Protein basic information
| LiverAtlas Protein ID |
HuLPr46145 |
|
Uniprot ID |
|
|
Uniprot Acc |
P21549;Q53QU6; |
|
Protein name |
Serine--pyruvate aminotransferase |
|
Comment |
CATALYTIC ACTIVITY:L-serine + pyruvate = 3-hydroxypyruvate + L- alanine.||CATALYTIC ACTIVITY:L-alanine + glyoxylate = pyruvate + glycine.||COFACTOR:Pyridoxal phosphate.||SUBUNIT:Homodimer.||SUBCELLULAR LOCATION:Peroxisome. Mitochondrion matrix. Note=Except in some HP1 patients where AGT is found in the mitochondrial matrix.||TISSUE SPECIFICITY:Liver.||POLYMORPHISM:Polymorphism at position 11 acts synergistically with different mutations in AGXT producing specific enzymic phenotypes in HP1 patients. The combined presence of Leu-11 and Met-340 polymorphisms defines the minor AGXT allele, whereas their absence defines the major allele. The minor allele has frequencies of 20% in normal European and North American populations, and 50% in HP1 patients.||DISEASE:Defects in AGXT are the cause of hyperoxaluria primary type 1 (HP1) [MIM:259900]; also known as primary hyperoxaluria type I (PH1) and oxalosis I. HP1 is a rare autosomal recessive inborn error of glyoxylate metabolism characterized b |
|
Subcellular localization |
Peroxisome.Mitochondrion matrix. |
|
Gene name |
|
|
Related liver disease name |
|
|
Protein sequence
|
MASHKLLVTPPKALLKPLSIPNQLLLGPGPSNLPPRIMAA GGLQMIGSMSKDMYQIMDEIKEGIQYVFQTRNPLTLVIS GSGHCALEAALVNVLEPGDSFLVGANGIWGQRAVDIGER IGARVHPMTKDPGGHYTLQEVEEGLAQHKPVLLFLTHGE SSTGVLQPLDGFGELCHRYKCLLLVDSVASLGGTPLYMD RQGIDILYSGSQKALNAPPGTSLISFSDKAKKKMYSRKT KPFSFYLDIKWLANFWGCDDQPRMYHHTIPVISLYSLRE SLALIAEQGLENSWRQHREAAAYLHGRLQALGLQLFVKD PALRLPTVTTVAVPAGYDWRDIVSYVIDHFDIEIMGGLG PSTGKVLRIGLLGCNATRENVDRVTEALRAALQHCPKKKL |
|
Database cross reference |
RefSeq Protein accession:NP_000021
|
Liver relevance
| Liver sepcificity |
Yes/No |
Yes |
|
Evidence |
BodyMap |
|
|
Quality score |
|
|
|
HCC significant Proteins |
Yes/No |
Yes |
|
Quality score |
|
|
|
HLPP validation |
Yes/No |
Yes |
|
Project name |
Chinese Liver;French Liver;Human Fetal Liver;Human Liver Organelles; |
Ontology annotation
| GO-C |
GO:0005759;C:mitochondrial matrix;IEA:UniProtKB-SubCell. GO:0005782;C:peroxisomal matrix;TAS:Reactome. |
|
GO-F |
GO:0008453;F:alanine-glyoxylate transaminase activity;TAS:HGNC. GO:0042803;F:protein homodimerization activity;IDA:HGNC. GO:0030170;F:pyridoxal phosphate binding;IMP:HGNC. GO:0004760;F:serine-pyruvat |