OAT

Protein identityUniProt · HPA

UniProt accession

P04181

Gene

OAT

Ensembl

ENSG00000065154

Chromosome

10

Canonical length

439 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Mitochondria

Quaternary structure

Homohexamer

OverviewNCBI Gene

This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010]

Canonical amino-acid sequenceUniProt

439 residues, UniProt reviewed canonical sequence.

>P04181|OAT
     1  MFSKLAHLQR FAVLSRGVHS SVASATSVAT KKTVQGPPTS DDIFEREYKY GAHNYHPLPV
    61  ALERGKGIYL WDVEGRKYFD FLSSYSAVNQ GHCHPKIVNA LKSQVDKLTL TSRAFYNNVL
   121  GEYEEYITKL FNYHKVLPMN TGVEAGETAC KLARKWGYTV KGIQKYKAKI VFAAGNFWGR
   181  TLSAISSSTD PTSYDGFGPF MPGFDIIPYN DLPALERALQ DPNVAAFMVE PIQGEAGVVV
   241  PDPGYLMGVR ELCTRHQVLF IADEIQTGLA RTGRWLAVDY ENVRPDIVLL GKALSGGLYP
   301  VSAVLCDDDI MLTIKPGEHG STYGGNPLGC RVAIAALEVL EEENLAENAD KLGIILRNEL
   361  MKLPSDVVTA VRGKGLLNAI VIKETKDWDA WKVCLRLRDN GLLAKPTHGD IIRFAPPLVI
   421  KEDELRESIE IINKTILSF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OAT can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

736 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OAT.

Disease | AllUniProt

Conditions OAT is implicated in, by any mechanism.

• Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) MIM:258870

Disease | GeneticClinVar

151 pathogenic / likely-pathogenic of 735 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Ornithine aminotransferase deficiency
• Hyperornithinemia
• Retinal dystrophy
• Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia
• Optic atrophy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.96

gnomAD pLI

0

gnomAD missense Z

0.88

DepMap mean gene effect

0.03

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• L-proline biosynthetic process
• visual perception
• L-arginine catabolic process to L-glutamate
• L-arginine catabolic process to proline via ornithine

Molecular functions

• identical protein binding
• pyridoxal phosphate binding
• ornithine aminotransferase activity

Cellular components

• cytoplasm
• mitochondrial matrix
• mitochondrion
• nucleoplasm

Protein domainsUniProt · Pfam · InterPro

• Aminotransferase class-III
• Pyridoxal phosphate-dependent transferase, major domain
• Pyridoxal phosphate-dependent transferase, small domain
• Pyridoxal phosphate-dependent transferase
• Aminotransferases class-III pyridoxal-phosphate attachment site
• Aminotransferase class-III
• Ornithine aminotransferase
• Class-III Pyridoxal-phosphate-dependent Aminotransferase

KeywordsUniProt

• Acetylation
• Aminotransferase
• Mitochondrion
• Pyridoxal phosphate
• Transferase
• Transit peptide