MTRF1L - mitochondrial translation release factor 1 like Gene

Also Known as MRF1L; HMRF1L; mtRF1a

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54516

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables translation release factor activity IDA
IDA: Inferred from direct assay
20075246 GOA
enables translation release factor activity, codon specific IDA
IDA: Inferred from direct assay
17803939 GOA
Biological Process GO Annotation Evidence References Source
involved in mitochondrial translational termination IDA
IDA: Inferred from direct assay
17803939 GOA
Cellular Component GO Annotation Evidence References Source
is active in mitochondrion IDA
IDA: Inferred from direct assay
17803939 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MTRF1L Protein Structure

PCRF

PCRF: PCRF domain (86 - 196)

RF-1

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

  • 0
  • 100
  • 200
  • 300
  • 380 a.a.
Protein Preferred Names Protein Names

peptide chain release factor 1-like, mitochondrial

  • mitochondrial release factor 1 like

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08818 MTRF1L Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others MTRF1L NCBI