OAT - ornithine aminotransferase Gene

Also Known as OKT; GACR; HOGA; OATASE

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 4942

About OAT

Cytogenetic location: 10q26.13 Genomic coordinates (GRCh38): 10:124,397,303-124,418,923 (from NCBI)

This gene has 8 transcripts (splice variants), 234 orthologues, 4 paralogues and is associated with 3 phenotypes. Broad expression in small intestine (RPKM 198.3), duodenum (RPKM 185.5) and 20 other tissues.

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]

OAT Products (10)

mRNA	Protein	Name
NM_000274.4	NP_000265.1	ornithine aminotransferase, mitochondrial isoform 1 precursor
NM_001171814.2	NP_001165285.1	ornithine aminotransferase, mitochondrial isoform 2
NM_001322965.2	NP_001309894.1	ornithine aminotransferase, mitochondrial isoform 1 precursor
NM_001322966.2	NP_001309895.1	ornithine aminotransferase, mitochondrial isoform 1 precursor
NM_001322967.2	NP_001309896.1	ornithine aminotransferase, mitochondrial isoform 1 precursor
NM_001322968.2	NP_001309897.1	ornithine aminotransferase, mitochondrial isoform 1 precursor
NM_001322969.2	NP_001309898.1	ornithine aminotransferase, mitochondrial isoform 1 precursor
NM_001322970.2	NP_001309899.1	ornithine aminotransferase, mitochondrial isoform 1 precursor
NM_001322971.2	NP_001309900.1	ornithine aminotransferase, mitochondrial isoform 3
NM_001322974.2	NP_001309903.1	ornithine aminotransferase, mitochondrial isoform 4

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables identical protein binding	IPI IPI: Inferred from physical interaction	23076989	GOA
enables ornithine aminotransferase activity	IMP IMP: Inferred from mutant phenotype	1737786	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	23076989	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

OAT Protein Structure

Aminotran_3

0
100
200
300
400
439 a.a.

Protein Preferred Names	Protein Names
ornithine aminotransferase, mitochondrial	gyrate atrophy

OAT Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	OAT	P04181	APP	Homo sapiens	P05067	Y2H Pooling	32814053
Intra	OAT	P04181	APP	Homo sapiens	P05067	Validated Y2H	32814053
Intra	OAT	P04181	APP	Homo sapiens	P05067	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Gyrate Atrophy Of Choroid And Retina	Gyrate Atrophy Ornithine Aminotransferase Deficiency HOGA Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina Oat Deficiency Okt Deficiency Hyperornithinemia Ornithine Keto Acid Aminotransferase Deficiency Ornithine-Delta-Aminotransferase Deficiency Gyrate Atrophy Of The Choroid And Retina GACR Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia Gyrate Atrophy Of The Retina Ornithinemia With Gyrate Atrophy Ornithinemia Fuchs Atrophia Gyrata Chorioideae Et Retinae Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome Gyrate Atrophy Of The Choroid And/Or Retina Girate Atrophy Of The Retina Ornithine Ketoacid Aminotransferase Deficiency Atrophy, Gyrate, Of Choroid And Retina
Choroid Disease	Choroid Diseases Abnormality Of The Choroid
Paine Syndrome	Pain Disorder Pain Microcephaly With Spastic Diplegia Pain Syndrome
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Flying Phobia	Aerophobia
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Cystinuria	CSNU Cystinuria Type B Cystinuria Type A Cystinuria, Type I, Formerly Csnu1, Formerly Cystinuria, Type Ii, Formerly Cystinuria, Type Iii, Formerly Csnu3, Formerly Cystinuria, Type Non-I, Formerly Cystinuria-Lysinuria Cystinuria-Lysinuria Syndrome Csnu1 Csnu3 Cystinuria 1 Cystinuria Type A/B Cystinuria Type I Cystinuria Type Ii Cystinuria Type Iii Cystinuria Type Non-I Cystinuria, Type A/B Cystinuria Type 1 Cystinuria - Lysinuria Csnu - [Cystinuria] Cystine Disease
Cerebral Creatine Deficiency Syndrome 3	Arginine:Glycine Amidinotransferase Deficiency Agat Deficiency Gatm Deficiency Creatine Deficiency Syndrome Due To Agat Deficiency L-Arginine:Glycine Amidinotransferase Deficiency CCDS3 L-Arginine:Glycine Aminidotransferase Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 3
Cerebral Creatine Deficiency Syndrome 2	Guanidinoacetate Methyltransferase Deficiency Gamt Deficiency Creatine Deficiency Syndrome Due To Gamt Deficiency Deficiency Of Guanidinoacetate Methyltransferase CCDS2 Guanidinoacetate Methyltransferase Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 2 Language Development Disorders
Cerebral Creatine Deficiency Syndrome	Deficiency, Cerebral Creatine, Syndrome
Retinal Degeneration	Degeneration Of Retina
Parapsoriasis	Digitate Dermatosis Parapsoriasis En Plaque Parapsoriasis En Plaques
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Hyperprolinemia, Type I	Proline Oxidase Deficiency Hyperprolinemia Type 1 HYRPRO1 Hpi Hyperprolinemia Type I Hyperprolinemia 1 Proline Dehydrogenase Deficiency
Argininemia	Hyperargininemia Arginase Deficiency Arg1 Deficiency Arginase-1 Deficiency Deficiency Of Canavanase Arginase Deficiency Disease ARGIN
Prolidase Deficiency	Hyperimidodipeptiduria Imidodipeptidase Deficiency Peptidase Deficiency PD Deficiency Of Prolidase Imidodipeptiduria Proline Dipeptidase Deficiency
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hhh Syndrome Ornithine Translocase Deficiency Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome HHHS Hhh Triple H Syndrome Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Ornithine Translocase Deficiency Syndrome Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome Ornt1 Deficiency Ornithine Carrier Deficiency Hyperornithinemia, Hyperammonemia, Homocitrullinuria Syndrome
Rheumatic Myocarditis	Acute Rheumatic Myocarditis Active Rheumatic Fever With Myocarditis Acute Rheumatic Carditis Rheumatic Degeneration Of Myocardium Rheumatic Fever With Myocarditis Rheumatoid Myocarditis Acute Rheumatic Heart Disease Acute Rheumatic Fever With Myocarditis Active Or Acute Rheumatic Myocarditis Active Rheumatic Myocarditis Active Rheumatic Progressive Myocarditis Chronic Active Rheumatic Myocarditis Old Active Rheumatic Myocarditis Active Rheumatic Fibroid Myocarditis Active Rheumatic Interstitial Myocarditis Acute Or Subacute Rheumatic Myocardial Insufficiency Acute Rheumatic Toxic Myocarditis Inactive Or Quiescent Rheumatic Fever With Myocarditis Inactive Rheumatic Myocarditis Rheumatic Progressive Myocarditis Rheumatic Fibroid Myocarditis Rheumatic Interstitial Myocarditis Myocardial Degeneration With Rheumatic Fever Myocardial Insufficiency With Rheumatic Fever Rheumatic Cardiomyopathy Dilated Cardiomyopathy Due To Rheumatic Fever Myocarditis Due To Rheumatic Fever Rheumatic Myocardial Insufficiency
Urea Cycle Disorder	Urea Cycle Disorders Urea Cycle Disorders, Inborn Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia Disorder Of Urea Cycle Metabolism Urea Cycle Defect Ucd Disorder Of The Urea Cycle Metabolism Disorder Of Urea Cycle Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia Ammonia Metabolic Disorder
Citrullinemia, Classic	Citrullinemia Classic Citrullinemia Argininosuccinate Synthetase Deficiency Ass Deficiency Citrullinemia Type I CTLN1 Citrullinuria Citrullinemia, Type I Argininosuccinic Acid Synthetase Deficiency Ctnl1 Citrullinemia 1 Deficiency Of Citrulline-Aspartate Ligase Cit Argininosuccinate Synthase Deficiency Argininosuccinic Acid Synthase Deficiency Citrullinemia Type 1 Citrullinemia Classical
Uveal Disease	Uveal Diseases
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (9)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-50896	Erlotinib	Inhibitor	99.99%	Yes
HY-15592	Cabotegravir	Inhibitor	99.92%	Unkown
HY-12008	Erlotinib Hydrochloride	Inhibitor	99.94%	Yes
HY-50896R	Erlotinib (Standard)	Inhibitor	99.97%	Unkown
HY-15258	Lesinurad	Inhibitor	99.96%	Unkown
HY-15592A	Cabotegravir sodium	Inhibitor	99.87%	Unkown
HY-12008R	Erlotinib Hydrochloride (Standard)	Inhibitor	99.73%	Unkown
HY-15258A	Lesinurad sodium	Inhibitor	99.97%	Unkown
HY-12008A	Erlotinib mesylate	Inhibitor	/	Unkown

Clinical Phase

Bioactive Molecules (2)

製品番号	製品名	製品効果	純度	Phase
HY-111345	Epaminurad	Inhibitor	99.75%	Phase 3
HY-16278A	Pradigastat sodium	Inhibitor	/	Phase 3

Pre-clinical Phase

Bioactive Molecules (34)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-154021A	5-Fluoromethylornithine dihydrochloride	Inhibitor	99.08%	Unkown
HY-N3513	Mulberrin	Inhibitor	99.94%	Unkown
HY-16278	Pradigastat	Inhibitor	99.88%	Unkown
HY-122009	Indican	Inhibitor	99.88%	Unkown
HY-B0927	Hydrastine	Inhibitor	99.57%	Unkown
HY-133825	Cyazofamid	Inhibitor	98.15%	Unkown
HY-W585842	Estradiol 3-glucuronide	Substrate	98.00%	Unkown
HY-W002438	6-Hydroxyindole	Inhibitor	99.98%	Unkown
HY-126848	Diclofenac acyl glucuronide	Substrate	98.34%	Unkown
HY-N3504	Ophiopogonin D'	Modulator	99.94%	Unkown
HY-148682	18β-Glycyrrhetyl-3-O-sulfate	Inhibitor	/	Unkown
HY-50896S	Erlotinib-d6	Inhibitor	99.84%	Unkown
HY-N7755	Estradiol 3-glucuronide sodium	Substrate	98%	Unkown
HY-12008S	Erlotinib-d6 hydrochloride	Inhibitor	98.13%	Unkown
HY-B0396B	Tebipenem pivoxil hydrobromide	Substrate	/	Unkown
HY-175645	NLRP3/URAT1-IN-1	Inhibitor	/	Unkown
HY-50896S1	Erlotinib-13C6	Inhibitor	/	Unkown
HY-15592S4	Cabotegravir-d6	Inhibitor	/	Unkown
HY-182542	SOAT-IN-3	Inhibitor	/	Unkown
HY-D3239	AF405 NHS Ester	Substrate	/	Unkown
HY-W740244	4’-Hydroxy Trazodone		/	Unkown
HY-12008S1	Erlotinib-13C6 hydrochloride	Inhibitor	/	Unkown
HY-137846A	PF-05221304 tromethamine	Substrate	/	Unkown
HY-184557	DZ-1-DHA		/	Unkown
HY-16443	S-4048		/	Unkown
HY-N12007	OAT1/3-IN-1		/	Unkown
HY-N12008	OAT1/3-IN-2		/	Unkown
HY-155485	Abi-DZ-1		/	Unkown
HY-138142	Euphol acetate	Inhibitor	/	Unkown
HY-50896S2	Erlotinib-d4	Inhibitor	/	Unkown
HY-50896S3	Erlotinib-d8	Inhibitor	/	Unkown
HY-15258S1	Lesinurad-d4	Inhibitor	/	Unkown
HY-111345A	Epaminurad hydrochloride	Inhibitor	/	Unkown
HY-180227	URAT1-IN-15	Inhibitor	/	Unkown