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

MTRF1L - mitochondrial translation release factor 1 like Gene

Homo sapiens

Also known as MRF1L; HMRF1L; mtRF1a

Gene ID: 54516 | Gene type: protein coding

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

MTRF1L Protein Structure

PCRF

PCRF: PCRF domain (86 - 196)

RF-1

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

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  • 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

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