LOCUS       AJ225895                1867 bp    mRNA    linear   HUM 07-OCT-2008
DEFINITION  Homo sapiens mRNA for acetylcholinesterase-associated collagen
            COLQ.
ACCESSION   AJ225895
VERSION     AJ225895.1
KEYWORDS    acetylcholinesterase-associated collagen; COLQ gene.
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 1867)
  AUTHORS   Guicheney P.
  JOURNAL   Submitted (06-FEB-1998) to the INSDC. Guicheney P., INSERM U153,
            Groupe hospitalier Pitie-Salpetriere, 47 boulevard de l'Hopital,
            Paris 75651, FRANCE.
REFERENCE   2
  AUTHORS   Donger C., Krejci E., Pou Serradell A., Eymard B., Bon S.,
            Nicole S., Chateau D., Gary F., Fardeau M., Massoulie J.,
            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
FEATURES             Location/Qualifiers
     source          1..1867
                     /db_xref="H-InvDB:HIT000245002"
                     /organism="Homo sapiens"
                     /chromosome="3"
                     /map="p25"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
     CDS             120..1490
                     /gene="COLQ"
                     /product="acetylcholinesterase-associated collagen"
                     /db_xref="GOA:Q9Y215"
                     /db_xref="H-InvDB:HIT000245002.14"
                     /db_xref="HGNC:HGNC:2226"
                     /db_xref="InterPro:IPR011936"
                     /db_xref="PDB:1VZJ"
                     /db_xref="UniProtKB/Swiss-Prot:Q9Y215"
                     /protein_id="CAA12648.1"
                     /translation="MVVLNPMTLGIYLQLFFLSIVSQPTFINSVLPISAALPSLDQKK
                     RGGHKACCLLTPPPPPLFPPPFFRGGRSPLLSPDMKNLMLELETSQSPCMQGSLGSPG
                     PPGPQGPPGLPGKTGPKGEKGELGRPGRKGRPGPPGVPGMPGPIGWPGPEGPRGEKGD
                     LGMMGLPGSRGPMGSKGYPGSRGEKGSRGEKGDLGPKGEKGFPGFPGMLGQKGEMGPK
                     GEPGIAGHRGPTGRPGKRGKQGQKGDSGVMGPPGKPGPSGQPGRPGPPGPPPAGQLIM
                     GPKGERGFPGPPGRCLCGPTMNVNNPSYGESVYGPSSPRVPVIFVVNNQEELERLNTQ
                     NAIAFRRDQRSLYFKDSLGWLPIQLTPFYPVDYTADQHGTCGDGLLQPGEECDDGNSD
                     VGDDCIRDCHRAYCGDGHRHEGVEDCDGSDFGYLTCETYLPGSYGDLQCTQYCYIDST
                     PCRYFT"
     misc_feature    270..320
                     /gene="COLQ"
                     /note="proline rich attachment domain"
     misc_feature    420..904
                     /gene="COLQ"
                     /note="collagen domain 1"
     misc_feature    507..518
                     /gene="COLQ"
                     /note="heparin binding site 1"
     misc_feature    822..833
                     /gene="COLQ"
                     /note="heparin binding site 2"
     misc_feature    951..989
                     /gene="COLQ"
                     /note="collagen domain 2"
BASE COUNT          444 a          537 c          514 g          371 t
ORIGIN      
        1 acacacacac acacaaacac acgcgcacgc aaacagcagt gaggaagaga aaagcagaga
       61 taagcaaggc tccgcagcag cctcctttct aacttgaccc tcgccagacc ctggccagca
      121 tggttgtcct gaatccaatg actttgggaa tttatcttca gcttttcttc ctctctatcg
      181 tgtctcagcc gactttcatc aacagcgttc ttccaatctc agcagccctt cccagcctgg
      241 atcagaagaa gcgtggtggc cacaaagcat gctgcctgct gacgcctcct ccaccaccac
      301 tgttcccacc accattcttc agaggtggcc gaagtccgct tctctcccca gacatgaaga
      361 atctcatgct ggaactggag acctcgcagt ccccgtgcat gcaaggctcg ctaggctccc
      421 ctgggcctcc cggcccccag ggtccaccgg ggcttcctgg caagacagga ccaaagggag
      481 aaaaggggga gcttggccga ccaggaagga agggtagacc tggcccccca ggtgttcctg
      541 gcatgcctgg gcccatcggt tggccaggcc ctgaaggacc caggggtgaa aaaggtgacc
      601 tgggtatgat gggcttgcca gggtcaagag gaccaatggg ctccaagggc taccctggat
      661 ccagagggga aaagggatcc agaggtgaaa agggtgacct gggtcccaaa ggagaaaagg
      721 gtttcccagg atttcctgga atgttggggc agaaaggtga aatgggtcca aaaggtgaac
      781 ctgggatagc aggacaccga ggacccacag gaagaccagg aaaacgaggc aagcagggac
      841 agaaagggga tagtggagtt atgggcccac caggcaagcc tgggccttct ggtcaacctg
      901 gccgtccggg gcccccaggc cccccacctg caggacaact tataatggga cccaaagggg
      961 aaagaggatt tcccgggcct ccaggaagat gtctttgtgg acccactatg aatgtgaata
     1021 acccttccta cggggaatct gtgtatgggc ccagttcccc gcgagttcct gtgatttttg
     1081 tggtcaacaa ccaggaggag cttgagaggc tgaacaccca aaacgccatt gccttccgca
     1141 gagaccagag atctctgtac ttcaaggaca gccttggctg gctccccatc cagctgaccc
     1201 ctttctaccc tgtggattac actgcagacc agcacggcac ctgtggggat gggctcctgc
     1261 agcctgggga ggagtgtgac gacggtaaca gcgatgtggg tgacgactgc atccgtgact
     1321 gtcaccgtgc ctactgtgga gatggtcacc ggcatgaggg tgtggaggac tgtgacggct
     1381 ctgactttgg ctacctgaca tgcgagacct atctccctgg gtcatatgga gacctgcaat
     1441 gcacccagta ctgctacatc gactccacgc cctgccgcta cttcacctga gggccgtgag
     1501 agaaggtggg ctgcgccaca ggaactggca gcagcttctc cactgtcatc aaactggcca
     1561 tgtcctggcc ccgtctccac caacctttgt gtgacaaaaa caaggacaaa ttcctgctac
     1621 taagacatgc tgttaactca gtctgactgg aagaatttag gaccactgca tcctgtctta
     1681 atccaaggta ctggaaaacc ttccacatgc ccaacctgag acctgttccc catcgctacc
     1741 atttggccaa acaaccggct acaatggctc ttcctcttct ggaatgttgc tgacccagng
     1801 ccgtggactt gggctggagc actgtttaga cacacataga ccggcaggcc tgttttagta
     1861 tgttttg
//