1. Gene
  2. MTRF1L - mitochondrial translation release factor 1 like Gene

MTRF1L - mitochondrial translation release factor 1 like Gene

中文名称:线粒体翻译释放因子 1

种属: Homo sapiens

同用名: MRF1L; HMRF1L; mtRF1a

基因 ID: 54516 | 基因类型: protein coding

关于 MTRF1L

Cytogenetic location: 6q25.2 Genomic coordinates (GRCh38): 6:152,987,362-153,002,709 (from NCBI)

This gene has 11 transcripts (splice variants), 203 orthologues and 2 paralogues. Ubiquitous expression in thyroid (RPKM 3.9), brain (RPKM 3.7) and 25 other tissues.

功能概要

由该基因编码的蛋白质在线粒体翻译终止中发挥作用,被认为是一种释放因子,参与完整蛋白质与最终 tRNA、核糖体和同源 mRNA 的解离。这种蛋白质作用于 UAA 和 UAG 终止密码子,但对 UGA 没有体外活性,UGA 编码人线粒体中的色氨酸,或线粒体非同源终止密码子 AGA 和 AGG。该蛋白质与细菌释放因子具有序列相似性。该基因的假基因存在于 4、8 和 11 号染色体上。可变剪接导致多个转录变体。[RefSeq 提供,2014 年 9 月]

The protein encoded by this gene plays a role in mitochondrial translation termination, and is thought to be a release factor that is involved in the dissociation of the complete protein from the final tRNA, the ribosome, and the cognate mRNA. This protein acts upon UAA and UAG stop codons, but has no in vitro activity against UGA, which encodes tryptophan in human mitochondrion, or, the mitochondrial non-cognate stop codons, AGA and AGG. This protein shares sequence similarity to Bacterial release factors. Pseudogenes of this gene are found on chromosomes 4, 8, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

MTRF1L 基因产物(6)

mRNA Protein Name
NM_001114184.3 NP_001107656.1 peptide chain release factor 1-like, mitochondrial isoform 3
NM_001301047.3 NP_001287976.1 peptide chain release factor 1-like, mitochondrial isoform 5
NM_001301870.2 NP_001288799.1 peptide chain release factor 1-like, mitochondrial isoform 2
NM_001301871.2 NP_001288800.1 peptide chain release factor 1-like, mitochondrial isoform 4
NM_001301872.2 NP_001288801.1 peptide chain release factor 1-like, mitochondrial isoform 6
NM_019041.7 NP_061914.3 peptide chain release factor 1-like, mitochondrial isoform 1
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 translation release factor activity IDA
IDA: 通过直接分析推断
20075246 GOA
enables translation release factor activity, codon specific IDA
IDA: 通过直接分析推断
17803939 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial translational termination IDA
IDA: 通过直接分析推断
17803939 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in mitochondrion IDA
IDA: 通过直接分析推断
17803939 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

MTRF1L 蛋白结构

PCRF

PCRF: PCRF domain (86 - 196)

RF-1

RF-1: RF-1 domain (228 - 338)

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

peptide chain release factor 1-like, mitochondrial

mitochondrial release factor 1 like

关联疾病

疾病名称 别名
Spastic Ataxia 3
Deafness, Aminoglycoside-Induced

Streptomycin Ototoxicity

Deafness, Mitochondrial, Modifier Of

Aminoglycoside-Induced Deafness

Deafness, Streptomycin-Induced

Streptomycin-Induced Deafness

DFNI

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

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 MTRF1L MGD MGI:1918830
Macaca mulatta MTRF1L VGNC VGNC:104413
Rattus norvegicus MTRF1L RGD RGD:1598312
Canis familiaris MTRF1L VGNC VGNC:53739
Felis catus MTRF1L VGNC VGNC:102471
Bos taurus MTRF1L VGNC VGNC:31751