OAT ornithine aminotransferase [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

Location:: 10q26.13

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (124397303..124418923, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (125275480..125297100, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (126085872..126107492, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Ornithine aminotransferase supports polyamine synthesis in pancreatic cancer.
Title: Ornithine aminotransferase supports polyamine synthesis in pancreatic cancer.
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.
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.
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.
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.
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.
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.
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.
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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH1578 (e-PCR)
- UniSTS:69647

D8S2279 (e-PCR)
- UniSTS:473907

D10S1656 (e-PCR), detects polymorphism
- UniSTS:5187

D1S1423 (e-PCR)
- UniSTS:149619

GDB:682523 (e-PCR)
- UniSTS:158639

RH17677 (e-PCR)
- UniSTS:71673

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	HTP more info	PubMed
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

EC 2.6.1.13

NP_001165285.1

EC 2.6.1.13

NP_001309894.1

EC 2.6.1.13

NP_001309895.1

EC 2.6.1.13

NP_001309896.1

EC 2.6.1.13

NP_001309897.1

EC 2.6.1.13

NP_001309898.1

EC 2.6.1.13

NP_001309899.1

EC 2.6.1.13

NP_001309900.1

EC 2.6.1.13

NP_001309903.1

EC 2.6.1.13

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

NG_008861.1 RefSeqGene

Range

4975..26648

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_685

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AK312561, AL445237, CD683561

UniProtKB/TrEMBL

Q59HE2
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 ...