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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
  • 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

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

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
GH06H153001 1.1 ENCODE 50.8 +0.1 119 2 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766 SP3 MTRF1L GC06P153002 PIR33309 GC06P152985
GH06H152975 0.9 Ensembl ENCODE 52.3 +27.4 27415 0 PKNOX1 ATF3 FOXK2 HLF SCRT2 PRDM10 ATF7 GABPA MTRF1L ENSG00000227627 ENSG00000220745
GH06H152980 1.1 ENCODE 36.3 +19.7 19724 5 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 FOS FBXO5 MTRF1L LOC105378065 LOC105378066 MTCO2P31 MTCO3P31 MTATP6P31 MTND4P13 RPL27AP6 ENSG00000227627
GH06H152978 0.4 Ensembl 27.8 +24.0 24015 0 ZNF362 POLR2A MTRF1L ENSG00000227627 ENSG00000220745
GH06H153089 1.4 FANTOM5 Ensembl ENCODE 6 -88.9 -88920 3 JUN MAX EBF1 BATF EED ZSCAN5C FOS ATF7 ZSCAN29 ETV6 RGS17 MTRF1L PIR48130
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000205458 115 2601 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766 SP3

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

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

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 --
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

  • Applied Biological Materials Clones for MTRF1L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
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 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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MTRF1L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 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, 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).

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

Primer Products

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 33 34
  • 99.3 (n)
dog
(Canis familiaris)
Mammalia MTRF1L 33 34
  • 89.21 (n)
cow
(Bos Taurus)
Mammalia MTRF1L 33 34
  • 87.72 (n)
rat
(Rattus norvegicus)
Mammalia Mtrf1l 33
  • 82.03 (n)
mouse
(Mus musculus)
Mammalia Mtrf1l 33 16 34
  • 81.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MTRF1L 34
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTRF1L 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTRF1L 33 34
  • 72.74 (n)
lizard
(Anolis carolinensis)
Reptilia MTRF1L 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtrf1l 33
  • 71.76 (n)
Str.13385 33
zebrafish
(Danio rerio)
Actinopterygii LOC100333733 33
  • 62.66 (n)
mtrf1l 34
  • 59 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012082 33
  • 52.4 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5705 33 34
  • 51.21 (n)
worm
(Caenorhabditis elegans)
Secernentea W03F8.3 33 34
  • 47.35 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MRF1 33 34 36
  • 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)
rice
(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)
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
rs1000005373 -- 153,008,883(+) AGAAA(A/G)TTAGT upstream-variant-2KB
rs1000054607 -- 153,009,291(+) TATCA(C/G)AGTAT upstream-variant-2KB
rs1000141447 -- 153,000,167(+) GAAAT(C/G)AAAGT intron-variant
rs1000487906 -- 153,009,119(+) AACGG(C/G)CCTTA upstream-variant-2KB
rs1000618169 -- 153,000,483(+) GGCAA(C/T)GGTAA 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 SL … O'Brien SJ (PloS one 2010) 3 45 60
  2. 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 45 60
  3. 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 60
  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 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for MTRF1L Gene

Sources for MTRF1L Gene

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