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 mitochondrio... See more...

Aliases for MTRF1L Gene

Aliases for MTRF1L Gene

  • Mitochondrial Translational Release Factor 1 Like 2 3 5
  • MtRF1a 2 3 4
  • Peptide Chain Release Factor 1-Like, Mitochondrial 3 4
  • Mitochondrial Translational Release Factor 1-Like 2 4
  • HMRF1L 2 3
  • Mitochondrial Release Factor 1 Like 3
  • MTRF1L 5
  • 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. Diseases associated with MTRF1L include Spastic Ataxia 3 and Deafness, Aminoglycoside-Induced. 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 Summary 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 , Rfam classification and piRNA Summary for MTRF1L Gene

Genomics for MTRF1L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MTRF1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
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 CraniofacialAtlas 650.7 +1.0 1038 4.4 BRCA1 ARHGAP35 CREB1 GATAD2A ATF7 PRDM10 REST ZNF629 LEF1 IKZF1 MTRF1L lnc-VIP-4 lnc-RGS17-2 lnc-MTRF1L-1 FBXO5 RGS17
GH06J152978 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 48.6 +21.0 20979 6.9 SP1 HNRNPL CREB1 PRDM10 ZNF629 TFE3 LEF1 IKZF1 KDM1A POLR2A FBXO5 ENSG00000227627 piR-40310 MTRF1L lnc-MTRF1L-3 VIP
GH06J152975 Promoter/Enhancer 1 Ensembl ENCODE 52.4 +28.1 28149 0.6 PRDM10 RBFOX2 PKNOX1 SCRT2 NONO ATF3 GABPA CHD1 KLF5 FOXK2 lnc-MTRF1L-3 MTRF1L FBXO5 ENSG00000227627 VIP
GH06J152951 Enhancer 0.7 Ensembl 22.9 +50.9 50938 1.4 CTCF REST TRIM22 SCRT2 RAD21 JUND FOXA2 JUN SMC3 FOSL1 MTRF1L VIP HSALNG0054415 FBXO5 lnc-VIP-2
GH06J153032 Enhancer 0.8 Ensembl ENCODE 17.6 -28.2 -28210 1.7 CEBPG CTCF RAD21 CEBPA CEBPB SP1 FOXA2 SMC3 FOSL2 ZNF654 MTRF1L RGS17 piR-54131-002
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTRF1L

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

Genomic Locations for MTRF1L Gene

Genomic Locations for MTRF1L Gene
chr6:152,987,362-153,003,439
(GRCh38/hg38)
Size:
16,078 bases
Orientation:
Minus strand
chr6:153,308,400-153,323,925
(GRCh37/hg19)
Size:
15,526 bases
Orientation:
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:
    Q9UGC7-RF1ML_HUMAN
    Recommended name:
    Peptide chain release factor 1-like, mitochondrial
    Protein Accession:
    Q9UGC7
    Secondary Accessions:
    • B3KTA0
    • Q3KR06
    • Q5TF44
    • Q5TF50
    • Q96CC5
    • Q96EX4
    • Q96K40

    Protein attributes for MTRF1L Gene

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

    Alternative splice isoforms for MTRF1L Gene

    UniProtKB/Swiss-Prot:

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

InterPro:
Blocks:
  • Class I peptide chain release factor domain
ProtoNet:

Suggested Antigen Peptide Sequences for MTRF1L Gene

GenScript: Design optimal peptide antigens:
  • Mitochondrial translational release factor 1-like, isoform CRA_a (E1P5A5_HUMAN)
  • Mitochondrial translational release factor 1-like, isoform CRA_b (E1P5A6_HUMAN)
  • mtRF1a (RF1ML_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UGC7

UniProtKB/Swiss-Prot:

RF1ML_HUMAN :
  • Belongs to the prokaryotic/mitochondrial release factor family.
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 --
GO:0016149 translation release factor activity, codon specific IBA --
GO:0043022 ribosome binding IBA --
genes like me logo Genes that share ontologies with MTRF1L: view
genes like me logo Genes that share phenotypes with MTRF1L: view

Animal Models for MTRF1L Gene

MGI Knock Outs for MTRF1L:
  • Mtrf1l Mtrf1l<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for MTRF1L Gene

miRTarBase miRNAs that target MTRF1L

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTRF1L

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

Localization for MTRF1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTRF1L Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
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
cytoskeleton 1
nucleus 1

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 IEA --
GO:0070126 mitochondrial translational termination IBA,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

mRNA/cDNA for MTRF1L Gene

6 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTRF1L

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

No ASD Table

Relevant External Links for MTRF1L Gene

GeneLoc Exon Structure for
MTRF1L

Expression for MTRF1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTRF1L

SOURCE GeneReport for Unigene cluster for MTRF1L Gene:

Hs.225836

mRNA Expression by UniProt/SwissProt for MTRF1L Gene:

Q9UGC7-RF1ML_HUMAN
Tissue specificity: Expressed in skeletal muscle (at protein level).

Evidence on tissue expression from TISSUES for MTRF1L Gene

  • Muscle(4.4)
  • Skin(4.3)
  • Eye(4.1)
  • Nervous system(3.2)
  • Kidney(2)
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
Chimpanzee
(Pan troglodytes)
Mammalia MTRF1L 30 31
  • 99.3 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MTRF1L 30 31
  • 89.21 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MTRF1L 30 31
  • 87.72 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mtrf1l 30
  • 82.03 (n)
Mouse
(Mus musculus)
Mammalia Mtrf1l 30 17 31
  • 81.49 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MTRF1L 31
  • 77 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MTRF1L 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MTRF1L 30 31
  • 72.74 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MTRF1L 31
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mtrf1l 30
  • 71.76 (n)
Str.13385 30
Zebrafish
(Danio rerio)
Actinopterygii LOC100333733 30
  • 62.66 (n)
mtrf1l 31
  • 59 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012082 30
  • 52.4 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG5705 30 31
  • 51.21 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea W03F8.3 30 31
  • 47.35 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MRF1 30 31 33
  • 49.78 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E14807g 30
  • 49.39 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADL284C 30
  • 45.92 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons APG3 30
  • 52.23 (n)
Rice
(Oryza sativa)
Liliopsida Os11g0657100 30
  • 51.98 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC2F7.17 30
  • 50.28 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU06721 30
  • 43.74 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
OneToMany
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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for MTRF1L (if available)
TreeFam:
Gene Tree for MTRF1L (if available)
Aminode:
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:

  • RF1ML_HUMAN
  • H0UI12_HUMAN
  • H2KNE8_HUMAN
  • Q5TF45_HUMAN

Pseudogenes.org Pseudogenes for MTRF1L Gene

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

Variants for MTRF1L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTRF1L Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs12660881 - p.Leu177Phe
rs3192723 - p.Val214Ile
rs3818123 - p.Arg76Gln
rs3818125 - p.Thr38Ala

Additional dbSNP identifiers (rs#s) for MTRF1L Gene

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
MTRF1L

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

MalaCards: The human disease database

(2) MalaCards diseases for MTRF1L Gene - From: DISEASES

Disorder Aliases PubMed IDs
spastic ataxia 3
deafness, aminoglycoside-induced
  • deafness, streptomycin-induced
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MTRF1L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MTRF1L: view

No data available for 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 41
  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
  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 41
  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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for MTRF1L Gene

  • Signalway ELISA kits for MTRF1L

Sources for MTRF1L Gene