1. Gene
  2. MTFMT - mitochondrial methionyl-tRNA formyltransferase Gene

MTFMT - mitochondrial methionyl-tRNA formyltransferase Gene

中文名称:线粒体甲硫氨酰-tRNA 甲酰转移酶

种属: Homo sapiens

同用名: FMT1; COXPD15; MC1DN27

基因 ID: 123263 | 基因类型: protein coding

关于 MTFMT

Cytogenetic location: 15q22.31 Genomic coordinates (GRCh38): 15:65,001,512-65,029,639 (from NCBI)

This gene has 7 transcripts (splice variants), 200 orthologues and is associated with 4 phenotypes. Ubiquitous expression in colon (RPKM 2.7), kidney (RPKM 2.6) and 25 other tissues.

功能概要

由该核基因编码的蛋白质定位于线粒体,在那里它催化甲硫氨酰-tRNA 的甲酰化。[RefSeq 提供,2011 年 6 月]

The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011]

MTFMT 基因产物(1)

mRNA Protein Name
NM_139242.4 NP_640335.2 methionyl-tRNA formyltransferase, mitochondrial
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 methionyl-tRNA formyltransferase activity IDA
IDA: 通过直接分析推断
25288793 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in conversion of methionyl-tRNA to N-formyl-methionyl-tRNA IDA
IDA: 通过直接分析推断
25288793 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

MTFMT 蛋白结构

Formyl_trans_N

Formyl_trans_N: Formyl transferase (117 - 220)

Formyl_trans_C

Formyl_trans_C: Formyl transferase, C-terminal domain (243 - 349)

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

methionyl-tRNA formyltransferase, mitochondrial

关联疾病

疾病名称 别名
Combined Oxidative Phosphorylation Deficiency 15

COXPD15

Combined Oxidative Phosphorylation Defect Type 15

Combined Oxidative Phosphorylation Deficiency, Type 15

Mitochondrial Complex I Deficiency, Nuclear Type 27

MC1DN27

Mitochondrial Complex 1 Deficiency, Nuclear Type 27

Nuclear Type Mitochondrial Complex I Deficiency 27

Mitochondrial Oxidative Phosphorylation Disorder

Oxphos Disease

Mitochondrial Respiratory Chain Disorders

Oxphos - [Oxidative Phosphorylation] Diseases

Leigh Syndrome With Leukodystrophy

Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy

Leigh Disease With Leukodystrophy

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

Combined Oxidative Phosphorylation Deficiency 24

COXPD24

Combined Oxidative Phosphorylation Defect Type 24

Oxidative Phosphorylation Deficiency, Combined, Type 24

Combined Oxidative Phosphorylation Deficiency
Combined Oxidative Phosphorylation Deficiency 12

COXPD12

Ltbl

Leukoencephalopathy With Thalamus And Brainstem Involvement And High Lactate

Leukoencephalopathy-Thalamus And Brainstem Anomalies-High Lactate Syndrome

Combined Oxidative Phosphorylation Defect Type 12

Combined Oxidative Phosphorylation Deficiency, Type 12

Cardiomyopathy, Infantile Hypertrophic

Infantile Hypertrophic Cardiomyopathy

CMHI

Leukodystrophy

Leukodystrophies

Myopathy

Muscular Diseases

Myopathies

Moyamoya Disease 1

Moyamoya Disease

Spontaneous Occlusion Of The Circle Of Willis

Mymy

Progressive Intracranial Arterial Occlusion

Moyamoya Syndrome

MYMY1

Cerebrovascular Moyamoya Disease

Moya-Moya Disease

Progressive Intracranial Occlusive Arteropathy

Idiopathic Moyamoya Disease

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
Mus musculus MTFMT MGD MGI:1916856
Rattus norvegicus MTFMT RGD RGD:1309462
Canis familiaris MTFMT VGNC VGNC:43468
Bos taurus MTFMT VGNC VGNC:31724
Felis catus MTFMT VGNC VGNC:63648