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
//