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Details of OAT gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| OAT | --- | P04181 | OAT_HUMAN | 4942 | ENSG00000065154 | Ornithine aminotransferase, mitochondrial Ornithine aminotransferase, hepatic form Ornithine aminotransferase, renal form | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| 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. Note=The disease is caused by mutations affecting the gene represented in this entry. | 258870 | ||||||||
Phenotypes
Abnormality of metabolism/homeostasis, Abnormality of muscle physiology, Abnormality of refraction, Abnormality of the anterior segment of the eye, Abnormality of the eye, Abnormality of the lens, Abnormality of the musculature, Abnormality of vision, All, Autosomal recessive inheritance, Blindness, Cataract, EMG abnormality, Mode of inheritance, Muscle weakness, Myopia, Night blindness, Phenotypic abnormality, Polar cataract, Posterior subcapsular cataract, Proximal muscle weakness, Subcapsular cataract, Visual impairment.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Oat | Oat | C16A3.10 | Sp-Oat | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| OAT | GOT1 | 0.398345705 | OAT | GOT1 | cpx13 | no | no | no | Novel |
| OAT | ALDH1B1 | 0.100423182 | OAT | ALDH1B1 | cpx354 | no | no | no | Novel |
| OAT | PDCD6IP | 0.069472805 | OAT | PDCD6IP | cpx13 | no | no | no | Novel |
| OAT | PGM1 | 0.215361565 | OAT | PGM1 | cpx354 | no | no | yes | Known |
| OAT | PITPNB | 0.071283799 | OAT | PITPNB | cpx13 | no | no | no | Novel |
| OAT | SERPINB5 | 0.066881676 | OAT | SERPINB5 | cpx13 | no | no | no | Novel |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| SOD1 | OAT | 0.116067231 | SOD1 | OAT |
| OAT | AKR1B1 | 0.110880343 | OAT | AKR1B1 |
| OAT | UAP1L1 | 0.28222175 | OAT | UAP1L1 |
| OAT | PPID | 0.137644491 | OAT | PPID |
| EZR | OAT | 0.070823373 | EZR | OAT |
| OAT | SOD2 | 0.070338222 | OAT | SOD2 |
| OAT | PREP | 0.070605397 | OAT | PREP |
| OAT | NME2 | 0.073225889 | OAT | NME2 |
| OAT | CBS | 0.205837532 | OAT | CBS |
| OAT | PDXK | 0.073675386 | OAT | PDXK |
| OAT | UQCRFS1 | 0.15005643 | OAT | UQCRFS1 |
| OAT | NME1-NME2 | 0.071360507 | OAT | NME1-NME2 |
| OAT | ADSS | 0.087979108 | OAT | ADSS |
| OAT | ESD | 0.080919671 | OAT | ESD |