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

Summary

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Official Symbol: OATprovided by HGNC
Official Full Name: ornithine aminotransferaseprovided by HGNC
Primary source: HGNC:8091
See related: Ensembl:ENSG00000065154; HPRD:02021; MIM:613349; Vega:OTTHUMG00000019213
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]

Genomic context

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Location :: 10q26

Sequence :: Chromosome: 10; NC_000010.10 (126085872..126107545, complement)

See OAT in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

OAT was a highly homologous and stable protein located in the mitochondria.
Title: [Expression and bioinformatic analysis of ornithine aminotransferase  in non-small cell lung cancer].
Molecular analysis revealed a new deletion c.532_536delTGGGG (p.Trp178X) and a known mutation c.897C>G (p.Tyr299X) in the OAT gene.
Title: Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation.
Fundus autofluorescence imaging can reveal the extent of neurosensory dysfunction in gyrate atrophy patients.
Title: Retinal structure, function, and molecular pathologic features in gyrate atrophy.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
analysis of ornithine aminotransferase substrate specificity
Title: Determinants of substrate specificity in omega-aminotransferases.

Submit: New GeneRIF Correction

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

Ornithine aminotransferase deficiency

MIM: 258870

Genetic Testing Registry

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 upregulates the expression of ornithine aminotransferase in umbilical cord blood mononuclear cells and T-cell lines	PubMed

Go to the HIV-1, Human Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P04181	P04181	OAT	HPRD	PubMed
P04181	Q8N357	SLC35F6	HPRD	PubMed
P04181	Q9NRR5	UBQLN4	HPRD	PubMed
BioGRID:110996	BioGRID:107776	ATF2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110996	BioGRID:107452	CDK2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110996	BioGRID:111472	CTSA	BioGRID	PubMed	Co-fractionation
BioGRID:110996	BioGRID:108102	DMWD	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110996	BioGRID:109898	EIF6	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110996	BioGRID:117654	FBXO6	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110996	BioGRID:108964	GJA1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110996	BioGRID:115331	HDAC5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110996	BioGRID:109622	ICT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110996	BioGRID:110694	MYC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110996	BioGRID:116336	NUDT3	BioGRID	PubMed	Two-hybrid
BioGRID:110996	BioGRID:120112	OTUD4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110996	BioGRID:119602	SIRT7	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110996	BioGRID:120314	SLC35F6	BioGRID	PubMed	Two-hybrid
BioGRID:110996	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Co-purification
BioGRID:110996	BioGRID:121223	UBQLN4	BioGRID	PubMed	Two-hybrid

Pathways from BioSystems

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Amino acid synthesis and interconversion (transamination), organism-specific biosystem (from REACTOME)
Amino acid synthesis and interconversion (transamination), organism-specific biosystemThese reactions mediate the synthesis of aspartate, asparagine, glutamate, and glutamine from ammonia and intermediates of glycolysis, and allow the utilization of the carbon atoms from these four am...
Arginine and proline metabolism, organism-specific biosystem (from KEGG)
Arginine and proline metabolism, organism-specific biosystem
Arginine and proline metabolism
Arginine and proline metabolism, conserved biosystem (from KEGG)
Arginine and proline metabolism, conserved biosystem
Arginine and proline metabolism
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
Urea cycle and metabolism of amino groups, organism-specific biosystem (from WikiPathways)
Urea cycle and metabolism of amino groups, organism-specific biosystem
Urea cycle and metabolism of amino groups
arginine biosynthesis IV, organism-specific biosystem (from BIOCYC)
arginine biosynthesis IV, organism-specific biosystemThis pathway spans the mitochondrial and cytoplasmic compartments. Glutamate is formed from 2-oxoglutarate within the mitochondrial matrix. Glutamate is then transported to the cytosol. Conversion...
arginine biosynthesis IV, conserved biosystem (from BIOCYC)
arginine biosynthesis IV, conserved biosystemThis pathway spans the mitochondrial and cytoplasmic compartments. Glutamate is formed from 2-oxoglutarate within the mitochondrial matrix. Glutamate is then transported to the cytosol. Conversion...
arginine degradation I (arginase pathway), organism-specific biosystem (from BIOCYC)
arginine degradation I (arginase pathway), organism-specific biosystemGeneral Background Arginase-mediated : ARG degradation is initiated by the enzyme arginase, catalyzing the hydrolysis of :ARG to form :L-ORNITHINE and :UREA. Variations of the : ARG-degradation pat...
arginine degradation I (arginase pathway), conserved biosystem (from BIOCYC)
arginine degradation I (arginase pathway), conserved biosystemGeneral Background Arginase-mediated |FRAME: ARG| degradation is widely distributed in the biosphere, and is found in all primary kingdoms |CITS: [8759304]|. The first step in this process, catalyz...
arginine degradation VI (arginase 2 pathway), organism-specific biosystem (from BIOCYC)
arginine degradation VI (arginase 2 pathway), organism-specific biosystem
arginine degradation VI (arginase 2 pathway)
citrulline biosynthesis, organism-specific biosystem (from BIOCYC)
citrulline biosynthesis, organism-specific biosystemGeneral Background : L-CITRULLINE is a non-standard amino acid that is not normally incorporated into proteins during protein synthesis. The name citrulline was coined in 1930 from Citrullus, the L...
citrulline biosynthesis, conserved biosystem (from BIOCYC)
citrulline biosynthesis, conserved biosystemGeneral Background |FRAME: L-CITRULLINE| is a non-standard amino acid that is not normally incorporated into proteins during protein synthesis. The name citrulline was coined in 1930 from Citrullus...
proline biosynthesis II (from arginine), organism-specific biosystem (from BIOCYC)
proline biosynthesis II (from arginine), organism-specific biosystem
proline biosynthesis II (from arginine)
superpathway of citrulline metabolism, organism-specific biosystem (from BIOCYC)
superpathway of citrulline metabolism, organism-specific biosystem
superpathway of citrulline metabolism
superpathway of citrulline metabolism, conserved biosystem (from BIOCYC)
superpathway of citrulline metabolism, conserved biosystemGeneral Background |FRAME: L-CITRULLINE| is a non-standard amino acid that is not normally incorporated into proteins during protein synthesis. The name citrulline was coined in 1930 from Citrullus...

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

Genotypes

See OAT SNP Geneview Report
See OAT SNP Genotype Report
See OAT SNP Variation Viewer Report

Homology

Homologs of the OAT gene: The OAT gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, and rice.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ornithine-oxo-acid transaminase activity	EXP Inferred from Experiment more info
pyridoxal phosphate binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
L-proline biosynthetic process	IEA Inferred from Electronic Annotation more info
cellular amino acid biosynthetic process	TAS Traceable Author Statement more info
cellular nitrogen compound metabolic process	TAS Traceable Author Statement more info
protein hexamerization	IDA Inferred from Direct Assay more info
small molecule metabolic process	TAS Traceable Author Statement more info
visual perception	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
mitochondrial matrix	TAS Traceable Author Statement more info
mitochondrion	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: ornithine aminotransferase, mitochondrial

Names: ornithine aminotransferase, mitochondrial; gyrate atrophy; ornithine delta-aminotransferase; ornithine-oxo-acid aminotransferase

NP_000265.1

EC 2.6.1.13

NP_001165285.1

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)

mRNA and Protein(s)

NM_000274.3 → NP_000265.1 ornithine aminotransferase, mitochondrial isoform 1 precursor

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

P04181

Related

ENSP00000357838, OTTHUMP00000020690, ENST00000368845, OTTHUMT00000050863

Conserved Domains (2) summary

cd00610
Location:43 – 436
Blast Score: 1106

OAT_like; Acetyl ornithine aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to ornithine aminotransferase, acetylornithine aminotransferase, ...

TIGR01885
Location:40 – 437
Blast Score: 1807

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

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/Swiss-Prot

P04181

Related

ENSP00000439042, ENST00000539214

Conserved Domains (1) summary

cd00610
Location:1 – 298
Blast Score: 831

OAT_like; Acetyl ornithine aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to ornithine aminotransferase, acetylornithine aminotransferase, ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000010.10 Reference GRCh37.p10 Primary Assembly

Range

126085872..126107545, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

119770641..119792323, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018921.1 Alternate CHM1_1.0

Range

126550874..126572553, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01034142.1 (14634..36316)	None
genomic	AL445237.16 (68422..90095)	None
genomic	AMYH01003154.1 (185750..207429)	None
genomic	CH471066.2	EAW49271.1
		EAW49272.1
genomic	M29927.1	AAA59957.1
genomic	M88760.1	AAA59958.1
mRNA	AB208817.1	BAD92054.1
mRNA	AK296032.1	BAH12241.1
mRNA	AK312561.1	BAG35458.1
mRNA	AK315947.1	BAH14318.1
mRNA	BC000964.2	AAH00964.1
mRNA	BC016928.1	AAH16928.1
mRNA	CR457045.1	CAG33326.1
mRNA	CR749808.1	CAH18668.1
mRNA	DB459793.1	None
mRNA	M12267.1	AAA59956.1
mRNA	M14963.1	AAA59959.1
mRNA	M23204.1	AAA36386.1
mRNA	R37569.1	None
mRNA	S66418.1	AAB20298.1
mRNA	S66421.1	AAB20297.1
mRNA	Y07511.1	CAA68809.1
other-genetic	JF432151.1	ADZ15368.1