1. Gene
  2. TEFM - transcription elongation factor, mitochondrial Gene

TEFM - transcription elongation factor, mitochondrial Gene

中文名称:转录延伸因子,线粒体

种属: Homo sapiens

同用名: C17orf42

基因 ID: 79736 | 基因类型: protein coding

关于 TEFM

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:30,898,986-30,906,238 (from NCBI)

This gene has 5 transcripts (splice variants) and 190 orthologues. Ubiquitous expression in kidney (RPKM 3.5), placenta (RPKM 3.5) and 25 other tissues.

功能概要

启用 DNA 聚合酶持续合成因子活性。参与线粒体转录和氧化磷酸化。位于线粒体核内。核糖核蛋白复合物的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables DNA Polymerase processivity factor activity. Involved in mitochondrial transcription and Oxidative Phosphorylation. Located in mitochondrial nucleoid. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Apr 2022]

TEFM 基因产物(1)

mRNA Protein Name
NM_024683.4 NP_078959.3 transcription elongation factor, mitochondrial
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA polymerase processivity factor activity IDA
IDA: 通过直接分析推断
21278163 GOA
NOT enables crossover junction DNA endonuclease activity IDA
IDA: 通过直接分析推断
21278163 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21278163 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
NOT involved in mitochondrial DNA replication IMP
IMP: 通过突变表型推断
21278163 GOA
involved in mitochondrial transcription IMP
IMP: 通过突变表型推断
21278163 GOA
involved in oxidative phosphorylation IMP
IMP: 通过突变表型推断
21278163 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
21278163 GOA
located in mitochondrial nucleoid IDA
IDA: 通过直接分析推断
21278163 GOA
part of ribonucleoprotein complex IDA
IDA: 通过直接分析推断
21278163 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

TEFM 蛋白结构

HHH_3

HHH_3: Helix-hairpin-helix motif (77 - 124)

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

transcription elongation factor, mitochondrial

transcription elongation factor of mitochondria

TEFM 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
TEFM Q96QE5 POLRMT Homo sapiens O00411 21278163
种属内
TEFM Q96QE5 POLRMT Homo sapiens O00411 21278163
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
Mitochondrial Dna Depletion Syndrome 8a

Mitochondrial Dna Depletion Syndrome 8b

MTDPS8A

Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy

Mtdna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic, With Renal Tubulopathy, Autosomal Recessive

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related

Rrm2b-Related Mitochondrial Dna Depletion Syndrome

Encephalomyopathic Type With Renal Tubulopathy

Rrm2b-Mds

Encephalomyopathic Mitochondrial Depletion Syndrome With Renal Tubulopathy

Mitochondrial Dna Depletion Syndrome 8a Encephalomyopathic Type With Renal Tubulopathy

Mitochondrial Dna Depletion Syndrome Encephalomyopathic With Renal Tubulopathy Autosomal Recessive

MTDPS8B

Mitochondrial Dna Depletion Syndrome 8b Mngie Type

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Rrm2b-Related

Mngie Rrm2b-Related

Visceral Myopathy Familial External Ophthalmoplegia

Mitochondrial Dna Depletion Syndrome, Type 8a

Mitochondrial Dna Depletion Syndrome 14

MTDPS14

Mitochondrial Dna Depletion Syndrome 14, Cardioencephalomyopathic Type

Mitochondrial Dna Depletion Syndrome, Type 14

Mitochondrial Dna Depletion Syndrome 11

MTDPS11

Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome

Mitochondrial Dna Maintenance Syndrome Due To Mgme1 Deficiency

Peo-Myopathy-Emaciation Syndrome

Mtdna Maintenance Syndrome Due To Mgme1 Deficiency

Mitochondrial Dna Depletion Syndrome, Type 11

Seckel Syndrome 8

SCKL8

Seckel Syndrome, Type 8

Mitochondrial Dna Depletion Syndrome 1

MTDPS1

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related

Myoneurogastrointestinal Encephalopathy Syndrome

Polip Syndrome

Mitochondrial Dna Depletion Syndrome, Type 1

Mngie, Tymp-Related

Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudoobstruction

Mitochondrial Dna Depletion Syndrome 1, Mngie Type

Mitochondrial Neurogastrointestinal Encephalomyopathy

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related

Myoneurogastrointestinal Encephalomyopathy

Polyneuropathy Ophthalmoplegia Leukoencephalopathy And Intestinal Pseudoobstruction

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Cardiomyopathy, Infantile Hypertrophic

Infantile Hypertrophic Cardiomyopathy

CMHI

Chromosome 17q11.2 Deletion Syndrome

Nf1 Microdeletion Syndrome

17q11 Microdeletion Syndrome

Neurofibromatosis Type 1 Microdeletion Syndrome

Van Asperen Syndrome

Del(17)(Q11)

Monosomy 17q11

Chromosome 17q11.2 Deletion Syndrome, 1.4mb

Mitochondrial Dna Depletion Syndrome 4b

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Mngie Syndrome

Thymidine Phosphorylase Deficiency

MTDPS4B

Mitochondrial Neurogastrointestinal Encephalopathy Disease

Mngie

Myoneurogastrointestinal Encephalopathy Syndrome

Ogimd

Oculogastrointestinal Muscular Dystrophy

Polip

Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related

Mngie, Polg-Related

Mepop

Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction

Mngie Disease

Mitochondrial Dna Depletion Syndrome 4b Mngie Type

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related

Mngie Polg-Related

Mitochondrial Dna Depletion Syndrome, Type 4b

Visceral Myopathy Familial External Ophthalmoplegia

Mitochondrial Dna Depletion Syndrome 2

Mitochondrial Dna Depletion Syndrome, Myopathic Form

MTDPS2

Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form

Mitochondrial Dna Depletion Myopathy, Tk2-Related

Tk2-Related Mitochondrial Dna Depletion Myopathy

Mtdna Depletion Syndrome, Myopathic Form

Mitochondrial Dna Depletion Myopathy Tk2-Related

Mitochondrial Dna Depletion Syndrome 2 Myopathic Type

Myopathic Mitochondrial Dna Depletion Syndrome

Mitochondrial Dna Depletion Syndrome, Type 2

Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy

Peripheral Neuropathy And Optic Atrophy

Cmt6

Charcot-Marie-Tooth Disease Type 6

Hmsn Vi

HMSN6A

Hmsn Via

Hmsn6

Cmt6a

Charcot-Marie-Tooth Disease, Type 6

Hereditary Motor And Sensory Neuropathy Type 6

Hereditary Motor And Sensory Neuropathy Type Vi

Neuropathy, Hereditary Motor And Sensory, Type 6a

Neuropathy, Hereditary Motor And Sensory, Type Vi

Charcot-Marie-Tooth Disease, Type 6a

Hereditary Motor And Sensory Neuropathy Via

Hmsn 6

Neuropathy, Hereditary Motor And Sensory, 6a, With Optic Atrophy

Charcot-Marie-Tooth Disease 6

Charcot-Marie-Tooth Disease 6a

Hereditary Motor And Sensory Neuropathy Type Via

Hereditary Motor And Sensory Neuropathy Vi

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
Bos taurus TEFM VGNC VGNC:50118
Macaca mulatta TEFM VGNC VGNC:104664
Canis familiaris TEFM VGNC VGNC:47240
Rattus norvegicus TEFM RGD RGD:1306595
Mus musculus TEFM MGD MGI:1915800
Felis catus TEFM VGNC VGNC:66063