1. Gene
  2. MTO1 - mitochondrial tRNA translation optimization 1 Gene

MTO1 - mitochondrial tRNA translation optimization 1 Gene

中文名称:线粒体 tRNA 翻译优化 1

种属: Homo sapiens

同用名: CGI-02; COXPD10

基因 ID: 25821 | 基因类型: protein coding

关于 MTO1

Cytogenetic location: 6q13 Genomic coordinates (GRCh38): 6:73,461,737-73,509,236 (from NCBI)

This gene has 79 transcripts (splice variants), 197 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 10.3), lymph node (RPKM 8.3) and 25 other tissues.

功能概要

该基因编码一种被认为参与线粒体 tRNA 修饰的线粒体蛋白。编码的蛋白质也可能在与线粒体 12S rRNA 基因的特定突变相关的非综合征和氨基糖苷类诱导的耳聋表型的表达中发挥作用。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a mitochondrial protein thought to be involved in mitochondrial tRNA modification. The encoded protein may also play a role in the expression of the non-syndromic and aminoglycoside-induced deafness phenotypes associated with a specific mutation in the mitochondrial 12S rRNA gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

MTO1 基因产物(3)

mRNA Protein Name
NM_001123226.2 NP_001116698.1 protein MTO1 homolog, mitochondrial isoform c
NM_012123.4 NP_036255.2 protein MTO1 homolog, mitochondrial isoform a
NM_133645.3 NP_598400.1 protein MTO1 homolog, mitochondrial isoform b

MTO1 蛋白结构

GIDA

GIDA: Glucose inhibited division protein A (38 - 460)

GIDA_assoc

GIDA_assoc: GidA associated domain (612 - 683)

  • 0
  • 200
  • 400
  • 600
  • 717 a.a.
蛋白主名 其他名称

protein MTO1 homolog, mitochondrial

homolog of yeast Mto1

MTO1 抗体

目录号 产品名 应用 反应物种
HY-P89637 MTO1 Antibody (YA8981) WB, ICC/IF, IF-Tissue, IP, ELISA human

关联疾病

疾病名称 别名
Combined Oxidative Phosphorylation Deficiency 10

COXPD10

Mitochondrial Hypertrophic Cardiomyopathy With Lactic Acidosis Due To Mto1 Deficiency

Cardiomyopathy, Infantile Hypertrophic Mitochondrial, And Lactic Acidosis

Infantile Hypertrophic Mitochondrial Cardiomyopathy And Lactic Acidosis

Combined Oxidative Phosphorylation Defect Type 10

Cardiomyopathy Infantile Hypertrophic Mitochondrial And Lactic Acidosis

Combined Oxidative Phosphorylation Deficiency, Type 10

Mitochondrial Oxidative Phosphorylation Disorder

Oxphos Disease

Mitochondrial Respiratory Chain Disorders

Oxphos - [Oxidative Phosphorylation] Diseases

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Cardiomyopathy, Infantile Hypertrophic

Infantile Hypertrophic Cardiomyopathy

CMHI

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Combined Oxidative Phosphorylation Deficiency
Tuberculum Sellae Meningioma

Meningioma Of The Tuberculum Sellae

Sella Turcica Neoplasm

Tumor Of Sella Turcica

Liver Failure, Infantile, Transient

Acute Infantile Liver Failure Due To Synthesis Defect Of Mtdna-Encoded Proteins

Transient Infantile Liver Failure

LFIT

Acute Infantile Liver Failure

Acute Infantile Liver Failure Due To Synthesis Defect Of Mitochondrial Dna-Encoded Proteins

Liver Failure, Transient Infantile

Acute Infantile Liver Failure Due To Mtdna-Encoded Proteins Synthesis Defect

Liver Failure, Acute Infantile

Failure, Liver, Transient, Infantile

Queensland Tick Typhus

Australian Tick Typhus

North Queensland Tick Typhus

Rickettsia Australis Spotted Fever

Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2

MLASA2

Myopathy With Lactic Acidosis And Sideroblastic Anemia 2

Myopathy, Lactic Acidosis, And Sideroblastic Anemia, Type 2

Mitochondrial Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome

MELAS

Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Early Myoclonic Encephalopathy

Myoclonic Epilepsy

Myoclonic Seizure

Epilepsies, Myoclonic

Epileptic Seizures - Myoclonic

Epileptic Seizures, Myoclonic

Myoclonia Epileptica

Myoclonic Seizure Disorder

Early Myoclonic Encephalopathy With Suppression-Bursts

Mitochondrial Myopathy

Mitochondrial Myopathies

Mitochondrial Cytopathy

Myopathies In Mitochondrial Disorders

Mitochondrial Complex Iv Deficiency, Nuclear Type 1

Cytochrome C Oxidase Deficiency

Mitochondrial Complex Iv Deficiency

Cox Deficiency

Cytochrome-C Oxidase Deficiency Disease

MC1DN4

Cytochrome-C Oxidase Deficiency

MC4DN1

Mitochondrial Complex I Deficiency, Nuclear Type 4

Complex 4 Mitochondrial Respiratory Chain Deficiency

Complex Iv Deficiency

Mitochondrial Complex 1 Deficiency, Nuclear Type 4

Nuclear Type Mitochondrial Complex I Deficiency 4

Deficiency Of Mitochondrial Respiratory Chain Complex4

MT-C4D

Complex Iv Mitochondrial Respiratory Chain Deficiency

Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency

Mitochondrial Complex Iv Deficiency, Nuclear, Type 1

Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of

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
Felis catus MTO1 VGNC VGNC:102469
Mus musculus MTO1 MGD MGI:1915541
Rattus norvegicus MTO1 RGD RGD:1308830
Bos taurus MTO1 VGNC VGNC:31747
Macaca mulatta MTO1 VGNC VGNC:74993
Canis familiaris MTO1 VGNC VGNC:43489