LOCUS       HUMAGXT                 1325 bp    mRNA    linear   HUM 12-SEP-2008
DEFINITION  Homo sapiens AGXT mRNA for alanine:glyoxylate aminotransferase,
            complete cds.
ACCESSION   D13368
VERSION     D13368.1
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 1325)
  AUTHORS   Minatogawa,Y.
  TITLE     Direct Submission
  JOURNAL   Submitted (05-OCT-1992) to the DDBJ/EMBL/GenBank databases.
            Contact:Yohsuke Minatogawa
            Wakayama Medical College, Department of Biochemistry; 9-27,
            Wakayama, Wakayama 640, Japan
REFERENCE   2
  AUTHORS   Takada,Y., Kaneko,N., Esumi,H., Purdue,P.E. and Danpure,C.J.
  TITLE     Human peroxisomal L-alanine:glyoxylate
            aminotransferase:Evolutionary loss of a mitochondrial targeting
            signal by point mutation
  JOURNAL   Biochem. J. 268, 517-520 (1990)
REFERENCE   3
  AUTHORS   Minatogawa,Y., Tone,S., Allsop,J., Purdue,E.P., Takada,Y.,
            Danpure,C.J. and Kido,R.
  TITLE     A serine-to-phenylalanine substitution leads to loss of alanine:
            glyoxylate aminotransferase catalytic activity and
            immunoreactivity in a patient with primary hyperoxaluria type 1
  JOURNAL   Hum. Mol. Genet. 1, 643-644 (1992)
COMMENT     
FEATURES             Location/Qualifiers
     source          1..1325
                     /chromosome="2"
                     /clone="P2-3, P2-7"
                     /db_xref="H-InvDB:HIT000100497"
                     /db_xref="taxon:9606"
                     /isolate="Patient 2"
                     /map="2q36-q37"
                     /mol_type="mRNA"
                     /note="patient of primary hyperoxaluria type 1"
                     /organism="Homo sapiens"
                     /tissue_type="liver"
     CDS             109..1287
                     /codon_start=1
                     /EC_number="2.6.1.44"
                     /gene="AGXT"
                     /product="alanine:glyoxylate aminotransferase"
                     /protein_id="BAA02632.1"
                     /translation="MASHKLLVTPPKALLKPLSIPNQLLLGPGPSNLPPRIMAAGGLQ
                     MIGSMSKDMYQIMDEIKEGIQYVFQTRNPLTLVISGSGHCALEAALVNVLEPGDSFLV
                     GANGIWGQRAVDIGERIGARVHPMTKDPGGHYTLQEVEEGLAQHKPVLLFLTHGESST
                     GVLQPLDGFGELCHRYKCLLLVDSVAFLGGTPLYMDRQGIDILYSGSQKALNAPPGTS
                     LISFSDKAKKKMYSRKTKPFSFYLDIKWLANFWGCDDQPRMYHHTIPVISLYSLRESL
                     ALIAEQGLENSWRQHREAAAYLHGRLQALGLQLFVKDPALRLPTVTTVAVPAGYDWRD
                     IVSYVIDHFDIEIMGGLGPSTGKVLRIGLLGCNATRENVDRVTEALRAALQHCPKKKL
                     "
     variation       668
                     /citation=[2]
                     /replace="c"
BASE COUNT          257 a          436 c          395 g          237 t
ORIGIN      
        1 accaatcctc acctctcacc tctgtgtccg ccctgctggg aaatattcca ggctttggcc
       61 aaggccagtg cagccccagg ttcccgagcg gcaggttggg tgcggaccat ggcctctcac
      121 aagctgctgg tgaccccccc caaggccctg ctcaagcccc tctccatccc caaccagctc
      181 ctgctggggc ctggtccttc caacctgcct cctcgcatca tggcagccgg ggggctgcag
      241 atgatcgggt ccatgagcaa ggatatgtac cagatcatgg acgagatcaa ggaaggcatc
      301 cagtacgtgt tccagaccag gaacccactc acactggtca tctctggctc gggacactgt
      361 gccctggagg ccgccctggt caatgtgctg gagcctgggg actccttcct ggttggggcc
      421 aatggcattt gggggcagcg agccgtggac atcggggagc gcataggagc ccgagtgcac
      481 ccgatgacca aggaccctgg aggccactac acactgcagg aggtggagga gggcctggcc
      541 cagcacaagc cagtgctgct gttcttaacc cacggggagt cgtccaccgg cgtgctgcag
      601 ccccttgatg gcttcgggga actctgccac aggtacaagt gcctgctcct ggtggattcg
      661 gtggcattcc tgggcgggac ccccctttac atggaccggc aaggcatcga catcctgtac
      721 tcgggctccc agaaggccct gaacgcccct ccagggacct cgctcatctc cttcagtgac
      781 aaggccaaaa agaagatgta ctcccgcaag acgaagccct tctccttcta cctggacatc
      841 aagtggctgg ccaacttctg gggctgtgac gaccagccca ggatgtacca tcacacaatc
      901 cccgtcatca gcctgtacag cctgagagag agcctggccc tcattgcgga acagggcctg
      961 gagaacagct ggcgccagca ccgcgaggcc gcggcgtatc tgcatgggcg cctgcaggca
     1021 ctggggctgc agctcttcgt gaaggacccg gcgctccggc ttcccacagt caccactgtg
     1081 gctgtacccg ctggctatga ctggagagac atcgtcagct acgtcataga ccacttcgac
     1141 attgagatca tgggtggcct tgggccctcc acggggaagg tgctgcggat cggcctgctg
     1201 ggctgcaatg ccacccgcga gaatgtggac cgcgtgacgg aggccctgag ggcggccctg
     1261 cagcactgcc ccaagaagaa gctgtgacct gcccactggc acacagctgg cactggcaca
     1321 cacct
//