LOCUS HSU18423 1491 bp mRNA linear HUM 12-MAY-1995 DEFINITION Human spinal muscular atrophy gene product mRNA, complete cds. ACCESSION U18423 VERSION U18423.1 KEYWORDS spinal muscular atrophy determining 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 1491) AUTHORS Lefebvre,S., Burglen,L., Reboullet,S., Clermont,O., Burlet,P., Viollet,L., Benichou,B., Cruaud,C., Millasseau,P., Zeviani,M. et al. TITLE Identification and characterization of a spinal muscular atrophy-determining gene JOURNAL Cell 80 (1), 155-165 (1995) PUBMED 7813012 REFERENCE 2 (bases 1 to 1491) AUTHORS Lefebvre,S. TITLE Direct Submission JOURNAL Submitted (13-DEC-1994) Suzie Lefebvre, INSERM U-393, Hopital Necker- Enfants Malades, 149 rue de Sevres, 75743, Paris, Cedex 15, France FEATURES Location/Qualifiers source 1..1491 /db_xref="H-InvDB:HIT000218455" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="5" /map="5q13" /clone="541" gene 1..1491 /gene="spinal muscular atrophy determining gene" exon 1..114 /gene="spinal muscular atrophy determining gene" /number=1 5'UTR 1..33 /gene="spinal muscular atrophy determining gene" CDS 34..918 /gene="spinal muscular atrophy determining gene" /note="survival motor neuron" /codon_start=1 /protein_id="AAA66242.1" /translation="MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYD KAVASFKHALKNGDICETSGKPKTTPKRKPAKKNKSQKKNTAASLQQWKVGDKCSAIW SEDGCIYPATIASIDFKRETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENE NESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPMPGPRLGPGKPGLKFNGPP PPPPPPPPHLLSCWLPPFPSGPPIIPPPPPICPDSLDDADALGSMLISWYMSGYHTGY YMGFRQNQKEGRCSHSLN" exon 115..306 /gene="spinal muscular atrophy determining gene" /number=2 exon 307..507 /gene="spinal muscular atrophy determining gene" /number=3 exon 508..660 /gene="spinal muscular atrophy determining gene" /number=4 exon 661..756 /gene="spinal muscular atrophy determining gene" /number=5 exon 757..867 /gene="spinal muscular atrophy determining gene" /number=6 exon 868..921 /gene="spinal muscular atrophy determining gene" /number=7 3'UTR 919..1491 /gene="spinal muscular atrophy determining gene" exon 922..1491 /gene="spinal muscular atrophy determining gene" /note="exon 8 is noncoding" /number=8 polyA_site 1491 /gene="spinal muscular atrophy determining gene" /note="91 A nucleotides" BASE COUNT 470 a 283 c 336 g 402 t ORIGIN 1 cggggcccca cgctgcgcat ccgcgggttt gctatggcga tgagcagcgg cggcagtggt 61 ggcggcgtcc cggagcagga ggattccgtg ctgttccggc gcggcacagg ccagagcgat 121 gattctgaca tttgggatga tacagcactg ataaaagcat atgataaagc tgtggcttca 181 tttaagcatg ctctaaagaa tggtgacatt tgtgaaactt cgggtaaacc aaaaaccaca 241 cctaaaagaa aacctgctaa gaagaataaa agccaaaaga agaatactgc agcttcctta 301 caacagtgga aagttgggga caaatgttct gccatttggt cagaagacgg ttgcatttac 361 ccagctacca ttgcttcaat tgattttaag agagaaacct gtgttgtggt ttacactgga 421 tatggaaata gagaggagca aaatctgtcc gatctacttt ccccaatctg tgaagtagct 481 aataatatag aacagaatgc tcaagagaat gaaaatgaaa gccaagtttc aacagatgaa 541 agtgagaact ccaggtctcc tggaaataaa tcagataaca tcaagcccaa atctgctcca 601 tggaactctt ttctccctcc accacccccc atgccagggc caagactggg accaggaaag 661 ccaggtctaa aattcaatgg cccaccaccg ccaccgccac caccaccacc ccacttacta 721 tcatgctggc tgcctccatt tccttctgga ccaccaataa ttcccccacc acctcccata 781 tgtccagatt ctcttgatga tgctgatgct ttgggaagta tgttaatttc atggtacatg 841 agtggctatc atactggcta ttatatgggt ttcagacaaa atcaaaaaga aggaaggtgc 901 tcacattcct taaattaagg agaaatgctg gcatagagca gcactaaatg acaccactaa 961 agaaacgatc agacagatct ggaatgtgaa gcgttataga agataactgg cctcatttct 1021 tcaaaatatc aagtgttggg aaagaaaaaa ggaagtggaa tgggtaactc ttcttgatta 1081 aaagttatgt aataaccaaa tgcaatgtga aatattttac tggactcttt tgaaaaacca 1141 tctgtaaaag actggggtgg gggtgggagg ccagcacggt ggtgaggcag ttgagaaaat 1201 ttgaatgtgg attagatttt gaatgatatt ggataattat tggtaatttt atggcctgtg 1261 agaagggtgt tgtagtttat aaaagactgt cttaatttgc atacttaagc atttaggaat 1321 gaagtgttag agtgtcttaa aatgtttcaa atggtttaac aaaatgtatg tgaggcgtat 1381 gtggcaaaat gttacagaat ctaactggtg gacatggctg ttcattgtac tgtttttttc 1441 tatcttctat atgtttaaaa gtatataata aaaatattta attttttttt a //