1. Gene
  2. TSFM - Ts translation elongation factor, mitochondrial Gene

TSFM - Ts translation elongation factor, mitochondrial Gene

中文名称:Ts 翻译延伸因子,线粒体

种属: Homo sapiens

同用名: EFTS; EFTSMT

基因 ID: 10102 | 基因类型: protein coding

关于 TSFM

Cytogenetic location: 12q14.1 Genomic coordinates (GRCh38): 12:57,782,787-57,802,856 (from NCBI)

This gene has 12 transcripts (splice variants), 205 orthologues and is associated with 2 phenotypes. Ubiquitous expression in adrenal (RPKM 18.8), kidney (RPKM 13.0) and 25 other tissues.

功能概要

该基因编码线粒体翻译延伸因子。所编码的蛋白质是一种酶,可在线粒体蛋白质翻译的延伸步骤中催化翻译延伸因子 Tu 上鸟嘌呤核苷酸的交换。该基因的突变与联合氧化磷酸化缺陷 3 综合征有关。交替剪接导致多个转录变体。[RefSeq 提供,2010 年 3 月]

This gene encodes a mitochondrial translation elongation factor. The encoded protein is an Enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined Oxidative Phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]

TSFM 基因产物(4)

mRNA Protein Name
NM_001172695.2 NP_001166166.1 elongation factor Ts, mitochondrial isoform 3 precursor
NM_001172696.2 NP_001166167.1 elongation factor Ts, mitochondrial isoform 1 precursor
NM_001172697.2 NP_001166168.1 elongation factor Ts, mitochondrial isoform 4 precursor
NM_005726.6 NP_005717.3 elongation factor Ts, mitochondrial isoform 2 precursor
基因本体论
  • 分子功能
  • 生物过程
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
25910212 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of mitochondrial translation IDA
IDA: 通过直接分析推断
27677415 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

TSFM 蛋白结构

UBA

UBA: UBA/TS-N domain (46 - 78)

EF_TS

EF_TS: Elongation factor TS (102 - 270)

EF_TS

EF_TS: Elongation factor TS (280 - 317)

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

elongation factor Ts, mitochondrial

mitochondrial elongation factor Ts

TSFM 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
TSFM P43897 GAS8 Homo sapiens O95995
Y2H Array
32296183
种属内
TSFM P43897 GAS8 Homo sapiens O95995
Y2H Prey Pooling
32296183
种属内
TSFM P43897 KRTAP1-1 Homo sapiens Q07627
Y2H Prey Pooling
32296183
种属内
TSFM P43897 KRTAP1-1 Homo sapiens Q07627
Validated Y2H
32296183
种属内
TSFM P43897 KRTAP1-1 Homo sapiens Q07627
Y2H Array
32296183
种属内
TSFM P43897 CCDC89 Homo sapiens Q8N998
Y2H Prey Pooling
32296183
种属内
TSFM P43897 CCDC89 Homo sapiens Q8N998
Validated Y2H
32296183
种属内
TSFM P43897 CCDC89 Homo sapiens Q8N998
Y2H Array
32296183
种属内
TSFM P43897 CPLX2 Homo sapiens Q6PUV4
Validated Y2H
32296183
种属内
TSFM P43897 CPLX2 Homo sapiens Q6PUV4
Y2H Prey Pooling
32296183
种属内
TSFM P43897 CPLX2 Homo sapiens Q6PUV4
Y2H Array
32296183
种属内
TSFM P43897 GOLGA6L9 Homo sapiens A6NEM1
Y2H Prey Pooling
32296183
种属内
TSFM P43897 GOLGA6L9 Homo sapiens A6NEM1
Y2H Array
32296183
种属内
TSFM P43897 MDFI Homo sapiens Q99750
Y2H Array
32296183
种属内
TSFM P43897 MDFI Homo sapiens Q99750
Y2H Prey Pooling
32296183
种属内
TSFM P43897 MDFI Homo sapiens Q99750
Validated Y2H
32296183
种属内
TSFM P43897 CEP70 Homo sapiens Q8NHQ1
Y2H Bait-Prey Pool
25910212
种属内
TSFM P43897 CEP70 Homo sapiens Q8NHQ1
Validated Y2H
32296183
种属内
TSFM P43897 CEP70 Homo sapiens Q8NHQ1
Y2H Prey Pooling
32296183
种属内
TSFM P43897 CEP70 Homo sapiens Q8NHQ1
Y2H Array
32296183
种属内
TSFM P43897 RALBP1 Homo sapiens Q15311
Y2H Prey Pooling
32296183
种属内
TSFM P43897 RALBP1 Homo sapiens Q15311
Y2H Array
32296183
种属内
TSFM P43897 RALBP1 Homo sapiens Q15311
Y2H Bait-Prey Pool
25910212
种属内
TSFM P43897 RALBP1 Homo sapiens Q15311
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

TSFM 抗体

目录号 产品名 应用 反应物种
HY-P82779 Elongation Factor Ts Antibody (YA2524) WB Human

关联疾病

疾病名称 别名
Combined Oxidative Phosphorylation Deficiency 3

Fatal Mitochondrial Disease Due To Combined Oxidative Phosphorylation Defect Type 3

COXPD3

Encephalomyopathy, Respiratory Failure, And Lactic Acidosis

Concentric Cardiomyopathy, Hypotonia, And Lactic Acidosis

Fatal Mitochondrial Disease Due To Coxpd3

Concentric Cardiomyopathy Hypotonia And Lactic Acidosis

Encephalomyopathy Respiratory Failure And Lactic Acidosis

Encephalomyopathy With Respiratory Failure And Lactic Acidosis

Combined Oxidative Phosphorylation Deficiency, Type 3

Nephrotic Syndrome, Type 21

NPHS21

Nephrotic Syndrome Type 21

Nephrotic Syndrome 21

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Combined Oxidative Phosphorylation Deficiency
Combined Oxidative Phosphorylation Deficiency 39

COXPD39

Combined Oxidative Phosphorylation Defect Type 39

Gfm2-Related Combined Oxidative Phosphorylation Defect

Combined Oxidative Phosphorylation Deficiency 1

Hepatoencephalopathy Due To Combined Oxidative Phosphorylation Defect Type 1

COXPD1

Early Fatal Progressive Hepatoencephalopathy

Hepatoencephalopathy Due To Coxpd1

Combined Oxidative Phosphorylation Deficiency, Type 1

Hepatoencephalopathy, Early Fatal Progressive

Hepatoencephalopathy Early Fatal Progressive

Combined Oxidative Phosphorylation Deficiency 4

COXPD4

Combined Oxidative Phosphorylation Defect Type 4

Combined Oxidative Phosphorylation Deficiency, Type 4

Nephrotic Syndrome, Type 2

NPHS2

Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

Srn1

Nephrotic Syndrome Type 2

Steroid-Resistant Autosomal Recessive Nephrotic Syndrome

Nephrotic Syndrome 2

Autosomal Recessive Steroid-Resistant Nephrotic Syndrome

Srn

Nephrotic Syndrome, Type 2, Susceptibility To

Idiopathic Nephrotic Syndrome

Metabolic Acidosis
Myopathy, Lactic Acidosis, And Sideroblastic Anemia
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

Endemic Typhus

Murine Typhus

Cat Flea Rickettsiosis

Fleaborne Typhus

Rat-Flea Typhus

Rickettsia Felis Spotted Fever

Shop Typhus

Toulon Typhus

Urban Typhus

Urban Typhus Of Malaya

Flea-Borne Typhus

Endemic Flea-Borne Typhus

Myoclonic Epilepsy Associated With Ragged-Red Fibers

Merrf Syndrome

MERRF

Fukuhara Syndrome

Myoclonic Epilepsy Associated With Ragged Red Fibers

Myoencephalopathy Ragged-Red Fiber Disease

Myoclonic Epilepsy - Ragged Red Fibers

Myoclonus Epilepsy And Ragged Red Fibers

Myoclonus With Epilepsy And With Ragged Red Fibers

Myoclonic Epilepsy With Ragged Red Fibers

Myoclonic Epilepsy With Ragged-Red Fibers

Fukuhara Disease

Myoclonus Epilepsy Associated With Ragged-Red Fibres

Myoclonus With Epilepsy With Ragged Red Fibers

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 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

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 TSFM MGD MGI:1913649
Rattus norvegicus TSFM RGD RGD:1593058
Macaca mulatta TSFM VGNC VGNC:78660
Bos taurus TSFM VGNC VGNC:36413
Felis catus TSFM VGNC VGNC:66612