LOCUS       AY208752                1125 bp    mRNA    linear   HUM 16-OCT-2003
DEFINITION  Homo sapiens C-alpha-formyglycine-generating enzyme mRNA, complete
            cds.
ACCESSION   AY208752
VERSION     AY208752.1
KEYWORDS    .
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 1125)
  AUTHORS   Dierks,T., Schmidt,B., Borissenko,L.V., Peng,J., Preusser,A.,
            Mariappan,M. and von Figura,K.
  TITLE     Multiple sulfatase deficiency is caused by mutations in the gene
            encoding the human C(alpha)-formylglycine generating enzyme
  JOURNAL   Cell 113 (4), 435-444 (2003)
   PUBMED   12757705
REFERENCE   2  (bases 1 to 1125)
  AUTHORS   Dierks,T., Schmidt,B., Borissenko,L., Peng,J., Preusser,A.,
            Mariappan,M. and von Figura,K.
  TITLE     Direct Submission
  JOURNAL   Submitted (29-DEC-2002) Biochemie II, University of Goettingen,
            Heinrich-Dueker-Weg 12, Goettingen 37073, Germany
FEATURES             Location/Qualifiers
     source          1..1125
                     /db_xref="H-InvDB:HIT000085273"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p26"
     CDS             1..1125
                     /function="generates a C-alpha-formylglycine residue from
                     a conserved cysteine in sulfatases"
                     /note="FGE; localized in the endoplasmic reticulum;
                     similar to the Homo sapiens product encoded by GenBank
                     Accession Number AK075459"
                     /codon_start=1
                     /product="C-alpha-formyglycine-generating enzyme"
                     /protein_id="AAO34683.1"
                     /translation="MAAPALGLVCGRCPELGLVLLLLLLSLLCGAAGSQEAGTGAGAG
                     SLAGSCGCGTPQRPGAHGSSAAAHRYSREANAPGPVPGERQLAHSKMVPIPAGVFTMG
                     TDDPQIKQDGEAPARRVTIDAFYMDAYEVSNTEFEKFVNSTGYLTEAEKFGDSFVFEG
                     MLSEQVKTNIQQAVAAAPWWLPVKGANWRHPEGPDSTILHRPDHPVLHVSWNDAVAYC
                     TWAGKRLPTEAEWEYSCRGGLHNRLFPWGNKLQPKGQHYANIWQGEFPVTNTGEDGFQ
                     GTAPVDAFPPNGYGLYNIVGNAWEWTSDWWTVHHSVEETLNPKGPPSGKDRVKKGGSY
                     MCHRSYCYRYRCAARSQNTPDSSASNLGFRCAADRLPTMD"
     variation       188
                     /note="polymorphism; Ser63 to Asn substitution"
                     /replace="a"
     variation       1116
                     /note="silent polymorphism"
                     /replace="t"
BASE COUNT          242 a          293 c          337 g          253 t
ORIGIN      
        1 atggctgcgc ccgcactagg gctggtgtgt ggacgttgcc ctgagctggg tctcgtcctc
       61 ttgctgctgc tgctctcgct gctgtgtgga gcggcaggga gccaggaggc cgggaccggt
      121 gcgggcgcgg ggtcccttgc gggttcttgc ggctgcggca cgccccagcg gcctggcgcc
      181 catggcagtt cggcagccgc tcaccgatac tcgcgggagg ctaacgctcc gggccccgta
      241 cccggagagc ggcaactcgc gcactcaaag atggtcccca tccctgctgg agtatttaca
      301 atgggcacag atgatcctca gataaagcag gatggggaag cacctgcgag gagagttact
      361 attgatgcct tttacatgga tgcctatgaa gtcagtaata ctgaatttga gaagtttgtg
      421 aactcaactg gctatttgac agaggctgag aagtttggcg actcctttgt ctttgaaggc
      481 atgttgagtg agcaagtgaa gaccaatatt caacaggcag ttgcagctgc tccctggtgg
      541 ttacctgtga aaggcgctaa ctggagacac ccagaagggc ctgactctac tattctgcac
      601 aggccggatc atccagttct ccatgtgtcc tggaatgatg cggttgccta ctgcacttgg
      661 gcagggaagc ggctgcccac ggaagctgag tgggaataca gctgtcgagg aggcctgcat
      721 aatagacttt tcccctgggg caacaaactg cagcccaaag gccagcatta tgccaacatt
      781 tggcagggcg agtttccggt gaccaacact ggtgaggatg gcttccaagg aactgcgcct
      841 gttgatgcct tccctcccaa tggttatggc ttatacaaca tagtggggaa cgcatgggaa
      901 tggacttcag actggtggac tgttcatcat tctgttgaag aaacgcttaa cccaaaaggt
      961 cccccttctg ggaaagaccg agtgaagaaa ggtggatcct acatgtgcca taggtcttat
     1021 tgttacaggt atcgctgtgc tgctcggagc cagaacacac ctgatagctc tgcttcgaat
     1081 ctgggattcc gctgtgcagc cgaccgcctg cccaccatgg actga
//