1. Gene
  2. GTPBP3 - GTP binding protein 3, mitochondrial Gene

GTPBP3 - GTP binding protein 3, mitochondrial Gene

中文名称:GTP 结合蛋白 3,线粒体

种属: Homo sapiens

同用名: MSS1; MTGP1; THDF1; GTPBG3; COXPD23

基因 ID: 84705 | 基因类型: protein coding

关于 GTPBP3

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:17,334,982-17,342,731 (from NCBI)

This gene has 28 transcripts (splice variants), 184 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 3.4), skin (RPKM 3.3) and 25 other tissues.

功能概要

该基因座编码 GTP 结合蛋白。编码的蛋白质定位于线粒体,可能在线粒体 tRNA 修饰中发挥作用。该基因座的多态性可能与氨基糖苷类药物引起的耳聋的严重程度相关,这是一种与 12S rRNA 突变相关的疾病。已经描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2010 年 9 月]

This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010]

GTPBP3 基因产物(4)

mRNA Protein Name
NM_001128855.3 NP_001122327.1 tRNA modification GTPase GTPBP3, mitochondrial isoform III
NM_001195422.1 NP_001182351.1 tRNA modification GTPase GTPBP3, mitochondrial isoform VII
NM_032620.4 NP_116009.2 tRNA modification GTPase GTPBP3, mitochondrial isoform V
NM_133644.4 NP_598399.2 tRNA modification GTPase GTPBP3, mitochondrial isoform IV
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 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

GTPBP3 蛋白结构

TrmE_N

TrmE_N: GTP-binding protein TrmE N-terminus (35 - 152)

MMR_HSR1

MMR_HSR1: 50S ribosome-binding GTPase (251 - 375)

MnmE_helical

MnmE_helical: MnmE helical domain (424 - 489)

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

tRNA modification GTPase GTPBP3, mitochondrial

mitochondrial GTP-binding protein 1

GTPBP3 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
GTPBP3 Q969Y2 BEND7 Homo sapiens Q8N7W2-2 32296183
种属内
GTPBP3 Q969Y2 BEND7 Homo sapiens Q8N7W2-2 32296183
种属内
GTPBP3 Q969Y2 ZNF774 Homo sapiens Q6NX45 32296183
种属内
GTPBP3 Q969Y2 ZNF774 Homo sapiens Q6NX45 32296183
种属内
GTPBP3 Q969Y2 POLDIP3 Homo sapiens Q8WUT1 32296183
种属内
GTPBP3 Q969Y2 POLDIP3 Homo sapiens Q8WUT1 32296183
种属内
GTPBP3 Q969Y2 ZFP90 Homo sapiens Q8TF47 32296183
种属内
GTPBP3 Q969Y2 ZFP90 Homo sapiens Q8TF47 32296183
种属内
GTPBP3 Q969Y2 CAPN3 Homo sapiens P20807-4 32296183
种属内
GTPBP3 Q969Y2 CAPN3 Homo sapiens P20807-4 32296183
种属内
GTPBP3 Q969Y2 TCF12 Homo sapiens Q99081-3 32296183
种属内
GTPBP3 Q969Y2 TCF12 Homo sapiens Q99081-3 32296183
种属内
GTPBP3 Q969Y2 TCF12 Homo sapiens Q99081-3 32296183
种属内
GTPBP3 Q969Y2 ZNF69 Homo sapiens Q9UC07-2 32296183
种属内
GTPBP3 Q969Y2 ZNF69 Homo sapiens Q9UC07-2 32296183
种属内
GTPBP3 Q969Y2 ZNF69 Homo sapiens Q9UC07-2 32296183
种属内
GTPBP3 Q969Y2 MBD3L1 Homo sapiens Q8WWY6 32296183
种属内
GTPBP3 Q969Y2 MBD3L1 Homo sapiens Q8WWY6 32296183
种属内
GTPBP3 Q969Y2 TBC1D3G Homo sapiens Q6DHY5 32296183
种属内
GTPBP3 Q969Y2 TBC1D3G Homo sapiens Q6DHY5 32296183
种属内
GTPBP3 Q969Y2 MEOX2 Homo sapiens Q6FHY5 32296183
种属内
GTPBP3 Q969Y2 MEOX2 Homo sapiens Q6FHY5 32296183
种属内
GTPBP3 Q969Y2 PARP11 Homo sapiens Q9NR21-1 32296183
种属内
GTPBP3 Q969Y2 PARP11 Homo sapiens Q9NR21-1 32296183
种属内
GTPBP3 Q969Y2 PARP11 Homo sapiens Q9NR21-1 32296183
种属内
GTPBP3 Q969Y2 CCDC32 Homo sapiens Q9BV29 32296183
种属内
GTPBP3 Q969Y2 CCDC32 Homo sapiens Q9BV29 32296183
种属内
GTPBP3 Q969Y2 CCDC32 Homo sapiens Q9BV29 32296183
种属内
GTPBP3 Q969Y2 GNE Homo sapiens Q9Y223 25416956
种属内
GTPBP3 Q969Y2 PFKL Homo sapiens P17858 25416956
种属内
GTPBP3 Q969Y2 PFKL Homo sapiens P17858 25416956
种属内
GTPBP3 Q969Y2 COPS5 Homo sapiens Q92905 32296183
种属内
GTPBP3 Q969Y2 COPS5 Homo sapiens Q92905 32296183
种属内
GTPBP3 Q969Y2 MESD Homo sapiens Q14696 32296183
种属内
GTPBP3 Q969Y2 MESD Homo sapiens Q14696 32296183
种属内
GTPBP3 Q969Y2 INCA1 Homo sapiens Q0VD86 32296183
种属内
GTPBP3 Q969Y2 INCA1 Homo sapiens Q0VD86 32296183
种属内
GTPBP3 Q969Y2 DPPA4 Homo sapiens Q7L190 32296183
种属内
GTPBP3 Q969Y2 DPPA4 Homo sapiens Q7L190 32296183
种属内
GTPBP3 Q969Y2 ITGB3BP Homo sapiens Q13352 32296183
种属内
GTPBP3 Q969Y2 ITGB3BP Homo sapiens Q13352 32296183
种属内
GTPBP3 Q969Y2 AGR2 Homo sapiens O95994 32296183
种属内
GTPBP3 Q969Y2 AGR2 Homo sapiens O95994 32296183
种属内
GTPBP3 Q969Y2 DDIT4L Homo sapiens Q96D03 32296183
种属内
GTPBP3 Q969Y2 DDIT4L Homo sapiens Q96D03 32296183
种属内
GTPBP3 Q969Y2 DDIT4L Homo sapiens Q96D03 32296183
种属内
GTPBP3 Q969Y2 SERTAD3 Homo sapiens Q9UJW9 32296183
种属内
GTPBP3 Q969Y2 SERTAD3 Homo sapiens Q9UJW9 32296183
种属内
GTPBP3 Q969Y2 SERTAD3 Homo sapiens Q9UJW9 32296183
种属内
GTPBP3 Q969Y2 RCN1 Homo sapiens Q15293 32296183
种属内
GTPBP3 Q969Y2 RCN1 Homo sapiens Q15293 32296183
种属内
GTPBP3 Q969Y2 RALY Homo sapiens Q53GL6 32296183
种属内
GTPBP3 Q969Y2 RALY Homo sapiens Q53GL6 32296183
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
Combined Oxidative Phosphorylation Deficiency 23

COXPD23

Combined Oxidative Phosphorylation Defect Type 23

Oxidative Phosphorylation Deficiency, Combined, Type 23

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2

MLASA2

Myopathy With Lactic Acidosis And Sideroblastic Anemia 2

Myopathy, Lactic Acidosis, And Sideroblastic Anemia, Type 2

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
Cardiomyopathy, Infantile Hypertrophic

Infantile Hypertrophic Cardiomyopathy

CMHI

Proprotein Convertase 1/3 Deficiency

Obesity Due To Prohormone Convertase I Deficiency

Obesity With Impaired Prohormone Processing

Obesity And Endocrinopathy Due To Impaired Processing Of Prohormones

Pci Deficiency

Proprotein Convertase 1 3 Deficiency

Endocrinopathy Due To Proprotein Convertase 1/3 Deficiency

Proprotein Convertase 1 Deficiency

PC1 DEFICIENCY

Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay

SIFD

Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome

Sifd Syndrome

Drug-Induced Hearing Loss

Drug Induced Hearing Loss

Deafness, Aminoglycoside-Induced

Streptomycin Ototoxicity

Deafness, Mitochondrial, Modifier Of

Aminoglycoside-Induced Deafness

Deafness, Streptomycin-Induced

Streptomycin-Induced Deafness

DFNI

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

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

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
Rattus norvegicus GTPBP3 RGD RGD:1305367
Bos taurus GTPBP3 VGNC VGNC:49552
Canis familiaris GTPBP3 VGNC VGNC:54309
Felis catus GTPBP3 VGNC VGNC:62736
Macaca mulatta GTPBP3 VGNC VGNC:73170
Mus musculus GTPBP3 MGD MGI:1917609