From: GenBank-Updates@net.bio.net
Newsgroups: bionet.molbio.genbank.updates
Subject: Human mRNA for alanine:glyoxylate aminotransferase, complete cds.
Date: 29 Jan 93 05:45:52 GMT
Distribution: bionet
Checksum: 62452 5

LOCUS       HUMAGXT      1325 bp ss-mRNA            PRI       29-JAN-1993
DEFINITION  Human mRNA for alanine:glyoxylate aminotransferase, complete cds.
ACCESSION   D13368
KEYWORDS    alanine:glyoxylate aminotransferase.
SOURCE      Homo sapiens (individual_isolate Patient 2 of primary hyperoxaluria
            type 1) liver cDNA to mRNA, clones P2-3 and P2-7.
  ORGANISM  Homo sapiens
            Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia;
            Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE   1  (sites)
  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)
  STANDARD  full automatic
REFERENCE   2  (sites)
  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. Gen. 1, 643-644 (1992)
  STANDARD  full automatic
REFERENCE   3  (bases 1 to 1325)
  AUTHORS   Minatogawa,Y.
  JOURNAL   Unpublished (2048)
  STANDARD  full automatic
COMMENT     Submitted (05-Oct-1992) to DDBJ by: Yohsuke Minatogawa Department
            of Biochemistry Wakayama Medical College 9-27 Wakayama Wakayama 640
            Japan Phone:  0734-26-8316 Fax:    0734-23-7794.
FEATURES             Location/Qualifiers
     mutation        668
                     /citation=[1]
                     /note="replace(668,'c')"
     CDS             109..1287
                     /EC_number="2.6.1.44"
                     /gene="AGXT"
                     /product="alanine:glyoxylate aminotransferase"
                     /codon_start=1
                     /translation="MASHKLLVTPPKALLKPLSIPNQLLLGPGPSNLPPRIMAAGGLQ
                     MIGSMSKDMYQIMDEIKEGIQYVFQTRNPLTLVISGSGHCALEAALVNVLEPGDSFLV
                     GANGIWGQRAVDIGERIGARVHPMTKDPGGHYTLQEVEEGLAQHKPVLLFLTHGESST
                     GVLQPLDGFGELCHRYKCLLLVDSVAFLGGTPLYMDRQGIDILYSGSQKALNAPPGTS
                     LISFSDKAKKKMYSRKTKPFSFYLDIKWLANFWGCDDQPRMYHHTIPVISLYSLRESL
                     ALIAEQGLENSWRQHREAAAYLHGRLQALGLQLFVKDPALRLPTVTTVAVPAGYDWRD
                     IVSYVIDHFDIEIMGGLGPSTGKVLRIGLLGCNATRENVDRVTEALRAALQHCPKKKL
                     "
BASE COUNT      257 a    436 c    395 g    237 t
ORIGIN      Chromosome 2q36-37.
        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
//