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Aliases for OAT Gene

Aliases for OAT Gene

  • Ornithine Aminotransferase 2 3 2
  • Ornithine Delta-Aminotransferase 3 4
  • Gyrate Atrophy 2 3
  • EC 4 63
  • GACR 3 6
  • Ornithine Aminotransferase, Mitochondrial 3
  • Ornithine Aminotransferase Precursor 2
  • Ornithine--Oxo-Acid Aminotransferase 4
  • Ornithine-Oxo-Acid Aminotransferase 3
  • EC 2.6.1 63
  • OATASE 3
  • HOGA 3
  • OKT 3

External Ids for OAT Gene

Previous GeneCards Identifiers for OAT Gene

  • GC10M125055
  • GC10M125289
  • GC10M126126
  • GC10M125660
  • GC10M126075
  • GC10M119770

Summaries for OAT Gene

Entrez Gene Summary for OAT 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]

GeneCards Summary for OAT Gene

OAT (Ornithine Aminotransferase) is a Protein Coding gene. Diseases associated with OAT include gyrate atrophy of choroid and retina with or without ornithinemia and eye disease. Among its related pathways are Metabolism and Arginine and proline metabolism. GO annotations related to this gene include pyridoxal phosphate binding.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OAT Gene

Genomics for OAT Gene

Regulatory Elements for OAT Gene

Genomic Location for OAT Gene

124,397,303 bp from pter
124,418,976 bp from pter
21,674 bases
Minus strand

Genomic View for OAT Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for OAT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OAT Gene

Proteins for OAT Gene

  • Protein details for OAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ornithine aminotransferase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • D3DRF0
    • Q16068
    • Q16069
    • Q68CS0
    • Q6IAV9
    • Q9UD03

    Protein attributes for OAT Gene

    439 amino acids
    Molecular mass:
    48535 Da
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homohexamer.

    Three dimensional structures from OCA and Proteopedia for OAT Gene

    Alternative splice isoforms for OAT Gene


neXtProt entry for OAT Gene

Proteomics data for OAT Gene at MOPED

Post-translational modifications for OAT Gene

  • Ubiquitination at Lys49, Lys66, Lys374, and Lys392
  • Modification sites at PhosphoSitePlus

Other Protein References for OAT Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Domains for OAT Gene

Suggested Antigen Peptide Sequences for OAT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.
  • Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with OAT: view

No data available for Gene Families for OAT Gene

Function for OAT Gene

Molecular function for OAT Gene

GENATLAS Biochemistry:
ornithine aminotransferase,proline and ornithine metabolic pathway,mitochondrial matrix
UniProtKB/Swiss-Prot CatalyticActivity:
L-ornithine + a 2-oxo acid = L-glutamate 5-semialdehyde + an L-amino acid

Enzyme Numbers (IUBMB) for OAT Gene

Gene Ontology (GO) - Molecular Function for OAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004587 ornithine-oxo-acid transaminase activity EXP --
GO:0008483 transaminase activity --
GO:0030170 pyridoxal phosphate binding IEA --
genes like me logo Genes that share ontologies with OAT: view
genes like me logo Genes that share phenotypes with OAT: view

Animal Models for OAT Gene

MGI Knock Outs for OAT:

Animal Model Products

miRNA for OAT Gene

miRTarBase miRNAs that target OAT

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OAT

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for OAT Gene

Localization for OAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for OAT Gene

Mitochondrion matrix.

Subcellular locations from

Jensen Localization Image for OAT Gene COMPARTMENTS Subcellular localization image for OAT gene
Compartment Confidence
mitochondrion 5
cytosol 1
extracellular 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for OAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 2793865
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with OAT: view

Pathways for OAT Gene

genes like me logo Genes that share pathways with OAT: view

PCR Array Products

UniProtKB/Swiss-Prot P04181-OAT_HUMAN

  • Pathway: Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-ornithine: step 1/1

Gene Ontology (GO) - Biological Process for OAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception TAS 2793865
GO:0008652 cellular amino acid biosynthetic process TAS --
GO:0034214 protein hexamerization IDA 9514741
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with OAT: view

Compounds for OAT Gene

(4) Drugbank Compounds for OAT Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
  • (S)-2,5-Diaminopentanoate
70-26-8 Target approved, nutraceutical
496-93-5 10176161 Target inhibitor experimental
87980-11-8 7419 Target experimental
Pyridoxal Phosphate
  • Codecarboxylase
54-47-7 1051 Target cofactor nutraceutical

(6) HMDB Compounds for OAT Gene

Compound Synonyms Cas Number PubMed IDs
  • Amfamox
L-Glutamic acid
  • (2S)-2-Aminopentanedioate
  • L-glutamate gamma-semialdehyde
  • (+)-S-Ornithine
Oxoglutaric acid
  • 2-Ketoglutarate

(20) Novoseek inferred chemical compound relationships for OAT Gene

Compound -log(P) Hits PubMed IDs
5-fluoromethylornithine 95.4 9
ornithine 93.3 151
gamma-glutamyl semialdehyde 90.9 3
l-canaline 86.5 5
delta(1)pyrroline-5-carboxylate 80.3 2
genes like me logo Genes that share compounds with OAT: view

Transcripts for OAT Gene

Unigene Clusters for OAT Gene

Ornithine aminotransferase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OAT

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for OAT Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ·
SP1: - - - - - - - - - - -
SP2: - - - -
SP3: - -
SP4: - - - -
SP6: -
SP7: -
SP8: - - - - - - - -
SP9: - - - -
SP10: - - - -
SP11: - - -
SP12: - - -
SP13: -

ExUns: 13c

Relevant External Links for OAT Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for OAT Gene

mRNA expression in normal human tissues for OAT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for OAT Gene

This gene is overexpressed in Fetal gut (10.1), Salivary gland (9.9), Fetal testis (6.2), and Pancreatic juice (6.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for OAT Gene

SOURCE GeneReport for Unigene cluster for OAT Gene Hs.523332

genes like me logo Genes that share expressions with OAT: view

Expression partners for OAT Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for OAT Gene

Orthologs for OAT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for OAT Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia OAT 35
  • 89.6 (n)
  • 93.17 (a)
OAT 36
  • 93 (a)
(Canis familiaris)
Mammalia OAT 35
  • 88 (n)
  • 92.71 (a)
OAT 36
  • 93 (a)
(Mus musculus)
Mammalia Oat 35
  • 84.51 (n)
  • 90.89 (a)
Oat 16
Oat 36
  • 91 (a)
(Pan troglodytes)
Mammalia OAT 35
  • 99.85 (n)
  • 100 (a)
OAT 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Oat 35
  • 83.9 (n)
  • 90.66 (a)
(Monodelphis domestica)
Mammalia OAT 36
  • 88 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 87 (a)
-- 36
  • 80 (a)
(Gallus gallus)
Aves OAT 35
  • 78.44 (n)
  • 85.42 (a)
OAT 36
  • 86 (a)
(Anolis carolinensis)
Reptilia OAT 36
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia oat.1 35
  • 72.06 (n)
  • 80.41 (a)
Str.6824 35
African clawed frog
(Xenopus laevis)
Amphibia oat-prov 35
(Danio rerio)
Actinopterygii oat 35
  • 70.03 (n)
  • 77.46 (a)
oat 36
  • 75 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.242 35
fruit fly
(Drosophila melanogaster)
Insecta CG8782 37
  • 70 (a)
Oat 35
  • 64.49 (n)
  • 71.1 (a)
Oat 36
  • 71 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004793 35
  • 65.68 (n)
  • 72.52 (a)
(Caenorhabditis elegans)
Secernentea C16A3.10a 37
  • 66 (a)
C16A3.10b 37
  • 63 (a)
C16A3.10 35
  • 64.91 (n)
  • 66.67 (a)
C16A3.10 36
  • 64 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER123W 35
  • 54.36 (n)
  • 56.03 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B05247g 35
  • 57.96 (n)
  • 55.28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAR2 35
  • 56.28 (n)
  • 55.28 (a)
CAR2 36
  • 52 (a)
CAR2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons DELTA-OAT 35
  • 55.83 (n)
  • 53 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.21 35
(Oryza sativa)
Liliopsida Os.18830 35
Os03g0643300 35
  • 53.9 (n)
  • 51.81 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12481 35
bread mold
(Neurospora crassa)
Ascomycetes NCU00194 35
  • 57.78 (n)
  • 57.95 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes car2 35
  • 57.54 (n)
  • 57.79 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 68 (a)
Species with no ortholog for OAT:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for OAT Gene

Gene Tree for OAT (if available)
Gene Tree for OAT (if available)

Paralogs for OAT Gene

genes like me logo Genes that share paralogs with OAT: view

No data available for Paralogs for OAT Gene

Variants for OAT Gene

Sequence variations from dbSNP and Humsavar for OAT Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs8182 -- 124,397,407(-) ATTAG(C/T)GTTTA utr-variant-3-prime
rs11461 Benign 124,400,865(-) TTAAA(C/T)GCTAT reference, synonymous-codon
rs1254951 -- 124,413,311(+) ACACA(C/T)ATATG intron-variant
rs1254952 -- 124,415,826(+) TACTG(G/T)GCCAA intron-variant, upstream-variant-2KB
rs1399930 -- 124,409,785(+) AAAGA(A/G)GATAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OAT Gene

Variant ID Type Subtype PubMed ID
nsv832012 CNV Gain+Loss 17160897
nsv825602 CNV Gain 20364138
nsv825603 CNV Gain 20364138

Relevant External Links for OAT Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OAT Gene

Disorders for OAT Gene

(1) OMIM Diseases for OAT Gene (613349)


  • 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 mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for OAT Gene

(12) Novoseek inferred disease relationships for OAT Gene

Disease -log(P) Hits PubMed IDs
gyrate atrophy 98.5 49
ornithine aminotransferase deficiency 96.7 4
hyperammonemia 69.7 6
blindness 46.3 6
eye diseases 41.3 2

Genatlas disease for OAT Gene

hyperornithinemia,with gyrate atrophy of choroid and retina

Relevant External Links for OAT

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with OAT: view

Publications for OAT Gene

  1. Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency. (PMID: 1682785) Ramesh V. … Shih V.E. (Mol. Biol. Med. 1991) 2 3 4 23
  2. Analysis of the human ornithine aminotransferase gene family. (PMID: 2373169) Zintz C.B. … Inana G. (Exp. Eye Res. 1990) 3 4 23
  3. Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V. (PMID: 7887415) Michaud J. … Mitchell G.A. (Am. J. Hum. Genet. 1995) 3 4 23
  4. Crystal structure of human ornithine aminotransferase complexed with the highly specific and potent inhibitor 5-fluoromethylornithine. (PMID: 9878407) Storici P. … Jansonius J.N. (J. Mol. Biol. 1999) 3 4 23
  5. A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor. (PMID: 7668253) Kobayashi T. … Matsuzawa T. (Am. J. Hum. Genet. 1995) 3 4 23

Products for OAT Gene

Sources for OAT Gene

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