OAT
entrez
4942
canonical
uniprot
P04181
canonical
ensembl
ENSG00000065154
resolver
ensp
ENSP00000357838
resolver
ensp
ENSP00000439042
resolver
ensp
ENSP00000528890
resolver
ensp
ENSP00000528892
resolver
ensp
ENSP00000528895
resolver
ensp
ENSP00000591374
resolver
ensp
ENSP00000769294
resolver
genesymbol
OAT
resolver
hgnc
HGNC:8091
resolver
uniprot
A0A140VJQ4
resolver
uniprot
D3DRF0
resolver
uniprot
Q16068
resolver
uniprot
Q16069
resolver
uniprot
Q68CS0
resolver
uniprot
Q6IAV9
resolver
uniprot
Q9UD03
resolver
uniprot_entry
A0A140VJQ4_HUMAN
resolver
uniprot_entry
OAT_HUMAN
resolver
uniprot_sec
D3DRF0
resolver
uniprot_sec
Q16068
resolver
uniprot_sec
Q16069
resolver
uniprot_sec
Q68CS0
resolver
uniprot_sec
Q6IAV9
resolver
uniprot_sec
Q9UD03
resolver
amino_acid_sequence
MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPVALERGKGIYLWDVEGRKYFDFLSSYSAVNQGHCHPKIVNALKSQVDKLTLTSRAFYNNVLGEYEEYITKLFNYHKVLPMNTGVEAGETACKLARKWGYTVKGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVVPDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHGSTYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDNGLLAKPTHGDIIRFAPPLVIKEDELRESIEIINKTILSF
uniprot
proteins
disease_involvement
DISEASE: Gyrate atrophy of choroid and retina (GACR) [MIM:258870]: An autosomal recessive 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.
uniprot
proteins
ec_number
2.6.1.13
uniprot
proteins
function
FUNCTION: Catalyzes the reversible interconversion of L-ornithine and 2-oxoglutarate to L-glutamate semialdehyde and L-glutamate. {ECO:0000269|PubMed:1737786, ECO:0000269|PubMed:23076989}.
uniprot
proteins
mass_dalton
48535
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-ornithine: step 1/1. {ECO:0000305|PubMed:1737786, ECO:0000305|PubMed:23076989}.
uniprot
proteins
protein_family
Class-III pyridoxal-phosphate-dependent aminotransferase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1612597
uniprot
proteins
pubmed
1682785
uniprot
proteins
pubmed
1737786
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23076989
uniprot
proteins
pubmed
2373169
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2507357
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
2793865
uniprot
proteins
pubmed
3170546
uniprot
proteins
pubmed
3375240
uniprot
proteins
pubmed
3456579
uniprot
proteins
pubmed
3754226
uniprot
proteins
pubmed
3816496
uniprot
proteins
pubmed
7668253
uniprot
proteins
pubmed
7887415
uniprot
proteins
pubmed
9309222
uniprot
proteins
pubmed
9514741
uniprot
proteins
pubmed
9878407
uniprot
proteins
sequence_length
439
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:23076989}.
uniprot
proteins