This gene encodes a ribosome recycling factor, which is a component of the mitochondrial translational machinery. The encoded protein, along with mitochondrial elongation factor 2, functions in ribosomal recycling at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA. A pseudogene of this gene has been identified on chromos... See more...

Aliases for MRRF Gene

Aliases for MRRF Gene

  • Mitochondrial Ribosome Recycling Factor 2 3 5
  • RRF 2 3 4
  • Ribosome-Recycling Factor, Mitochondrial 3 4
  • Ribosome-Releasing Factor, Mitochondrial 3 4
  • MTRRF 3
  • MRFF 3
  • MRRF 5

External Ids for MRRF Gene

Previous GeneCards Identifiers for MRRF Gene

  • GC09U990093
  • GC09P116679
  • GC09P118480
  • GC09P120409
  • GC09P120403
  • GC09P122106
  • GC09P124066
  • GC09P125026
  • GC09P094641

Summaries for MRRF Gene

Entrez Gene Summary for MRRF Gene

  • This gene encodes a ribosome recycling factor, which is a component of the mitochondrial translational machinery. The encoded protein, along with mitochondrial elongation factor 2, functions in ribosomal recycling at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Oct 2016]

GeneCards Summary for MRRF Gene

MRRF (Mitochondrial Ribosome Recycling Factor) is a Protein Coding gene. Diseases associated with MRRF include Uremic Neuropathy and Basidiobolomycosis. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation.

UniProtKB/Swiss-Prot Summary for MRRF Gene

  • Responsible for the release of ribosomes from messenger RNA at the termination of protein biosynthesis. May increase the efficiency of translation by recycling ribosomes from one round of translation to another (By similarity).

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

Genomics for MRRF Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRRF 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
GH09J122263 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.2 159 3.4 SP1 MYC IKZF1 ZNF580 ZNF592 ZMYM3 ATF2 POLR2A ZSCAN16 BRCA1 RBM18 MN298651 MRRF lnc-RBM18-1 ZBTB26 ENSG00000261094 LHX6 RC3H2 ZBTB6
GH09J122270 Promoter 0.3 EPDnew 250.4 +6.2 6215 0.1 HSALNG0074230 MRRF LHX6 PTGS1 OR1K1 RBM18 lnc-RBM18-2
GH09J121275 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 19.5 -981.8 -981798 15.3 NCOR1 ZNF654 ZNF600 IKZF1 MYC SSRP1 JUND ZNF592 ZMYM3 CEBPA ENSG00000239593 MRRF PSMD5 CNTRL FBXW2 CUTALP GSN GGTA1 C5 STOM
GH09J121397 Enhancer 1.2 FANTOM5 Ensembl ENCODE 30 -865.7 -865702 3.4 ZNF654 IKZF1 ZNF592 CTCF REST CEBPB TRIM22 ZEB1 ZNF623 RAD21 GGTA1 PSMD5 CNTRL FBXW2 MRRF CUTALP ENSG00000227355 STOM GSN-AS1 ENSG00000239593
GH09J121366 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.7 -894.7 -894719 8.6 NCOR1 IKZF1 MYC ZNF600 SSRP1 ZNF592 ZMYM3 POLR2A CEBPA NFIC STOM ENSG00000227355 LOC102723324 GGTA1 CUTALP PSMD5 MRRF CNTRL FBXW2 lnc-STOM-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the MRRF gene promoter:
  • E47
  • FOXD3
  • FOXF2
  • Hand1
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • POU3F1
  • Sox5

Genomic Locations for MRRF Gene

Latest Assembly
chr9:122,264,603-122,331,337
(GRCh38/hg38)
Size:
66,735 bases
Orientation:
Plus strand

Previous Assembly
chr9:125,027,161-125,093,616
(GRCh37/hg19 by Entrez Gene)
Size:
66,456 bases
Orientation:
Plus strand

chr9:125,026,882-125,085,743
(GRCh37/hg19 by Ensembl)
Size:
58,862 bases
Orientation:
Plus strand

Genomic View for MRRF Gene

Genes around MRRF on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MRRF Gene

Proteins for MRRF Gene

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

    Protein Symbol:
    Q96E11-RRFM_HUMAN
    Recommended name:
    Ribosome-recycling factor, mitochondrial
    Protein Accession:
    Q96E11
    Secondary Accessions:
    • A8K6D8
    • A8K6Z4
    • B7Z4X5
    • B7Z6P7
    • Q5RKT1
    • Q5T7T0
    • Q5T7T1
    • Q5T7T2
    • Q5T7T3
    • Q5T7T4
    • Q5T7T5

    Protein attributes for MRRF Gene

    Size:
    262 amino acids
    Molecular mass:
    29277 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MRRF Gene

    Alternative splice isoforms for MRRF Gene

neXtProt entry for MRRF Gene

Post-translational modifications for MRRF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MRRF Gene

Domains & Families for MRRF Gene

Gene Families for MRRF Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MRRF Gene

InterPro:
Blocks:
  • Ribosome recycling factor

Suggested Antigen Peptide Sequences for MRRF Gene

GenScript: Design optimal peptide antigens:
  • Ribosome-releasing factor, mitochondrial (RRFM_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96E11

UniProtKB/Swiss-Prot:

RRFM_HUMAN :
  • Belongs to the RRF family.
Family:
  • Belongs to the RRF family.
genes like me logo Genes that share domains with MRRF: view

Function for MRRF Gene

Molecular function for MRRF Gene

UniProtKB/Swiss-Prot Function:
Responsible for the release of ribosomes from messenger RNA at the termination of protein biosynthesis. May increase the efficiency of translation by recycling ribosomes from one round of translation to another (By similarity).
GENATLAS Biochemistry:
mitochondrial ribosome recycling factor,mitochondrial translational factor 1,widely expressed

Phenotypes From GWAS Catalog for MRRF Gene

Gene Ontology (GO) - Molecular Function for MRRF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0043023 ribosomal large subunit binding IBA 21873635
genes like me logo Genes that share ontologies with MRRF: view
genes like me logo Genes that share phenotypes with MRRF: view

miRNA for MRRF Gene

miRTarBase miRNAs that target MRRF

Inhibitory RNAs for research

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

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

Localization for MRRF Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRRF 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 MRRF gene
Compartment Confidence
mitochondrion 5
cytosol 3
cytoskeleton 2
nucleus 2
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Microtubules (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MRRF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA 21873635
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with MRRF: view

Pathways & Interactions for MRRF Gene

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

Pathways by source for MRRF Gene

Gene Ontology (GO) - Biological Process for MRRF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IBA 21873635
GO:0032790 ribosome disassembly IDA 19716793
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRRF: view

No data available for SIGNOR curated interactions for MRRF Gene

Drugs & Compounds for MRRF Gene

No Compound Related Data Available

Transcripts for MRRF Gene

mRNA/cDNA for MRRF Gene

9 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

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

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

Relevant External Links for MRRF Gene

GeneLoc Exon Structure for
MRRF

Expression for MRRF Gene

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

Protein differential expression in normal tissues from HIPED for MRRF Gene

This gene is overexpressed in Peripheral blood mononuclear cells (6.9).

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



Protein tissue co-expression partners for MRRF Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for MRRF Gene:

Hs.368011

Evidence on tissue expression from TISSUES for MRRF Gene

  • Nervous system(4.7)
  • Muscle(4.5)
  • Lung(4.3)
  • Skin(2.4)
genes like me logo Genes that share expression patterns with MRRF: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRRF Gene

Orthologs for MRRF Gene

This gene was present in the common ancestor of animals.

Orthologs for MRRF Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MRRF 29 30
  • 99.24 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MRRF 29 30
  • 90.2 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MRRF 29 30 30
  • 90.2 (n)
OneToMany
Mouse
(Mus musculus)
Mammalia Mrrf 29 16 30
  • 86.77 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mrrf 29
  • 86.51 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MRRF 30
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MRRF 29 30
  • 67.82 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mrrf 29
  • 64.01 (n)
Zebrafish
(Danio rerio)
Actinopterygii mrrf 29 30
  • 65.87 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG4447 29 30
  • 49.56 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006804 29
  • 47.14 (n)
Species where no ortholog for MRRF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MRRF Gene

ENSEMBL:
Gene Tree for MRRF (if available)
TreeFam:
Gene Tree for MRRF (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRRF: view image
Alliance of Genome Resources:
Additional Orthologs for MRRF

Paralogs for MRRF Gene

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

  • RRFM_HUMAN

Pseudogenes.org Pseudogenes for MRRF Gene

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

No data available for Paralogs for MRRF Gene

Variants for MRRF Gene

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

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs2297483 Uncertain Significance: not specified 122,313,321(+) A/Gp.Met216Val
NM_138777.5(MRRF):c.646A>G (p.Met216Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MRRF Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv476505 CNV novel sequence insertion 20440878
nsv6703 CNV insertion 18451855
nsv831716 CNV gain 17160897

Variation tolerance for MRRF Gene

Residual Variation Intolerance Score: 66.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.91; 35.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRRF Gene

Human Gene Mutation Database (HGMD)
MRRF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRRF
Leiden Open Variation Database (LOVD)
MRRF

SNP Genotyping and Copy Number Assays for research

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

Disorders for MRRF Gene

MalaCards: The human disease database

(11) MalaCards diseases for MRRF Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search MRRF in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MRRF

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

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

Publications for MRRF 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 22
  2. Assignment of the human mitochondrial translational release factor 1 (MTRF1) to chromosome 13q14.1-->q14.3 and of the human mitochondrial ribosome recycling factor (MRRF) to chromosome 9q32-->q34.1 with radiation hybrid mapping. (PMID: 10773675) Hansen LL … Justesen J (Cytogenetics and cell genetics 2000) 2 3 22
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  5. The human mitochondrial ribosome recycling factor is essential for cell viability. (PMID: 18782833) Rorbach J … Chrzanowska-Lightowlers ZM (Nucleic acids research 2008) 3 22

Products for MRRF Gene

Sources for MRRF Gene