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Aliases for MTRF1 Gene

Aliases for MTRF1 Gene

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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTRF1 Gene

Genomics for MTRF1 Gene

Regulatory Elements for MTRF1 Gene

Enhancers for MTRF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13G041310 1.1 ENCODE 21.6 -48.5 -48472 3.5 HNRNPUL1 PKNOX1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF143 ZNF548 MTRF1 RNU6-57P NAA16
GH13G041284 1.1 Ensembl ENCODE 17.5 -21.8 -21832 2.3 TBP PKNOX1 FOXA2 NFIB SREBF2 SIN3A RARA GTF3C2 POLR3A GATA2 MTRF1 NAA16 RAC1P3
GH13G041314 0.9 Ensembl ENCODE 21.2 -51.5 -51504 1.4 ZIC2 ZNF121 ZNF366 IKZF1 SCRT2 GLIS1 PRDM10 ZNF600 SP7 EGR2 MTRF1 RNU6-57P NAA16
GH13G041056 1.7 Ensembl ENCODE dbSUPER 10.1 +202.5 202505 9.7 MLX CREB3L1 DMAP1 FEZF1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 WBP4 MTRF1 NAA16 RNU6-57P CYCSP34 ELF1
GH13G041231 0.7 ENCODE 19.5 +32.0 31967 1.6 ZNF362 NFIA BHLHE40 HLF TBX21 SREBF1 NFIC RAD51 IKZF1 NBN MTRF1 ENSG00000277662
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MTRF1 on UCSC Golden Path with GeneCards custom track

Promoters for MTRF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000061775 297 1400 PKNOX1 ATF1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ETS1

Genomic Location for MTRF1 Gene

Chromosome:
13
Start:
41,216,369 bp from pter
End:
41,263,797 bp from pter
Size:
47,429 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

Protein Domains for MTRF1 Gene

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

No data available for Gene Families for MTRF1 Gene

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.

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 IEA --
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

Flow Cytometry Products

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 5
cytosol 2

Gene Ontology (GO) - Cellular Components for MTRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA,TAS --
genes like me logo Genes that share ontologies with MTRF1: view

Pathways & Interactions for MTRF1 Gene

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
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

Transcripts for MTRF1 Gene

Unigene Clusters for MTRF1 Gene

Mitochondrial translational release factor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
MTRF1

Expression for MTRF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for MTRF1 Gene



Protein tissue co-expression partners for MTRF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MTRF1 Gene:

MTRF1

SOURCE GeneReport for Unigene cluster for MTRF1 Gene:

Hs.382176

Evidence on tissue expression from TISSUES for MTRF1 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with MTRF1: view

Primer Products

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 34 35
  • 99.93 (n)
dog
(Canis familiaris)
Mammalia MTRF1 34 35
  • 89.67 (n)
cow
(Bos Taurus)
Mammalia MTRF1 34 35
  • 88.54 (n)
mouse
(Mus musculus)
Mammalia Mtrf1 34 16 35
  • 84.49 (n)
rat
(Rattus norvegicus)
Mammalia Mtrf1 34
  • 83.41 (n)
oppossum
(Monodelphis domestica)
Mammalia MTRF1 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTRF1 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTRF1 34 35
  • 68.82 (n)
lizard
(Anolis carolinensis)
Reptilia MTRF1 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtrf1 34
  • 66.14 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10531 34
zebrafish
(Danio rerio)
Actinopterygii mtrf1 34 35
  • 63.39 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5705 36 35
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea W03F8.3 36 35
  • 34 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MRF1 35
  • 31 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G47020 34
  • 52.66 (n)
rice
(Oryza sativa)
Liliopsida Os05g0277300 34
  • 50.63 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
OneToMany
Species where no ortholog for MTRF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for MTRF1 Gene

Paralogs for MTRF1 Gene

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

genes like me logo Genes that share paralogs with MTRF1: view

Variants for MTRF1 Gene

Sequence variations from dbSNP and Humsavar for MTRF1 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1000042901 -- 41,247,541(+) GTCTT(A/C)TGTAC intron-variant
rs1000045505 -- 41,284,807(+) CGCCA(C/T)CACAA intron-variant
rs1000099158 -- 41,290,652(+) CCTCC(C/T)AAAGT intron-variant
rs1000171773 -- 41,267,994(+) CCAGC(A/G)TCTTC intron-variant
rs1000222514 -- 41,268,353(+) AAGAC(-/TT)AATTT intron-variant

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)

Relevant External Links for MTRF1 Gene

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

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

Disorders for MTRF1 Gene

Relevant External Links for MTRF1

Genetic Association Database (GAD)
MTRF1
Human Genome Epidemiology (HuGE) Navigator
MTRF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTRF1

No disorders were found for MTRF1 Gene.

No data available for MalaCards , 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 L.L. (Biochim. Biophys. Acta 1998) 2 3 4 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. mtRF1a is a human mitochondrial translation release factor decoding the major termination codons UAA and UAG. (PMID: 17803939) Soleimanpour-Lichaei H.R. … Chrzanowska-Lightowlers Z. (Mol. Cell 2007) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 3 4 64

Products for MTRF1 Gene

Sources for MTRF1 Gene

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