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 //