InnateDB Protein
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IDBP-84954.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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AGXT
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Protein Name
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alanine-glyoxylate aminotransferase
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Synonyms
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AGT; AGT1; AGXT1; PH1; SPAT; SPT; TLH6;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000302620
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InnateDB Gene
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IDBG-84952 (AGXT)
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Protein Structure
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Function |
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Subcellular Localization |
Peroxisome. Mitochondrion matrix. Note=Except in some HP1 patients where AGT is found in the mitochondrial matrix.
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Disease Associations |
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:0000269PubMed:10394939, ECO:0000269PubMed:10453743, ECO:0000269PubMed:10541294, ECO:0000269PubMed:10862087, ECO:0000269PubMed:12559847, ECO:0000269PubMed:1301173, ECO:0000269PubMed:1349575, ECO:0000269PubMed:15253729, ECO:0000269PubMed:15849466, ECO:0000269PubMed:15961946, ECO:0000269PubMed:15963748, ECO:0000269PubMed:1703535, ECO:0000269PubMed:2039493, ECO:0000269PubMed:8101040, ECO:0000269PubMed:9192270, ECO:0000269PubMed:9604803}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Liver.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
5
[view]
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Protein-Protein |
5
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000192
Aminotransferase class V domain
IPR015424
Pyridoxal phosphate-dependent transferase
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PFAM |
PF00266
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P21549
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PhosphoSite |
PhosphoSite-P21549
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
189
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UniGene |
Hs.144567
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RefSeq |
NP_000021
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HUGO |
HGNC:341
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OMIM |
604285
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CCDS |
CCDS2543
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HPRD |
05048
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IMGT |
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EMBL |
AC104809
AK292754
BC132819
CH471063
D13368
M61763
X53414
X56092
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GenPept |
AAA51680
AAI32820
AAY24168
BAA02632
BAF85443
CAA37493
CAA39572
EAW71222
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