The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochon... See more...

Aliases for MTRF1 Gene

Aliases for MTRF1 Gene

  • Mitochondrial Translation Release Factor 1 2 3 5
  • Peptide Chain Release Factor 1, Mitochondrial 3 4
  • Mitochontrial Peptide Chain Release Factor 1 2 3
  • Mitochondrial Translational Release Factor 1 2 3
  • MTTRF1 2 3
  • MtRF-1 3 4
  • MRF-1 3 4
  • RF1 2 3
  • MGC47721 2
  • MTRF1 5
  • MRF1 3

External Ids for MTRF1 Gene

Previous GeneCards Identifiers for MTRF1 Gene

  • GC13M039777
  • GC13M035777
  • GC13M040727
  • GC13M039588
  • GC13M040689
  • GC13M041790
  • GC13M022590

Summaries for MTRF1 Gene

Entrez Gene Summary for MTRF1 Gene

  • The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochondria protein synthesis, a recent publication found no mitochondrial translation release functionality. Multiple alternatively spliced transcript variants have been suggested by mRNA and EST data; however, their full-length natures are not clear. [provided by RefSeq, Jul 2008]

GeneCards Summary for MTRF1 Gene

MTRF1 (Mitochondrial Translation Release Factor 1) is a Protein Coding gene. Diseases associated with MTRF1 include Spastic Ataxia 3 and Deafness, Aminoglycoside-Induced. Gene Ontology (GO) annotations related to this gene include nucleotide binding and translation release factor activity, codon specific. An important paralog of this gene is MTRF1L.

UniProtKB/Swiss-Prot Summary for MTRF1 Gene

  • Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain non-cognate termination stop codons AGG and AGA.

Gene Wiki entry for MTRF1 Gene

Additional gene information for MTRF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTRF1 Gene

Genomics for MTRF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MTRF1 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
GH13J041310 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 611.4 -0.4 -363 4.4 HNRNPL ZNF629 ZNF512 ZNF692 POLR2A BACH1 ZHX2 JUND LARP7 PRDM1 NAA16 MTRF1 RNU6-57P RF00026-287 RGCC
GH13J041262 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 608.4 +48.6 48621 2 CREB1 ZNF629 SIX5 POLR2A GABPA PRDM1 ZNF143 RBFOX2 PKNOX1 PATZ1 MTRF1 lnc-MTRF1-2 piR-50437-139 NAA16 KBTBD7
GH13J041056 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 +250.7 250745 9.7 ZNF221 SP1 HNRNPL GATAD2A CTCF ATF7 TEAD4 PRDM10 REST ZNF629 WBP4 ELF1 TRE-TTC1-2 NAA16 TPTE2P5 LINC00548 MTRF1 RNU6-57P CYCSP34 lnc-KBTBD6-1
GH13J041284 Enhancer 1 Ensembl ENCODE 17.5 +25.6 25606 3.9 CEBPG CREB1 GATAD2A TARDBP REST CTCF CEBPA ATF7 CEBPB SP1 NAA16 MTRF1 RAC1P3 piR-48348-012 KBTBD7
GH13J041231 Enhancer 0.8 Ensembl ENCODE 19.4 +79.5 79515 3 IKZF1 PRDM1 IKZF2 RELB NFIC NBN ZNF335 SPI1 ZNF18 NFIA MTRF1 piR-32214-144 piR-50437-139 lnc-MTRF1-2 KBTBD7 NAA16 LOC101929140 ENSG00000278390
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTRF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTRF1

Genomic Locations for MTRF1 Gene

Genomic Locations for MTRF1 Gene
chr13:41,216,369-41,312,038
(GRCh38/hg38)
Size:
95,670 bases
Orientation:
Minus strand
chr13:41,790,505-41,837,742
(GRCh37/hg19)
Size:
47,238 bases
Orientation:
Minus strand

Genomic View for MTRF1 Gene

Genes around MTRF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTRF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTRF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTRF1 Gene

Proteins for MTRF1 Gene

  • Protein details for MTRF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75570-RF1M_HUMAN
    Recommended name:
    Peptide chain release factor 1, mitochondrial
    Protein Accession:
    O75570
    Secondary Accessions:
    • B4DG01
    • Q5T6Y5
    • Q8IUQ6

    Protein attributes for MTRF1 Gene

    Size:
    445 amino acids
    Molecular mass:
    52306 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MTRF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTRF1 Gene

Post-translational modifications for MTRF1 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 MTRF1 Gene

Domains & Families for MTRF1 Gene

Gene Families for MTRF1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MTRF1 Gene

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

Suggested Antigen Peptide Sequences for MTRF1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55831, highly similar to Peptide chain release factor 1, mitochondrial (B4DG01_HUMAN)
  • Peptide chain release factor 1, mitochondrial (RF1M_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75570

UniProtKB/Swiss-Prot:

RF1M_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 MTRF1: view

Function for MTRF1 Gene

Molecular function for MTRF1 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain non-cognate termination stop codons AGG and AGA.

Phenotypes From GWAS Catalog for MTRF1 Gene

Gene Ontology (GO) - Molecular Function for MTRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003747 translation release factor activity TAS 9838146
GO:0016149 translation release factor activity, codon specific IBA --
GO:0043022 ribosome binding IBA --
genes like me logo Genes that share ontologies with MTRF1: view
genes like me logo Genes that share phenotypes with MTRF1: view

Animal Model Products

CRISPR Products

miRNA for MTRF1 Gene

miRTarBase miRNAs that target MTRF1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTRF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MTRF1 Gene

Localization for MTRF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTRF1 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 MTRF1 gene
Compartment Confidence
mitochondrion 4
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for MTRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS,IBA 21873635
genes like me logo Genes that share ontologies with MTRF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MTRF1 Gene

Pathways & Interactions for MTRF1 Gene

PathCards logo

SuperPathways for MTRF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MTRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006415 translational termination IEA --
GO:0006449 regulation of translational termination TAS 9838146
GO:0070126 mitochondrial translational termination IBA 21873635
genes like me logo Genes that share ontologies with MTRF1: view

No data available for Pathways by source and SIGNOR curated interactions for MTRF1 Gene

Drugs & Compounds for MTRF1 Gene

No Compound Related Data Available

Transcripts for MTRF1 Gene

mRNA/cDNA for MTRF1 Gene

4 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
10 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 MTRF1

Alternative Splicing Database (ASD) splice patterns (SP) for MTRF1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^
SP1: - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - - - -
SP4: - - - - - - - -
SP5: - - - -
SP6: - - - - -
SP7: - - - - -
SP8: - - - - -
SP9: - - - - -
SP10: - - -
SP11: - - -

ExUns: 14a · 14b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for MTRF1 Gene

GeneLoc Exon Structure for
MTRF1

Expression for MTRF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MTRF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MTRF1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (40.0), Heart (18.9), and Fetal Liver (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MTRF1 Gene



Protein tissue co-expression partners for MTRF1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTRF1

SOURCE GeneReport for Unigene cluster for MTRF1 Gene:

Hs.382176

Evidence on tissue expression from TISSUES for MTRF1 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with MTRF1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTRF1 Gene

Orthologs for MTRF1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MTRF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MTRF1 30 31
  • 99.93 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MTRF1 30 31
  • 89.67 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MTRF1 30 31
  • 88.54 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mtrf1 30 17 31
  • 84.49 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mtrf1 30
  • 83.41 (n)
Oppossum
(Monodelphis domestica)
Mammalia MTRF1 31
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MTRF1 31
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MTRF1 30 31
  • 68.82 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MTRF1 31
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mtrf1 30
  • 66.14 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10531 30
Zebrafish
(Danio rerio)
Actinopterygii mtrf1 30 31
  • 63.39 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG5705 31 32
  • 34 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea W03F8.3 31 32
  • 28 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MRF1 31
  • 31 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G47020 30
  • 52.66 (n)
Rice
(Oryza sativa)
Liliopsida Os05g0277300 30
  • 50.63 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 30 (a)
OneToMany
Species where no ortholog for MTRF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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 MTRF1 Gene

ENSEMBL:
Gene Tree for MTRF1 (if available)
TreeFam:
Gene Tree for MTRF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTRF1: view image

Paralogs for MTRF1 Gene

Paralogs for MTRF1 Gene

(1) SIMAP similar genes for MTRF1 Gene using alignment to 3 proteins:

  • RF1M_HUMAN
  • B4DG01_HUMAN
  • Q8N6Z2_HUMAN
genes like me logo Genes that share paralogs with MTRF1: view

Variants for MTRF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTRF1 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
716440 Benign: not provided 41,252,956(-) A/T SYNONYMOUS_VARIANT
778477 Benign: not provided 41,240,402(-) G/A SYNONYMOUS_VARIANT
778478 Benign: not provided 41,260,503(-) T/C SYNONYMOUS_VARIANT
790675 Benign: not provided 41,217,174(-) A/C MISSENSE_VARIANT
rs9315812 - p.Ile407Val

Additional dbSNP identifiers (rs#s) for MTRF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MTRF1 Gene

Variant ID Type Subtype PubMed ID
esv2747301 CNV deletion 23290073
nsv1014 CNV insertion 18451855
nsv1015 CNV insertion 18451855
nsv832587 CNV gain 17160897

Variation tolerance for MTRF1 Gene

Residual Variation Intolerance Score: 81.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.62; 65.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTRF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTRF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTRF1 Gene

Disorders for MTRF1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MTRF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spastic ataxia 3
deafness, aminoglycoside-induced
  • deafness, streptomycin-induced
- elite association - COSMIC cancer census association via MalaCards
Search MTRF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MTRF1

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 MTRF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MTRF1 Gene

Publications for MTRF1 Gene

  1. Identification and cloning of human mitochondrial translational release factor 1 and the ribosome recycling factor. (PMID: 9838146) Zhang Y … Spremulli LL (Biochimica et biophysica acta 1998) 2 3 4
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  3. 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
  4. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 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 MTRF1 Gene

  • Signalway ELISA kits for MTRF1

Sources for MTRF1 Gene