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 //