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Aliases for MTRF1L Gene

Aliases for MTRF1L Gene

  • Mitochondrial Translational Release Factor 1 Like 2 3 5
  • Mitochondrial Translational Release Factor 1-Like 2 4
  • MtRF1a 3 4
  • Peptide Chain Release Factor 1-Like, Mitochondrial 3
  • Mitochondrial Release Factor 1 Like 3
  • HMRF1L 3
  • MTRF1A 4
  • MRF1L 3

External Ids for MTRF1L Gene

Previous GeneCards Identifiers for MTRF1L Gene

  • GC06M153264
  • GC06M153340
  • GC06M153401
  • GC06M153351
  • GC06M153308
  • GC06M150871

Summaries for MTRF1L Gene

Entrez Gene Summary for MTRF1L Gene

  • 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]

GeneCards Summary for MTRF1L Gene

MTRF1L (Mitochondrial Translational Release Factor 1 Like) is a Protein Coding gene. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation. Gene Ontology (GO) annotations related to this gene include translation release factor activity and translation release factor activity, codon specific. An important paralog of this gene is MTRF1.

UniProtKB/Swiss-Prot for MTRF1L Gene

  • Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain termination codons UAA and UAG.

Gene Wiki entry for MTRF1L Gene

Additional gene information for MTRF1L Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTRF1L Gene

Genomics for MTRF1L Gene

GeneHancer (GH) Regulatory Elements for MTRF1L Gene

Promoters and enhancers for MTRF1L Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J153001 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 700.8 +0.1 119 3 HDGF PKNOX1 ARNT MLX ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B MTRF1L GC06P153002 PIR33309 GC06P152985
GH06J152980 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 36.3 +19.7 19723 5.7 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 FBXO5 ENSG00000227627 GC06P152985 PIR33309 MTRF1L LOC105378065 LOC105378066 MTATP6P31 MTCO2P31 MTCO3P31
GH06J152975 Enhancer 0.8 Ensembl ENCODE 52.4 +27.4 27414 0.8 PKNOX1 HLF KLF5 GABPA SP1 FOXK2 ATF3 SCRT2 ATF7 PRDM10 MTRF1L ENSG00000227627 FBXO5 ENSG00000220745
GH06J152978 Enhancer 0.4 Ensembl 27.8 +24.0 24014 0.4 ZNF362 POLR2A MTRF1L ENSG00000227627 FBXO5 ENSG00000220745
GH06J153089 Enhancer 1.2 FANTOM5 Ensembl ENCODE 6 -88.9 -88920 3.8 JUN MAX SIN3A EBF1 BATF IRF4 EED ZSCAN5C ATF7 ZSCAN29 RGS17 MTRF1L PIR48130
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTRF1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MTRF1L gene promoter:
  • Nkx2-5
  • GR-alpha
  • GR
  • Sox5
  • HNF-3beta
  • FOXO3b
  • FOXO3a
  • FOXO3
  • FOXC1
  • HNF-1A

Genomic Locations for MTRF1L Gene

Genomic Locations for MTRF1L Gene
15,454 bases
Minus strand
15,526 bases
Minus strand

Genomic View for MTRF1L Gene

Genes around MTRF1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTRF1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTRF1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTRF1L Gene

Proteins for MTRF1L Gene

  • Protein details for MTRF1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Peptide chain release factor 1-like, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B3KTA0
    • Q3KR06
    • Q5TF44
    • Q5TF50
    • Q96CC5
    • Q96EX4
    • Q96K40

    Protein attributes for MTRF1L Gene

    380 amino acids
    Molecular mass:
    43600 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MTRF1L Gene


neXtProt entry for MTRF1L Gene

Post-translational modifications for MTRF1L Gene

  • Methylation of glutamine in the GGQ triplet is conserved from bacteria to mammals.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MTRF1L Gene

Domains & Families for MTRF1L Gene

Gene Families for MTRF1L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MTRF1L Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the prokaryotic/mitochondrial release factor family.
  • Belongs to the prokaryotic/mitochondrial release factor family.
genes like me logo Genes that share domains with MTRF1L: view

Function for MTRF1L Gene

Molecular function for MTRF1L Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain termination codons UAA and UAG.

Phenotypes From GWAS Catalog for MTRF1L Gene

Gene Ontology (GO) - Molecular Function for MTRF1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003747 translation release factor activity IEA --
genes like me logo Genes that share ontologies with MTRF1L: view
genes like me logo Genes that share phenotypes with MTRF1L: view

Animal Model Products

CRISPR Products

miRNA for MTRF1L Gene

miRTarBase miRNAs that target MTRF1L

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MTRF1L Gene

Localization for MTRF1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTRF1L Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTRF1L gene
Compartment Confidence
mitochondrion 5
cytosol 2

Gene Ontology (GO) - Cellular Components for MTRF1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with MTRF1L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MTRF1L Gene

Pathways & Interactions for MTRF1L Gene

genes like me logo Genes that share pathways with MTRF1L: view

Pathways by source for MTRF1L Gene

Gene Ontology (GO) - Biological Process for MTRF1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006415 translational termination IBA,IEA --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MTRF1L: view

No data available for SIGNOR curated interactions for MTRF1L Gene

Drugs & Compounds for MTRF1L Gene

(1) Drugs for MTRF1L Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
antidepressants Pharma 0
genes like me logo Genes that share compounds with MTRF1L: view

Transcripts for MTRF1L Gene

Unigene Clusters for MTRF1L Gene

Mitochondrial translational release factor 1-like:
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTRF1L Gene

No ASD Table

Relevant External Links for MTRF1L Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MTRF1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MTRF1L Gene

Protein differential expression in normal tissues from HIPED for MTRF1L Gene

This gene is overexpressed in Heart (33.9), NK cells (16.2), and Retina (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MTRF1L Gene

Protein tissue co-expression partners for MTRF1L Gene

NURSA nuclear receptor signaling pathways regulating expression of MTRF1L Gene:


SOURCE GeneReport for Unigene cluster for MTRF1L Gene:


mRNA Expression by UniProt/SwissProt for MTRF1L Gene:

Tissue specificity: Expressed in skeletal muscle (at protein level).

Evidence on tissue expression from TISSUES for MTRF1L Gene

  • Muscle(4.2)
  • Eye(4.1)
  • Skin(4.1)
  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with MTRF1L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTRF1L Gene

Orthologs for MTRF1L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MTRF1L Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MTRF1L 34 33
  • 99.3 (n)
(Canis familiaris)
Mammalia MTRF1L 34 33
  • 89.21 (n)
(Bos Taurus)
Mammalia MTRF1L 34 33
  • 87.72 (n)
(Rattus norvegicus)
Mammalia Mtrf1l 33
  • 82.03 (n)
(Mus musculus)
Mammalia Mtrf1l 16 34 33
  • 81.49 (n)
(Ornithorhynchus anatinus)
Mammalia MTRF1L 34
  • 77 (a)
(Monodelphis domestica)
Mammalia MTRF1L 34
  • 76 (a)
(Gallus gallus)
Aves MTRF1L 34 33
  • 72.74 (n)
(Anolis carolinensis)
Reptilia MTRF1L 34
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mtrf1l 33
  • 71.76 (n)
Str.13385 33
(Danio rerio)
Actinopterygii LOC100333733 33
  • 62.66 (n)
mtrf1l 34
  • 59 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012082 33
  • 52.4 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5705 34 33
  • 51.21 (n)
(Caenorhabditis elegans)
Secernentea W03F8.3 34 33
  • 47.35 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MRF1 36 34 33
  • 49.78 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E14807g 33
  • 49.39 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL284C 33
  • 45.92 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons APG3 33
  • 52.23 (n)
(Oryza sativa)
Liliopsida Os11g0657100 33
  • 51.98 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC2F7.17 33
  • 50.28 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06721 33
  • 43.74 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 33 (a)
Species where no ortholog for MTRF1L was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MTRF1L Gene

Gene Tree for MTRF1L (if available)
Gene Tree for MTRF1L (if available)
Evolutionary constrained regions (ECRs) for MTRF1L: view image

Paralogs for MTRF1L Gene

Paralogs for MTRF1L Gene

(1) SIMAP similar genes for MTRF1L Gene using alignment to 4 proteins:

  • H0UI12_HUMAN
  • Q5TF45_HUMAN Pseudogenes for MTRF1L Gene

genes like me logo Genes that share paralogs with MTRF1L: view

Variants for MTRF1L Gene

Sequence variations from dbSNP and Humsavar for MTRF1L Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000005373 -- 153,008,883(-) A/G upstream_transcript_variant
rs1000054607 -- 153,009,291(-) C/G upstream_transcript_variant
rs1000141447 -- 153,000,167(-) G/C intron_variant
rs1000487906 -- 153,009,119(-) C/G upstream_transcript_variant
rs1000618169 -- 153,000,483(-) T/C intron_variant

Variation tolerance for MTRF1L Gene

Residual Variation Intolerance Score: 68.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.93; 79.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTRF1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MTRF1L Gene

Disorders for MTRF1L Gene

Additional Disease Information for MTRF1L

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for MTRF1L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MTRF1L Gene

Publications for MTRF1L Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  2. The human mitochondrial translation release factor HMRF1L is methylated in the GGQ motif by the methyltransferase HMPrmC. (PMID: 18541145) Ishizawa T … Takeuchi N (Biochemical and biophysical research communications 2008) 3 4 58
  3. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira AR … Marazita ML (Genetics in medicine : official journal of the American College of Medical Genetics 2008) 3 44 58
  4. mtRF1a is a human mitochondrial translation release factor decoding the major termination codons UAA and UAG. (PMID: 17803939) Soleimanpour-Lichaei HR … Chrzanowska-Lightowlers Z (Molecular cell 2007) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for MTRF1L Gene

Sources for MTRF1L Gene

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