InnateDB Protein
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IDBP-603748.3
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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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OAT
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Protein Name
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ornithine aminotransferase
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Synonyms
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GACR; HOGA; OATASE; OKT;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000439042
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InnateDB Gene
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IDBG-92635 (OAT)
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Protein Structure
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Function |
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Subcellular Localization |
Mitochondrion matrix.
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Disease Associations |
Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]: A disorder clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence. {ECO:0000269PubMed:1612597, ECO:0000269PubMed:1737786, ECO:0000269PubMed:2793865, ECO:0000269PubMed:3375240, ECO:0000269PubMed:7668253, ECO:0000269PubMed:7887415}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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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 25 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
25
[view]
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Protein-Protein |
24
[view]
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Protein-DNA |
1
[view]
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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 |
IPR005814
Aminotransferase class-III
IPR010164
Ornithine aminotransferase
IPR015424
Pyridoxal phosphate-dependent transferase
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PFAM |
PF00202
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PRINTS |
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PIRSF |
PIRSF000521
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P04181
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PhosphoSite |
PhosphoSite-P04181
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
4942
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UniGene |
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RefSeq |
NP_001165285
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HUGO |
HGNC:8091
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OMIM |
613349
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CCDS |
CCDS53586
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HPRD |
02021
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IMGT |
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EMBL |
AK296032
AK312561
AK315947
AL445237
BC000964
BC016928
CH471066
CR457045
CR749808
M12267
M14963
M23204
M23205
M29919
M29920
M29921
M29922
M29923
M29924
M29925
M29926
M29927
M88760
S66418
S66421
Y07511
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GenPept |
AAA36386
AAA59956
AAA59957
AAA59958
AAA59959
AAB20297
AAB20298
AAH00964
AAH16928
BAG35458
BAH12241
BAH14318
CAA68809
CAG33326
CAH18668
CAI17293
EAW49271
EAW49272
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