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 //