LOCUS       NM_009937               2777 bp    mRNA    linear   ROD 12-JUN-2024
DEFINITION  Mus musculus collagen like tail subunit of asymmetric
            acetylcholinesterase (Colq), mRNA.
ACCESSION   NM_009937 XM_356716 XM_898771 XM_898787 XM_982239 XM_982272
            XM_982303 XM_985387 XM_985419 XM_985465
VERSION     NM_009937.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2777)
  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   2  (bases 1 to 2777)
  AUTHORS   Kurz,J., Weiss,A.C., Thiesler,H., Qasrawi,F., Deuper,L., Kaur,J.,
            Rudat,C., Ludtke,T.H., Wojahn,I., Hildebrandt,H., Trowe,M.O. and
            Kispert,A.
  TITLE     Notch signaling is a novel regulator of visceral smooth muscle cell
            differentiation in the murine ureter
  JOURNAL   Development 149 (4) (2022)
   PUBMED   35103284
REFERENCE   3  (bases 1 to 2777)
  AUTHORS   McMacken,G.M., Spendiff,S., Whittaker,R.G., O'Connor,E.,
            Howarth,R.M., Boczonadi,V., Horvath,R., Slater,C.R. and
            Lochmuller,H.
  TITLE     Salbutamol modifies the neuromuscular junction in a mouse model of
            ColQ myasthenic syndrome
  JOURNAL   Hum Mol Genet 28 (14), 2339-2351 (2019)
   PUBMED   31220253
REFERENCE   4  (bases 1 to 2777)
  AUTHORS   Ito,K., Ohkawara,B., Yagi,H., Nakashima,H., Tsushima,M., Ota,K.,
            Konishi,H., Masuda,A., Imagama,S., Kiyama,H., Ishiguro,N. and
            Ohno,K.
  TITLE     Lack of Fgf18 causes abnormal clustering of motor nerve terminals
            at the neuromuscular junction with reduced acetylcholine receptor
            clusters
  JOURNAL   Sci Rep 8 (1), 434 (2018)
   PUBMED   29323161
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2777)
  AUTHORS   Sigoillot,S.M., Bourgeois,F., Karmouch,J., Molgo,J., Dobbertin,A.,
            Chevalier,C., Houlgatte,R., Leger,J. and Legay,C.
  TITLE     Neuromuscular junction immaturity and muscle atrophy are hallmarks
            of the ColQ-deficient mouse, a model of congenital myasthenic
            syndrome with acetylcholinesterase deficiency
  JOURNAL   FASEB J 30 (6), 2382-2399 (2016)
   PUBMED   26993635
  REMARK    GeneRIF: This study demonstrated that ColQ controls the development
            and the maturation of the postsynaptic domain by regulating
            synaptic gene expression.
REFERENCE   6  (bases 1 to 2777)
  AUTHORS   Carninci,P., Waki,K., Shiraki,T., Konno,H., Shibata,K., Itoh,M.,
            Aizawa,K., Arakawa,T., Ishii,Y., Sasaki,D., Bono,H., Kondo,S.,
            Sugahara,Y., Saito,R., Osato,N., Fukuda,S., Sato,K., Watahiki,A.,
            Hirozane-Kishikawa,T., Nakamura,M., Shibata,Y., Yasunishi,A.,
            Kikuchi,N., Yoshiki,A., Kusakabe,M., Gustincich,S., Beisel,K.,
            Pavan,W., Aidinis,V., Nakagawara,A., Held,W.A., Iwata,H., Kono,T.,
            Nakauchi,H., Lyons,P., Wells,C., Hume,D.A., Fagiolini,M.,
            Hensch,T.K., Brinkmeier,M., Camper,S., Hirota,J., Mombaerts,P.,
            Muramatsu,M., Okazaki,Y., Kawai,J. and Hayashizaki,Y.
  TITLE     Targeting a complex transcriptome: the construction of the mouse
            full-length cDNA encyclopedia
  JOURNAL   Genome Res 13 (6B), 1273-1289 (2003)
   PUBMED   12819125
REFERENCE   7  (bases 1 to 2777)
  AUTHORS   Minic,J., Molgo,J., Karlsson,E. and Krejci,E.
  TITLE     Regulation of acetylcholine release by muscarinic receptors at the
            mouse neuromuscular junction depends on the activity of
            acetylcholinesterase
  JOURNAL   Eur J Neurosci 15 (3), 439-448 (2002)
   PUBMED   11876771
REFERENCE   8  (bases 1 to 2777)
  AUTHORS   Feng,G., Krejci,E., Molgo,J., Cunningham,J.M., Massoulie,J. and
            Sanes,J.R.
  TITLE     Genetic analysis of collagen Q: roles in acetylcholinesterase and
            butyrylcholinesterase assembly and in synaptic structure and
            function
  JOURNAL   J Cell Biol 144 (6), 1349-1360 (1999)
   PUBMED   10087275
REFERENCE   9  (bases 1 to 2777)
  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 2777)
  AUTHORS   Krejci,E., Thomine,S., Boschetti,N., Legay,C., Sketelj,J. and
            Massoulie,J.
  TITLE     The mammalian gene of acetylcholinesterase-associated collagen
  JOURNAL   J Biol Chem 272 (36), 22840-22847 (1997)
   PUBMED   9278446
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC109509.20.
            
            On Nov 5, 2020 this sequence version replaced NM_009937.2.
            
            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 :: BC107386.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-183               AC109509.20        81438-81620         c
            184-296             AC109509.20        58035-58147         c
            297-395             AC109509.20        57187-57285         c
            396-440             AC109509.20        53752-53796         c
            441-467             AC109509.20        53394-53420         c
            468-539             AC109509.20        51742-51813         c
            540-602             AC109509.20        49352-49414         c
            603-629             AC109509.20        48954-48980         c
            630-674             AC109509.20        48283-48327         c
            675-710             AC109509.20        48082-48117         c
            711-791             AC109509.20        44116-44196         c
            792-897             AC109509.20        39884-39989         c
            898-1037            AC109509.20        33788-33927         c
            1038-1157           AC109509.20        33062-33181         c
            1158-1278           AC109509.20        32571-32691         c
            1279-1381           AC109509.20        30281-30383         c
            1382-2777           AC109509.20        27379-28774         c
FEATURES             Location/Qualifiers
     source          1..2777
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="14"
                     /map="14 19.18 cM"
     gene            1..2777
                     /gene="Colq"
                     /gene_synonym="A130034K24Rik"
                     /note="collagen like tail subunit of asymmetric
                     acetylcholinesterase"
                     /db_xref="GeneID:382864"
                     /db_xref="MGI:MGI:1338761"
     exon            1..183
                     /gene="Colq"
                     /gene_synonym="A130034K24Rik"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..1451
                     /gene="Colq"
                     /gene_synonym="A130034K24Rik"
                     /note="acetylcholinesterase-associated collagen;
                     acetylcholinesterase collagenic tail peptide; AChE Q
                     subunit; collagen-like tail subunit (single strand of
                     homotrimer) of asymmetric acetylcholinesterase"
                     /codon_start=1
                     /product="acetylcholinesterase collagenic tail peptide
                     precursor"
                     /protein_id="NP_034067.2"
                     /db_xref="CCDS:CCDS36856.2"
                     /db_xref="GeneID:382864"
                     /db_xref="MGI:MGI:1338761"
                     /translation="MVVLNPMTLGIYLQLFFCSIVSQPTFINSVVPISAALPGLDQKK
                     RGSHKACCLLMPPPPPLFPPPFFRGSRSPLLSPDMKNLLELEASPSPCIQGSLGSPGP
                     PGPQGPPGLPGKTGPKGEKGDLGRPGRKGRPGPPGVPGMPGPVGWPGPEGPRGEKGDL
                     GMMGLPGSRGPMGSKGFPGSRGEKGSRGERGDLGPKGEKGFPGFPGMLGQKGEMGPKG
                     ESGLAGHRGPTGRPGKRGKQGQKGDSGIMGPPGKPGPSGQPGRQGPPGPPGPPSAGQL
                     VMGLKGERGFPGPPGRCLCGPPVNVNNPSYGDSMYGRGSPRVPAIFVVNNQEELERLN
                     TQNAIAFRRDQRSLYFKDSLGWLPIQLTPFYPVGYTVKQPGTCGDGVLQPGEECDDGN
                     PDVSDGCIDCHRAYCGDGYRHQGVEDCDGSDFGYLTCETYLPGSYGDLRCTQYCSIDS
                     TPCRYFT"
     exon            184..296
                     /gene="Colq"
                     /gene_synonym="A130034K24Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            297..395
                     /gene="Colq"
                     /gene_synonym="A130034K24Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            396..440
                     /gene="Colq"
                     /gene_synonym="A130034K24Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            441..467
                     /gene="Colq"
                     /gene_synonym="A130034K24Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            468..539
                     /gene="Colq"
                     /gene_synonym="A130034K24Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            540..602
                     /gene="Colq"
                     /gene_synonym="A130034K24Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            603..629
                     /gene="Colq"
                     /gene_synonym="A130034K24Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            630..674
                     /gene="Colq"
                     /gene_synonym="A130034K24Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            675..710
                     /gene="Colq"
                     /gene_synonym="A130034K24Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            711..791
                     /gene="Colq"
                     /gene_synonym="A130034K24Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            792..897
                     /gene="Colq"
                     /gene_synonym="A130034K24Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            898..1037
                     /gene="Colq"
                     /gene_synonym="A130034K24Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1038..1157
                     /gene="Colq"
                     /gene_synonym="A130034K24Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1158..1278
                     /gene="Colq"
                     /gene_synonym="A130034K24Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1279..1381
                     /gene="Colq"
                     /gene_synonym="A130034K24Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1382..2777
                     /gene="Colq"
                     /gene_synonym="A130034K24Rik"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1651..1656
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Colq"
                     /gene_synonym="A130034K24Rik"
                     /note="hexamer: ATTAAA"
     polyA_site      1672
                     /gene="Colq"
                     /gene_synonym="A130034K24Rik"
                     /note="major polyA site"
ORIGIN      
        1 agtcaggaca aagctgagct aggagaggct cccagcagcc ttgccctctg acttgatatt
       61 aaccagacct ggccagcatg gtggtcctga atccaatgac tttgggaatt tatctccaac
      121 tcttcttctg ctccatcgtg tctcagccaa ctttcatcaa cagtgtggtc ccaatctcag
      181 cagcccttcc tggcctggat cagaagaagc ggggcagcca caaagcatgc tgcctactca
      241 tgcccccacc gcccccactc ttcccaccgc cgttcttcag aggcagccgg agcccgcttc
      301 tctccccaga catgaagaac cttctggaac ttgaggcgtc accatcaccc tgcattcaag
      361 gctcgctcgg ctctcctggg ccccctgggc cccagggtcc acctgggctt cctggcaaga
      421 caggaccaaa gggagaaaag ggggaccttg gccgcccagg aaggaagggt agacctggac
      481 ccccaggtgt tcctggcatg cctgggcccg ttggctggcc aggccctgaa ggacccaggg
      541 gtgaaaaagg tgacctgggt atgatgggcc tgccggggtc aagaggaccg atgggctcta
      601 agggtttccc tggatccaga ggggaaaagg gatccagagg tgaaaggggt gacttgggtc
      661 ccaaaggaga aaagggtttc cctgggtttc ctggaatgct ggggcagaaa ggtgaaatgg
      721 gtccaaaggg agagtctggg ctggcaggac accgaggccc cacaggaaga ccaggaaaac
      781 gaggcaagca gggtcagaag ggagacagtg gaattatggg cccaccaggc aagcctgggc
      841 cttctggtca acctggccgt caaggtcctc cagggccccc aggcccacca tctgcaggac
      901 aacttgtaat gggactcaaa ggggaaagag gatttccagg gcctccagga agatgccttt
      961 gcggaccccc tgtgaatgtg aataacccct cctacgggga ctccatgtat gggcgtggct
     1021 cccctcgagt tcctgcgatt tttgtggtca acaaccagga agagcttgag aggctgaaca
     1081 ctcagaatgc cattgccttt cgaagagacc agcgatcttt gtacttcaaa gatagccttg
     1141 gctggctccc catccagctc acccctttct accctgtggg ttacaccgtg aagcagcctg
     1201 gcacctgcgg ggatggagtc ctgcagcctg gggaagagtg tgatgatggt aatcccgatg
     1261 tgagtgatgg ctgcatcgac tgtcatcggg cctactgtgg agacggttac cggcaccagg
     1321 gcgtggagga ctgtgacggc tctgactttg gctacctgac atgcgagacc tatctccctg
     1381 gatcatacgg agaccttcgg tgcacccagt actgctccat cgactccaca ccctgccgct
     1441 acttcacgtg agaggctgca ggaacaggtg ggctgccgcc catggaaccg gtggctgttt
     1501 ctctaccctt cacatcaagc tggccttgcc ctctcccggg acagtgcctg ttaaccttca
     1561 tgtgacaaaa caaggatata ttcttgctgc tacgacatgc ttttgactca gtatgactgg
     1621 aagagttttg gaccactgaa tcctgtctta attaaaagaa ccagaaacct tctatatgcc
     1681 caccctggaa actgttcccc ctccccgaat ctggctaaac agctggctgt aatgccttat
     1741 ctcttctgga aagacgctgg ctcagaccgt ggatttggct tagcactgtt aagcatacag
     1801 gtatctacag gcctggtgtg gtttgttctg gtctcattca ggtttagggg tgctcctgca
     1861 caggcttctg cacctccaag cacagctgat ctgatccaag gctgttgggc ctctcaagat
     1921 ttgagaacca caaagcagga ggtgagcata ttctcttggt gcagctccca gcttcagacc
     1981 tgctgaggga cccttcaact ggccagagcc tggatcaatt tcatgttgat cagtcagagg
     2041 aactgagaaa gccactagat ccaagcttag tcccaagaag agggtgaaga ctcggctgag
     2101 tcacttgtgt gtgaccccta ccagaacaga gactttcctc ctcttgaagt tctctgaggg
     2161 gcgccatctt gaccttgtgg ttctctctgc atcttgacct ctgtcttgac agtgccctcc
     2221 acaactgtgt cctgtgtggg agactcaccc cacacgccct ccccagggca cgtgctggtg
     2281 tttcctcacg ctggtttctc tggtttgggg ctccacggcc aagtccttgt tggctgaggg
     2341 caggaccttg taaccctctt ccatgcacaa cttgcacacc ccctgttccc tcactgtgtg
     2401 cccaacctct tcctttttcc tgggattctt tatcctaaac cctgcatatc tgagaaccgc
     2461 ctttctcata tttcctgaat ggggtttgac tctatttggg gaaaacattg cttttggtcc
     2521 ccctccccaa tatgcacacc tgcctttgcc actacatagg ctgcctctgg gctgttggaa
     2581 gctcttcagt gagcctaagt cttgggaact cagcaggcgg caccttctca cacagcaagt
     2641 ccgagctgtg aactgtagtt cgtgagagaa atcagcctga ggctgtcttc acaggcagac
     2701 atctatcctg cttcctcttc cggggcttct gggtgggcaa acaaggaata aaggtgattc
     2761 ttggctgtgg cccactc
//
