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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 56
  • 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 56
  • 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 and Choroid Disease. Among its related pathways are Viral mRNA Translation and Metabolism. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and ornithine-oxo-acid transaminase activity.

Additional gene information for OAT Gene

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

Genomics for OAT Gene

GeneHancer (GH) Regulatory Elements for OAT Gene

Promoters and enhancers for OAT Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I124412 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 566.7 +1.3 1285 10.5 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B OAT NKX1-2 EEF1AKMT2 LOC105378536
GH10I124413 Promoter 0.5 EPDnew 550.4 +6.9 6893 0.1 OAT NKX1-2 LOC105378536
GH10I124388 Enhancer 1 Ensembl ENCODE 18 +29.8 29814 1.3 ELF3 RB1 BRCA1 ZNF48 RAD21 ZNF335 EGR1 ZNF143 RCOR1 CREM OAT CHST15 LOC105378536
GH10I124354 Enhancer 1.1 Ensembl ENCODE 5.8 +64.0 63962 1.5 ARID4B FEZF1 ZNF2 YY1 TCF12 GLIS2 ZNF213 ZNF143 ATF7 SP3 EEF1AKMT2 CHST15 OAT LOC105378536
GH10I124434 Enhancer 0.9 ENCODE dbSUPER 6 -16.5 -16531 2.8 PKNOX1 TFAP4 FOXA2 SAP130 ZNF384 CEBPG FEZF1 ZNF121 ATF7 ETV6 OAT ZRANB1 OATP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around OAT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OAT gene promoter:

Genomic Locations for OAT Gene

Genomic Locations for OAT Gene
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 isoforms=49, isoforms=66, isoforms=2374, and Lys392
  • Modification sites at PhosphoSitePlus

Domains & Families for OAT Gene

Gene Families for OAT Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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

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

Phenotypes From GWAS Catalog 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 6819292
GO:0008483 transaminase activity IEA --
GO:0016740 transferase activity IEA --
GO:0030170 pyridoxal phosphate binding 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

Clone 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OAT gene
Compartment Confidence
mitochondrion 5
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA,TAS --
GO:0005759 mitochondrial matrix NAS,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:0034214 protein hexamerization IDA 9514741
GO:0055129 L-proline biosynthetic process IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ornithine Approved Nutra Target 70
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 17
Probenecid Approved, Investigational Pharma Inhibition, Inhibitor 35
Famotidine Approved Pharma Histamine H2-receptor antagonist 64
Glutamic Acid Approved Nutra Full agonist, Agonist 251

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

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:

Clone 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 CGAP 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:


Evidence on tissue expression from TISSUES for OAT Gene

  • Nervous system(5)
  • Kidney(4.7)
  • Liver(4.6)
  • Skin(3.8)
  • Blood(3.4)
  • Eye(2.9)
  • Intestine(2.7)
  • Bone marrow(2.6)
  • Lymph node(2.5)
  • Lung(2.4)
  • Spleen(2.2)
  • Stomach(2.1)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for OAT Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • lower limb
  • upper limb
  • peripheral nervous system
genes like me logo Genes that share expression patterns with OAT: view

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 33 34
  • 99.85 (n)
(Bos Taurus)
Mammalia OAT 33 34
  • 89.6 (n)
(Canis familiaris)
Mammalia OAT 33 34
  • 88 (n)
(Monodelphis domestica)
Mammalia OAT 34
  • 88 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 87 (a)
-- 34
  • 80 (a)
(Mus musculus)
Mammalia Oat 33 16 34
  • 84.51 (n)
(Rattus norvegicus)
Mammalia Oat 33
  • 83.9 (n)
(Gallus gallus)
Aves OAT 33 34
  • 78.44 (n)
(Anolis carolinensis)
Reptilia OAT 34
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia oat.1 33
  • 72.06 (n)
Str.6824 33
African clawed frog
(Xenopus laevis)
Amphibia oat-prov 33
(Danio rerio)
Actinopterygii oat 33 34
  • 70.03 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.242 33
fruit fly
(Drosophila melanogaster)
Insecta CG8782 35
  • 70 (a)
Oat 33 34
  • 64.49 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004793 33
  • 65.68 (n)
(Caenorhabditis elegans)
Secernentea C16A3.10a 35
  • 66 (a)
C16A3.10 33 34
  • 64.91 (n)
C16A3.10b 35
  • 63 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B05247g 33
  • 57.96 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAR2 33 34 36
  • 56.28 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER123W 33
  • 54.36 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons DELTA-OAT 33
  • 55.83 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.21 33
(Oryza sativa)
Liliopsida Os03g0643300 33
  • 53.9 (n)
Os.18830 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 68 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00194 33
  • 57.78 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes car2 33
  • 57.54 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12481 33
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 Variation AA Info Type
rs1008514789 uncertain-significance, Ornithine aminotransferase deficiency 124,418,947(-) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1056539836 uncertain-significance, Ornithine aminotransferase deficiency 124,397,753(-) T/C 3_prime_UTR_variant
rs1057518927 likely-pathogenic, Abnormality of the choroid, Optic atrophy, Pain, Visual field defect 124,402,952(-) T/C coding_sequence_variant, missense_variant
rs11461 benign, OAT POLYMORPHISM, Ornithine aminotransferase deficiency 124,400,865(-) G/A coding_sequence_variant, synonymous_variant
rs11553554 Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] 124,412,020(-) C/T 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant

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)

Additional Variant Information for OAT Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for OAT Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
gyrate atrophy of choroid and retina
  • gacr
choroid disease
  • abnormality of the choroid
  • digitate dermatosis
norrie disease
  • nd
cerebral creatine deficiency syndrome 3
  • ccds3
- 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

Additional Disease Information for OAT

Genetic Association Database
Human Genome Epidemiology 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 VE (Molecular biology & medicine 1991) 2 3 4 22 58
  2. Crystal structure of human ornithine aminotransferase complexed with the highly specific and potent inhibitor 5-fluoromethylornithine. (PMID: 9878407) Storici P … Jansonius JN (Journal of molecular biology 1999) 3 4 22 58
  3. Crystal structure of human recombinant ornithine aminotransferase. (PMID: 9514741) Shen BW … Schirmer T (Journal of molecular biology 1998) 3 4 22 58
  4. Human ornithine aminotransferase complexed with L-canaline and gabaculine: structural basis for substrate recognition. (PMID: 9309222) Shah SA … Brünger AT (Structure (London, England : 1993) 1997) 3 4 22 58
  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 (American journal of human genetics 1995) 3 4 22 58

Products for OAT Gene

Sources for OAT Gene

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