1. Gene
  2. OAT - ornithine aminotransferase Gene

OAT - ornithine aminotransferase Gene

中文名称:鸟氨酸转氨酶

种属: Homo sapiens

同用名: OKT; GACR; HOGA; OATASE

基因 ID: 4942 | 基因类型: protein coding

关于 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.

功能概要

该基因编码线粒体酶鸟氨酸氨基转移酶,它是将精氨酸和鸟氨酸转化为主要的兴奋性和抑制性神经递质谷氨酸和 GABA 的途径中的关键酶。导致这种酶缺乏的突变会导致常染色体隐性眼病 Gyrate Atrophy。已经描述了编码不同亚型的选择性剪接转录物变体。相关假基因已在 X 染色体上定义。[RefSeq 提供,2010 年 1 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IPI
IPI: 通过物理相互作用推断
23076989 GOA
enables ornithine aminotransferase activity IMP
IMP: 通过突变表型推断
1737786 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial matrix IDA
IDA: 通过直接分析推断
23076989 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

OAT 蛋白结构

Aminotran_3

Aminotran_3: Aminotransferase class-III (62 - 383)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 439 a.a.
蛋白主名 其他名称

ornithine aminotransferase, mitochondrial

gyrate atrophy

OAT 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
OAT P04181 APP Homo sapiens P05067 32814053
种属内
OAT P04181 APP Homo sapiens P05067 32814053
种属内
OAT P04181 APP Homo sapiens P05067 32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Mus musculus OAT NCBI NCBI:18242
Rattus norvegicus OAT NCBI NCBI:64313