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MGP002148

UniProt Annotations

Entry Information
Gene Nameornithine aminotransferase
Protein EntryOAT_HUMAN
UniProt IDP04181
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P04181-1; Sequence=Displayed; Name=2; IsoId=P04181-2; Sequence=VSP_043085;
Catalytic ActivityL-ornithine + a 2-oxo acid = L-glutamate 5- semialdehyde + an L-amino acid.
CofactorName=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
DiseaseHyperornithinemia 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:0000269|PubMed:1612597, ECO:0000269|PubMed:1737786, ECO:0000269|PubMed:23076989, ECO:0000269|PubMed:2793865, ECO:0000269|PubMed:3375240, ECO:0000269|PubMed:7668253, ECO:0000269|PubMed:7887415}. Note=The disease is caused by mutations affecting the gene represented in this entry.
InteractionP56537:EIF6; NbExp=1; IntAct=EBI-721662, EBI-372243;
PathwayAmino-acid biosynthesis; L-proline biosynthesis; L- glutamate 5-semialdehyde from L-ornithine: step 1/1.
SimilarityBelongs to the class-III pyridoxal-phosphate-dependent aminotransferase family. {ECO:0000305}.
Subcellular LocationMitochondrion matrix {ECO:0000269|PubMed:23076989}.
SubunitHomohexamer. {ECO:0000269|PubMed:23076989}.
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