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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 3 4
  • MtRF1a 3 4
  • Peptide Chain Release Factor 1-Like, Mitochondrial 3
  • Mitochondrial Release Factor 1 Like 3
  • HMRF1L 3
  • 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 Mitochondrial translation and Organelle biogenesis and maintenance. 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

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

Genomics for MTRF1L Gene

Regulatory Elements for MTRF1L Gene

Enhancers for MTRF1L 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around MTRF1L on UCSC Golden Path with GeneCards custom track

Promoters for MTRF1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for MTRF1L Gene

Chromosome:
6
Start:
152,987,362 bp from pter
End:
153,002,815 bp from pter
Size:
15,454 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

Protein Domains for MTRF1L Gene

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

No data available for Gene Families for MTRF1L Gene

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.

Gene Ontology (GO) - Molecular Function for MTRF1L Gene

GO ID Qualified GO term Evidence PubMed IDs
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 Model Products

CRISPR Products

miRNA for MTRF1L Gene

miRTarBase miRNAs that target MTRF1L

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MTRF1L Gene 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

Pathways & Interactions for MTRF1L Gene

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

Pathways by source for MTRF1L Gene

Interacting Proteins for MTRF1L Gene

Gene Ontology (GO) - Biological Process for MTRF1L Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for MTRF1L Gene

GeneLoc Exon Structure for
MTRF1L
ECgene alternative splicing isoforms for
MTRF1L

Expression for MTRF1L Gene

mRNA expression in normal human tissues 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, PaxDb, MaxQB, and MOPED for MTRF1L Gene



Protein tissue co-expression partners for MTRF1L Gene

NURSA nuclear receptor signaling pathways regulating expression of MTRF1L Gene:

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).
genes like me logo Genes that share expression patterns with MTRF1L: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia MTRF1L 34
  • 87.72 (n)
  • 85.79 (a)
MTRF1L 35
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MTRF1L 34
  • 89.21 (n)
  • 86.05 (a)
MTRF1L 35
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mtrf1l 34
  • 81.49 (n)
  • 82.75 (a)
Mtrf1l 16
Mtrf1l 35
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mtrf1l 34
  • 82.03 (n)
  • 82.75 (a)
oppossum
(Monodelphis domestica)
Mammalia MTRF1L 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTRF1L 35
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MTRF1L 35
  • 98 (a)
OneToOne
MTRF1L 34
  • 99.3 (n)
  • 98.42 (a)
chicken
(Gallus gallus)
Aves MTRF1L 34
  • 72.74 (n)
  • 70.87 (a)
MTRF1L 35
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTRF1L 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtrf1l 34
  • 71.76 (n)
  • 73.89 (a)
Str.13385 34
zebrafish
(Danio rerio)
Actinopterygii LOC100333733 34
  • 62.66 (n)
  • 59.76 (a)
mtrf1l 35
  • 59 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012082 34
  • 52.4 (n)
  • 54.55 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5705 34
  • 51.21 (n)
  • 47.32 (a)
CG5705 35
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W03F8.3 34
  • 47.35 (n)
  • 37.38 (a)
W03F8.3 35
  • 29 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL284C 34
  • 45.92 (n)
  • 45.32 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E14807g 34
  • 49.39 (n)
  • 40.49 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MRF1 34
  • 49.78 (n)
  • 43.05 (a)
MRF1 35
  • 32 (a)
OneToMany
MRF1 37
thale cress
(Arabidopsis thaliana)
eudicotyledons APG3 34
  • 52.23 (n)
  • 42.68 (a)
rice
(Oryza sativa)
Liliopsida Os11g0657100 34
  • 51.98 (n)
  • 42.77 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06721 34
  • 43.74 (n)
  • 33.75 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC2F7.17 34
  • 50.28 (n)
  • 41.36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 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)

Paralogs for MTRF1L Gene

Paralogs for MTRF1L Gene

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

Pseudogenes.org 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 Sequence Context AA Info Type
rs3818125 - 153,002,574(+) CCGGG(C/T)GAACA nc-transcript-variant, reference, missense, utr-variant-5-prime
rs3818123 - 153,002,459(+) GCTCC(C/T)GCTCC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs12660881 - 152,994,671(+) TCTAA(A/G)GCCAC nc-transcript-variant, reference, missense
rs3192723 - 152,994,560(-) GCCGC(A/G)TCCAT nc-transcript-variant, reference, missense
rs766127 -- 152,992,697(+) CCCAC(A/G)GAGTA 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)

Relevant External Links 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

Relevant External Links for MTRF1L

Genetic Association Database (GAD)
MTRF1L
Human Genome Epidemiology (HuGE) Navigator
MTRF1L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTRF1L

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 S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 65
  2. The human mitochondrial translation release factor HMRF1L is methylated in the GGQ motif by the methyltransferase HMPrmC. (PMID: 18541145) Ishizawa T. … Takeuchi N. (Biochem. Biophys. Res. Commun. 2008) 3 4 65
  3. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira A.R. … Marazita M.L. (Genet. Med. 2008) 3 46 65
  4. 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 65
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65

Products for MTRF1L Gene

Sources for MTRF1L Gene

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