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Aliases for OAT Gene

Aliases for OAT Gene

  • Ornithine Aminotransferase 2 2 3 5
  • Ornithine Delta-Aminotransferase 3 4
  • Gyrate Atrophy 2 3
  • EC 4 61
  • Ornithine Aminotransferase, Mitochondrial 3
  • Ornithine Aminotransferase Precursor 2
  • Ornithine--Oxo-Acid Aminotransferase 4
  • Ornithine-Oxo-Acid Aminotransferase 3
  • Testicular Tissue Protein Li 130 3
  • EC 2.6.1 61
  • OATASE 3
  • GACR 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 Choroid Disease. Among its related pathways are Metabolism and Arginine and proline metabolism. GO annotations related to this gene include pyridoxal phosphate binding and ornithine-oxo-acid transaminase activity.

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

Enhancers for OAT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F124388 1.1 Ensembl ENCODE 18 +29.8 29814 1.3 ELF3 ZNF48 BRCA1 RAD21 ZNF143 RCOR1 CREM ZNF654 SP3 REST OAT CHST15 LOC105378536
GH10F124412 0.6 ENCODE 16.7 +1.3 1286 10.5 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 FOS ZNF263 SP3 SP5 METTL10 OAT NKX1-2 LOC105378536
GH10F124434 0.4 ENCODE 6 -16.5 -16532 2.8 TFAP4 PKNOX1 SAP130 ZNF384 CEBPG FEZF1 ZNF121 ETV6 NFE2 TRIM24 OAT ZRANB1 OATP1
GH10F124354 1 Ensembl ENCODE 5.8 +64.0 63976 1.6 ARID4B FEZF1 ZNF2 YY1 GLIS2 ZNF143 ZNF263 SP3 SP5 TSHZ1 METTL10 CHST15 OAT LOC105378536
GH10F124424 0.2 ENCODE 0.4 -6.7 -6697 1.4 PKNOX1 GATA3 CEBPA HMG20A BCL6 NKX1-2 CHST15 FAM53B OAT OATP1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around OAT on UCSC Golden Path with GeneCards custom track

Promoters for OAT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000117967 676 2601 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 FOS ZNF263 SP3 SP5

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

Genes around OAT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OAT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for OAT Gene


Post-translational modifications for OAT Gene

  • Ubiquitination at Lys 49, Lys 66, Lys 374, and Lys 392
  • Modification sites at PhosphoSitePlus

Domains & Families 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,IEA 6819292
GO:0008483 transaminase activity IEA --
GO:0016740 transferase activity IEA --
GO:0030170 pyridoxal phosphate binding IEA,IBA --
GO:0042802 identical protein binding IBA --
genes like me logo Genes that share ontologies with OAT: view
genes like me logo Genes that share phenotypes with OAT: view

Human Phenotype Ontology for OAT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for OAT Gene

MGI Knock Outs for OAT:

Animal Model Products

miRNA for OAT Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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
cytoskeleton 1
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:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA,TAS 2793865
GO:0005759 mitochondrial matrix IEA,TAS --
genes like me logo Genes that share ontologies with OAT: view

Pathways & Interactions for OAT Gene

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

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:0010121 arginine catabolic process to proline via ornithine IBA --
GO:0019544 arginine catabolic process to glutamate IBA --
GO:0034214 protein hexamerization IDA 9514741
genes like me logo Genes that share ontologies with OAT: view

No data available for SIGNOR curated interactions for OAT Gene

Drugs & Compounds for OAT Gene

(18) Drugs for OAT Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-ornithine Approved Nutra Full agonist, Agonist, Target 0
Probenecid Approved Pharma Inhibition, Inhibitor 27
Famotidine Approved Pharma Histamine H2-receptor antagonist 59
Canaline Experimental Pharma Target, inhibitor 0
Gabaculine Experimental Pharma Target 0

(13) Additional Compounds for OAT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • L-2-Amino-4-(aminooxy)butyrate
  • L-2-Amino-4-(aminooxy)butyric acid
  • L-a-Amino-g-(aminooxy)-N-butyric acid
  • L-alpha-Amino-gamma-(aminooxy)-N-butyric acid
L-Glutamic gamma-semialdehyde
  • Glutamate-semialdehyde
  • Glutamic gamma-semialdehyde
  • L-Glutamate 5-semialdehyde
  • L-Glutamate-5-semialdehyde
  • L-Glutamate-gamma-semialdehyde
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
genes like me logo Genes that share compounds with OAT: view

Transcripts for OAT Gene

Unigene Clusters for OAT Gene

Ornithine aminotransferase:
Representative Sequences:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and SAGE for OAT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for OAT Gene

Protein tissue co-expression partners for OAT Gene

NURSA nuclear receptor signaling pathways regulating expression of OAT Gene:


SOURCE GeneReport for Unigene cluster for OAT Gene:

genes like me logo Genes that share expression patterns with OAT: view

Primer 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
(Pan troglodytes)
Mammalia OAT 34 35
  • 99.85 (n)
(Bos Taurus)
Mammalia OAT 34 35
  • 89.6 (n)
(Canis familiaris)
Mammalia OAT 34 35
  • 88 (n)
(Monodelphis domestica)
Mammalia OAT 35
  • 88 (a)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 87 (a)
-- 35
  • 80 (a)
(Mus musculus)
Mammalia Oat 34 16 35
  • 84.51 (n)
(Rattus norvegicus)
Mammalia Oat 34
  • 83.9 (n)
(Gallus gallus)
Aves OAT 34 35
  • 78.44 (n)
(Anolis carolinensis)
Reptilia OAT 35
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia oat.1 34
  • 72.06 (n)
Str.6824 34
African clawed frog
(Xenopus laevis)
Amphibia oat-prov 34
(Danio rerio)
Actinopterygii oat 34 35
  • 70.03 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.242 34
fruit fly
(Drosophila melanogaster)
Insecta CG8782 36
  • 70 (a)
Oat 34 35
  • 64.49 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004793 34
  • 65.68 (n)
(Caenorhabditis elegans)
Secernentea C16A3.10a 36
  • 66 (a)
C16A3.10 34 35
  • 64.91 (n)
C16A3.10b 36
  • 63 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B05247g 34
  • 57.96 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAR2 34 35 37
  • 56.28 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER123W 34
  • 54.36 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons DELTA-OAT 34
  • 55.83 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.21 34
(Oryza sativa)
Liliopsida Os03g0643300 34
  • 53.9 (n)
Os.18830 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 68 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00194 34
  • 57.78 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes car2 34
  • 57.54 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12481 34
Species where no ortholog for OAT was found in the sources mined by GeneCards:
  • 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

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
rs11553554 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] 124,412,020(-) GTATG(A/G)TGCAC intron-variant, reference, missense, utr-variant-5-prime
rs121965037 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870], Pathogenic 124,412,009(-) ACAAC(C/T)ACCAT intron-variant, reference, missense, utr-variant-5-prime
rs121965038 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870], Pathogenic 124,408,887(-) GCATT(G/T)TCACC intron-variant, reference, missense, utr-variant-5-prime
rs121965039 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870], Pathogenic 124,408,601(-) AGCTC(A/G/T)TAAGT intron-variant, reference, missense, utr-variant-5-prime
rs121965040 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870], Pathogenic 124,405,545(-) GGGTA(C/G)GACGT reference, missense, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
dgv530n106 CNV deletion 24896259
nsv1069086 CNV deletion 25765185
nsv825602 CNV gain 20364138
nsv825603 CNV gain 20364138
nsv832012 CNV gain+loss 17160897
nsv948214 CNV duplication 23825009
nsv975068 CNV duplication 23825009

Variation tolerance for OAT Gene

Residual Variation Intolerance Score: 39.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OAT Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for OAT Gene

MalaCards: The human disease database

(14) MalaCards diseases for OAT Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
gyrate atrophy of choroid and retina with or without ornithinemia
  • gyrate atrophy of choroid and retina
choroid disease
  • choroid diseases
  • parapsoriasis nos
rheumatic myocarditis
  • active rheumatic fever with myocarditis
cerebral creatine deficiency syndrome 3
  • agat deficiency
- elite association - COSMIC cancer census association via MalaCards
Search OAT in MalaCards View complete list of genes associated with diseases


  • 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.

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 64
  2. 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 22 64
  3. Crystal structure of human recombinant ornithine aminotransferase. (PMID: 9514741) Shen B.W. … Schirmer T. (J. Mol. Biol. 1998) 3 4 22 64
  4. Human ornithine aminotransferase complexed with L-canaline and gabaculine: structural basis for substrate recognition. (PMID: 9309222) Shah S.A. … Brunger A.T. (Structure 1997) 3 4 22 64
  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 22 64

Products for OAT Gene

Sources for OAT Gene

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