttgagag gctgaacacc
     1081 caaaacgcca ttgccttccg cagagaccag agatctctgt acttcaagga cagccttggc
     1141 tggctcccca tccagctgac ccctttctac cctgtggatt acactgcaga ccagcacggc
     1201 acctgtgggg atgggctcct gcagcctggg gaggagtgtg acgacggtaa cagcgatgtg
     1261 ggtgacgact gcatccgctg tcaccgtgcc tactgtggag atggtcaccg gcatgagggt
     1321 gtggaggact gtgacggctc tgactttggc tacctgacat gcgagaccta tctccctggg
     1381 tcatatggag acctgcaatg cacccagtac tgctacatcg actccacgcc ctgccgctac
     1441 ttcacctgag ggccgtgagg agaaggtggg ctgcgcccca cagaactggc agcagcttct
     1501 ccactgtcat caaactggcc atgtcctggc cccgtctcca ccaacctttg tgtgacaaaa
     1561 acaaggacaa attcctgcta ctaagacatg ctgttaactc agtctgactg gaagaattta
     1621 ggaccactgc atcctgtctt aatccaaggt actggaaaac cttccacatg cccaacctga
     1681 gacctgttcc ccatcgctac catttggcca aacaaccggc tacaatgctc ttcctcttct
     1741 ggaatgttgc tgacccaggc cgtggacttg gctgagcact gttagacaca cacagacctg
     1801 caggctgttt tagaatgttt tgatctcttt ggggaatctg gagtacaggc ctctccgccc
     1861 ctgaccaccg aaacgtgcag gcattctcac tcacactggg cagcccgctg tcgggtctct
     1921 ctaggcctat gaaccacaaa gcagggaagt gggcacgttc tctcggggtg gctcacagct
     1981 ttgaacctgc caaaggaccc ctcgactggc cacagcccag cccagcctga cgtggatgtg
     2041 gctgcccagg aaaagactta actgtgaaaa agtactgaga acccacctga cccaggcttg
     2101 ccccaagcag aggctagaga agaggctcct cttctcagtg tttcccaaag gggcggctct
     2161 tgtggtttca aaatctctgg caccatcttg acctcttggc tctctctgca ctttgccccc
     2221 tgtctcaaaa atgtccctca tgtccatttc ctgtccagga gactcatgag gactgtgtga
     2281 cctgcacaag cccacacctg ggcaggctgt tggtgtctcc ttggtcctta ggcagatact
     2341 cccctgagtc cccgatctag ggccagctgc agagggctct ctctaggcag agcgttcctg
     2401 gccagagctc tacctctttg cctcctgctg acccctgaca gcgtcccgtg gcatttcttt
     2461 catgtctgca tattgcatag ccttgtcctc ctgtgtgcct gagctcctcc cttttcaata
     2521 agattattag tcgtgcatgt ctgtgagctg cctttcatca ccatttttcc tgagtagggc
     2581 ttagttttat tctggaaaga catctccaag gtgaggtcca cccccacagc agacctcaag
     2641 tagaaattgc ccaattttta ccagctggag ggacaccctt gggtttttgt acgaagctat
     2701 ttaatgagcc tgtgtcttgg ggactcagca ggctggagct tggggcctgg tggaccatca
     2761 cctggtgtct gtaggtggac ccggtctccc acaggtgaca tcaacctgag ggtggcgtct
     2821 ttagagacag gcacatgggc agccctgttc ccttcgcctc tactgcgagg cctggggaga
     2881 tgttgttttc atgctgcttc caccatcaca ctggggtttc tggatgggaa ataaaaaaat
     2941 aaaggcagtt catttcccca
//
