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UniProt functional annotation for P04181 | ||
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| UniProt code: P04181. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Catalytic activity: | |
Reaction=a 2-oxocarboxylate + L-ornithine = an L-alpha-amino acid + L- glutamate 5-semialdehyde; Xref=Rhea:RHEA:13877, ChEBI:CHEBI:35179, ChEBI:CHEBI:46911, ChEBI:CHEBI:58066, ChEBI:CHEBI:59869; EC=2.6.1.13; |
| Cofactor: | |
Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326; Evidence={ECO:0000269|PubMed:9514741}; |
| Pathway: | |
Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-ornithine: step 1/1. |
| Subunit: | |
Homohexamer. {ECO:0000269|PubMed:23076989}. |
| Subcellular location: | |
Mitochondrion matrix {ECO:0000269|PubMed:23076989}. |
| Disease: | |
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: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 variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.