Entity Details

Primary name OAT_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP04181
EntryNameOAT_HUMAN
FullNameOrnithine aminotransferase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length439
SequenceStatuscomplete
DateCreated1987-03-20
DateModified2021-06-02

Ontological Relatives

GenesOAT

GO terms

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GOName
GO:0004587 ornithine-oxo-acid transaminase activity
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0007601 visual perception
GO:0009064 glutamine family amino acid metabolic process
GO:0010121 arginine catabolic process to proline via ornithine
GO:0019544 arginine catabolic process to glutamate
GO:0030170 pyridoxal phosphate binding
GO:0042802 identical protein binding
GO:0050155 ornithine(lysine) transaminase activity
GO:0055129 L-proline biosynthetic process

Subcellular Location

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Subcellular Location
Mitochondrion matrix

Domains

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DomainNameCategoryType
IPR005814 Aminotransferase class-IIIFamilyFamily
IPR010164 Ornithine aminotransferaseFamilyFamily
IPR015421 Pyridoxal phosphate-dependent transferase, major domainFamilyHomologous superfamily
IPR015422 Pyridoxal phosphate-dependent transferase, small domainFamilyHomologous superfamily
IPR015424 Pyridoxal phosphate-dependent transferaseFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
258870 OMIMHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00114 Pyridoxal phosphateDrugbanksmall molecule
DB00129 OrnithineDrugbanksmall molecule
DB02054 GabaculineDrugbanksmall molecule
DB02821 CanalineDrugbanksmall molecule