AGXT
entrez
189
canonical
uniprot
P21549
canonical
ensembl
ENSG00000172482
resolver
ensp
ENSP00000302620
resolver
enst
ENST00000307503
resolver
genesymbol
AGXT
resolver
genesymbol_syn
AGT1
resolver
genesymbol_syn
SPAT
resolver
hgnc
HGNC:341
resolver
uniprot
Q53QU6
resolver
uniprot_entry
AGT1_HUMAN
resolver
uniprot_sec
Q53QU6
resolver
activity_regulation
ACTIVITY REGULATION: Alanine--glyoxylate aminotransferase activity is inhibited by 1 mM (aminooxy)acetic acid by 97.5%. {ECO:0000269|PubMed:10960483}.
uniprot
proteins
amino_acid_sequence
MASHKLLVTPPKALLKPLSIPNQLLLGPGPSNLPPRIMAAGGLQMIGSMSKDMYQIMDEIKEGIQYVFQTRNPLTLVISGSGHCALEAALVNVLEPGDSFLVGANGIWGQRAVDIGERIGARVHPMTKDPGGHYTLQEVEEGLAQHKPVLLFLTHGESSTGVLQPLDGFGELCHRYKCLLLVDSVASLGGTPLYMDRQGIDILYSGSQKALNAPPGTSLISFSDKAKKKMYSRKTKPFSFYLDIKWLANFWGCDDQPRMYHHTIPVISLYSLRESLALIAEQGLENSWRQHREAAAYLHGRLQALGLQLFVKDPALRLPTVTTVAVPAGYDWRDIVSYVIDHFDIEIMGGLGPSTGKVLRIGLLGCNATRENVDRVTEALRAALQHCPKKKL
uniprot
proteins
disease_involvement
DISEASE: Hyperoxaluria primary 1 (HP1) [MIM:259900]: An inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and progressive tissue accumulation of insoluble calcium oxalate. Affected individuals are at risk for nephrolithiasis, nephrocalcinosis and early onset end-stage renal disease. {ECO:0000269|PubMed:10394939, ECO:0000269|PubMed:10453743, ECO:0000269|PubMed:10541294, ECO:0000269|PubMed:10862087, ECO:0000269|PubMed:10960483, ECO:0000269|PubMed:12559847, ECO:0000269|PubMed:12777626, ECO:0000269|PubMed:1301173, ECO:0000269|PubMed:1349575, ECO:0000269|PubMed:15253729, ECO:0000269|PubMed:15849466, ECO:0000269|PubMed:15961946, ECO:0000269|PubMed:15963748, ECO:0000269|PubMed:16971151, ECO:0000269|PubMed:1703535, ECO:0000269|PubMed:17495019, ECO:0000269|PubMed:2039493, ECO:0000269|PubMed:23229545, ECO:0000269|PubMed:24055001, ECO:0000269|PubMed:24934730, ECO:0000269|PubMed:26149463, ECO:0000269|PubMed:8101040, ECO:0000269|PubMed:9192270, ECO:0000269|PubMed:9604803}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.6.1.44
uniprot
proteins
ec_number
2.6.1.51
uniprot
proteins
function
FUNCTION: Peroxisomal aminotransferase that catalyzes the transamination of glyoxylate to glycine and contributes to the glyoxylate detoxification (PubMed:10960483, PubMed:12777626, PubMed:23229545, PubMed:24055001, PubMed:26149463). Also catalyzes the transamination between L-serine and pyruvate and contributes to gluconeogenesis from the L-serine metabolism (PubMed:10347152). {ECO:0000269|PubMed:10347152, ECO:0000269|PubMed:10960483, ECO:0000269|PubMed:12777626, ECO:0000269|PubMed:23229545, ECO:0000269|PubMed:24055001, ECO:0000269|PubMed:26149463}.
uniprot
proteins
mass_dalton
43010
uniprot
proteins
mutagenesis
MUTAGEN 209; /note="K->R: Affects pyridoxal phosphate binding; loss of alanine--glyoxylate aminotransferase activity."; /evidence="ECO:0000269|PubMed:10960483, ECO:0000269|PubMed:16971151
uniprot
proteins
protein_family
Class-V pyridoxal-phosphate-dependent aminotransferase family
uniprot
proteins
pubmed
10347152
uniprot
proteins
pubmed
10394939
uniprot
proteins
pubmed
10453743
uniprot
proteins
pubmed
10541294
uniprot
proteins
pubmed
10862087
uniprot
proteins
pubmed
10960483
uniprot
proteins
pubmed
12559847
uniprot
proteins
pubmed
12777626
uniprot
proteins
pubmed
12899834
uniprot
proteins
pubmed
1301173
uniprot
proteins
pubmed
1349575
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15253729
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15849466
uniprot
proteins
pubmed
15961946
uniprot
proteins
pubmed
15963748
uniprot
proteins
pubmed
16971151
uniprot
proteins
pubmed
1703535
uniprot
proteins
pubmed
17495019
uniprot
proteins
pubmed
2039493
uniprot
proteins
pubmed
2045108
uniprot
proteins
pubmed
2253628
uniprot
proteins
pubmed
23229545
uniprot
proteins
pubmed
2363689
uniprot
proteins
pubmed
24055001
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24934730
uniprot
proteins
pubmed
26149463
uniprot
proteins
pubmed
8101040
uniprot
proteins
pubmed
8507692
uniprot
proteins
pubmed
9192270
uniprot
proteins
pubmed
9604803
uniprot
proteins
sequence_length
392
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Peroxisome {ECO:0000269|PubMed:10960483, ECO:0000269|PubMed:12777626, ECO:0000269|PubMed:1703535, ECO:0000269|PubMed:23229545, ECO:0000269|PubMed:24055001, ECO:0000269|PubMed:26149463}.
uniprot
proteins