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OAT ornithine aminotransferase [ Homo sapiens (human) ]

Gene ID: 4942, updated on 7-Apr-2024

Summary

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Official Symbol
OATprovided by HGNC
Official Full Name
ornithine aminotransferaseprovided by HGNC
Primary source
HGNC:HGNC:8091
See related
Ensembl:ENSG00000065154 MIM:613349; AllianceGenome:HGNC:8091
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OKT; GACR; HOGA; OATASE
Summary
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]
Expression
Broad expression in small intestine (RPKM 198.3), duodenum (RPKM 185.5) and 20 other tissues See more
Orthologs
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Genomic context

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See OAT in Genome Data Viewer
Location:
10q26.13
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (124397303..124418923, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (125275480..125297100, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (126085872..126107492, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4165 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:125927283-125928482 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:125929584-125930147 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:125936098-125936598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:125958373-125958874 Neighboring gene uncharacterized LOC107984184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:125996111-125997098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126009557-126010056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126067885-126068602 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2908 Neighboring gene NANOG hESC enhancer GRCh37_chr10:126092029-126092572 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:126107534-126108193 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126108167-126108681 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126135289-126136156 Neighboring gene NK1 homeobox 2 Neighboring gene ornithine aminotransferase pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Biochemical and Bioinformatic Studies of Mutations of Residues at the Monomer-Monomer Interface of Human Ornithine Aminotransferase Leading to Gyrate Atrophy of Choroid and Retina. Floriani F, et al. Int J Mol Sci, 2023 Feb 8. PMID 36834788, Free PMC Article
  2. Determination of the pH dependence, substrate specificity, and turnovers of alternative substrates for human ornithine aminotransferase. Butrin A, et al. J Biol Chem, 2022 Jun. PMID 35460691, Free PMC Article
  3. Turnover and Inactivation Mechanisms for (S)-3-Amino-4,4-difluorocyclopent-1-enecarboxylic Acid, a Selective Mechanism-Based Inactivator of Human Ornithine Aminotransferase. Shen S, et al. J Am Chem Soc, 2021 Jun 16. PMID 34097381, Free PMC Article
  4. Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene. Sen S, et al. Ophthalmic Genet, 2021 Jun. PMID 33463379
  5. A novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female. Magliyah M, et al. Ophthalmic Genet, 2021 Apr. PMID 33243052

See all (135) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Role of lung ornithine aminotransferase in idiopathic pulmonary fibrosis: regulation of mitochondrial ROS generation and TGF-beta1 activity.
    Title: Role of lung ornithine aminotransferase in idiopathic pulmonary fibrosis: regulation of mitochondrial ROS generation and TGF-β1 activity.
  2. Ornithine aminotransferase supports polyamine synthesis in pancreatic cancer.
    Title: Ornithine aminotransferase supports polyamine synthesis in pancreatic cancer.
  3. Biochemical and Bioinformatic Studies of Mutations of Residues at the Monomer-Monomer Interface of Human Ornithine Aminotransferase Leading to Gyrate Atrophy of Choroid and Retina.
    Title: Biochemical and Bioinformatic Studies of Mutations of Residues at the Monomer-Monomer Interface of Human Ornithine Aminotransferase Leading to Gyrate Atrophy of Choroid and Retina.
  4. Ornithine aminotransferase and carbamoyl phosphate synthetase 1 involved in ammonia metabolism serve as novel targets for early stages of gastric cancer.
    Title: Ornithine aminotransferase and carbamoyl phosphate synthetase 1 involved in ammonia metabolism serve as novel targets for early stages of gastric cancer.
  5. Determination of the pH dependence, substrate specificity, and turnovers of alternative substrates for human ornithine aminotransferase.
    Title: Determination of the pH dependence, substrate specificity, and turnovers of alternative substrates for human ornithine aminotransferase.
  6. Turnover and Inactivation Mechanisms for (S)-3-Amino-4,4-difluorocyclopent-1-enecarboxylic Acid, a Selective Mechanism-Based Inactivator of Human Ornithine Aminotransferase.
    Title: Turnover and Inactivation Mechanisms for (S)-3-Amino-4,4-difluorocyclopent-1-enecarboxylic Acid, a Selective Mechanism-Based Inactivator of Human Ornithine Aminotransferase.
  7. Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene.
    Title: Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene.
  8. A novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female.
    Title: A novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female.
  9. Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects.
    Title: Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects.
  10. Recruitment of a third-degree first cousin consanguineous marriage family with gyrate atrophy of the choroid and retina (GACR) allowed us to identify a novel pathogenic OAT variant in the Chinese population, broadening the mutation spectrum.
    Title: Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant.
Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Ornithine aminotransferase deficiency
MedGen: C0018425 OMIM: 258870 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify ornithine aminotransferase (OAT), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
env HIV-1 gp120 upregulates the expression of ornithine aminotransferase in umbilical cord blood mononuclear cells and T-cell lines PubMed
Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify ornithine aminotransferase (OAT), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Nef nef Tandem affinity purification and mass spectrometry analysis identify ornithine aminotransferase (OAT), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify ornithine aminotransferase (OAT), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp781A11155

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ornithine aminotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ornithine aminotransferase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables pyridoxal phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in L-proline biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in arginine catabolic process to glutamate IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in arginine catabolic process to proline via ornithine IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in visual perception TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
ornithine aminotransferase, mitochondrial
Names
gyrate atrophy
ornithine delta-aminotransferase
ornithine-oxo-acid aminotransferase
testicular tissue protein Li 130
NP_000265.1
NP_001165285.1
NP_001309894.1
NP_001309895.1
NP_001309896.1
NP_001309897.1
NP_001309898.1
NP_001309899.1
NP_001309900.1
NP_001309903.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008861.1 RefSeqGene

    Range
    4975..26648
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_685

mRNA and Protein(s)

  1. NM_000274.4 → NP_000265.1  ornithine aminotransferase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_000265.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC016928, DB459793, R37569
    Consensus CDS
    CCDS7639.1
    UniProtKB/Swiss-Prot
    D3DRF0, P04181, Q16068, Q16069, Q68CS0, Q6IAV9, Q9UD03
    UniProtKB/TrEMBL
    A0A140VJQ4
    Related
    ENSP00000357838.5, ENST00000368845.6
    Conserved Domains (1) summary
    TIGR01885
    Location:40 → 437
    Orn_aminotrans; ornithine aminotransferase

  2. NM_001171814.2 → NP_001165285.1  ornithine aminotransferase, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001165285.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    BC016928, DB459793, R37569
    Consensus CDS
    CCDS53586.1
    UniProtKB/TrEMBL
    Q59HE2
    Related
    ENSP00000439042.1, ENST00000539214.5
    Conserved Domains (1) summary
    cl18945
    Location:1 → 299
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...

  3. NM_001322965.2 → NP_001309894.1  ornithine aminotransferase, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), as well as variants 1, 4, 5, 6, 7, and 8, encodes isoform 1.
    Source sequence(s)
    AK312561, AL445237, CD104356
    Consensus CDS
    CCDS7639.1
    UniProtKB/Swiss-Prot
    D3DRF0, P04181, Q16068, Q16069, Q68CS0, Q6IAV9, Q9UD03
    UniProtKB/TrEMBL
    A0A140VJQ4
    Conserved Domains (1) summary
    TIGR01885
    Location:40 → 437
    Orn_aminotrans; ornithine aminotransferase

  4. NM_001322966.2 → NP_001309895.1  ornithine aminotransferase, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variants 1, 3, 5, 6, 7, and 8, encodes isoform 1.
    Source sequence(s)
    AL445237
    Consensus CDS
    CCDS7639.1
    UniProtKB/Swiss-Prot
    D3DRF0, P04181, Q16068, Q16069, Q68CS0, Q6IAV9, Q9UD03
    UniProtKB/TrEMBL
    A0A140VJQ4
    Conserved Domains (1) summary
    TIGR01885
    Location:40 → 437
    Orn_aminotrans; ornithine aminotransferase

  5. NM_001322967.2 → NP_001309896.1  ornithine aminotransferase, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 1, 3, 4, 6, 7, and 8, encodes isoform 1.
    Source sequence(s)
    AL445237
    Consensus CDS
    CCDS7639.1
    UniProtKB/Swiss-Prot
    D3DRF0, P04181, Q16068, Q16069, Q68CS0, Q6IAV9, Q9UD03
    UniProtKB/TrEMBL
    A0A140VJQ4
    Conserved Domains (1) summary
    TIGR01885
    Location:40 → 437
    Orn_aminotrans; ornithine aminotransferase

  6. NM_001322968.2 → NP_001309897.1  ornithine aminotransferase, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 1, 3, 4, 5, 7, and 8, encodes isoform 1.
    Source sequence(s)
    AL445237
    Consensus CDS
    CCDS7639.1
    UniProtKB/Swiss-Prot
    D3DRF0, P04181, Q16068, Q16069, Q68CS0, Q6IAV9, Q9UD03
    UniProtKB/TrEMBL
    A0A140VJQ4
    Conserved Domains (1) summary
    TIGR01885
    Location:40 → 437
    Orn_aminotrans; ornithine aminotransferase

  7. NM_001322969.2 → NP_001309898.1  ornithine aminotransferase, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 1, 3, 4, 5, 6, and 8, encodes isoform 1.
    Source sequence(s)
    AL445237
    Consensus CDS
    CCDS7639.1
    UniProtKB/Swiss-Prot
    D3DRF0, P04181, Q16068, Q16069, Q68CS0, Q6IAV9, Q9UD03
    UniProtKB/TrEMBL
    A0A140VJQ4
    Conserved Domains (1) summary
    TIGR01885
    Location:40 → 437
    Orn_aminotrans; ornithine aminotransferase

  8. NM_001322970.2 → NP_001309899.1  ornithine aminotransferase, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variants 1, 3, 4, 5, 6, and 7, encodes isoform 1.
    Source sequence(s)
    AL445237
    Consensus CDS
    CCDS7639.1
    UniProtKB/Swiss-Prot
    D3DRF0, P04181, Q16068, Q16069, Q68CS0, Q6IAV9, Q9UD03
    UniProtKB/TrEMBL
    A0A140VJQ4
    Conserved Domains (1) summary
    TIGR01885
    Location:40 → 437
    Orn_aminotrans; ornithine aminotransferase

  9. NM_001322971.2 → NP_001309900.1  ornithine aminotransferase, mitochondrial isoform 3

    Status: REVIEWED

    Source sequence(s)
    AK312561, AL445237, CD683561
    UniProtKB/TrEMBL
    Q59HE2

  10. NM_001322974.2 → NP_001309903.1  ornithine aminotransferase, mitochondrial isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL445237
    UniProtKB/TrEMBL
    Q59HE2
    Conserved Domains (1) summary
    cl18945
    Location:1 → 237
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    124397303..124418923 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    125275480..125297100 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P04181.1 GenPept UniProtKB/Swiss-Prot:P04181

Gene LinkOut

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