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Mtrfr mitochondrial translation release factor in rescue [ Mus musculus (house mouse) ]

Gene ID: 72650, updated on 5-Mar-2024

Summary

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Official Symbol
Mtrfrprovided by MGI
Official Full Name
mitochondrial translation release factor in rescueprovided by MGI
Primary source
MGI:MGI:1919900
See related
Ensembl:ENSMUSG00000047635 AllianceGenome:MGI:1919900
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
2810006K23Rik
Summary
Predicted to enable ribosomal large subunit binding activity and tRNA binding activity. Predicted to be involved in rescue of stalled ribosome. Predicted to act upstream of or within translation. Predicted to be active in mitochondrion. Is expressed in embryo. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 7 and hereditary spastic paraplegia 55. Orthologous to human MTRFR (mitochondrial translation release factor in rescue). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 2.4), limb E14.5 (RPKM 1.9) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Mtrfr in Genome Data Viewer
Location:
5 F; 5 63.52 cM
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (124466152..124479915)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (124328089..124341852)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol transfer protein, membrane-associated 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:124682259-124682612 Neighboring gene phosphatidylinositol transfer protein, membrane-associated 2, opposite strand 1 Neighboring gene STARR-seq mESC enhancer starr_14333 Neighboring gene M-phase phosphoprotein 9 Neighboring gene cyclin dependent kinase 2 associated protein 1 Neighboring gene strawberry notch 1 Neighboring gene STARR-seq mESC enhancer starr_14338

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Solution structure and siRNA-mediated knockdown analysis of the mitochondrial disease-related protein C12orf65. Kogure H, et al. Proteins, 2012 Nov. PMID 22821833
  2. The trafficking protein Tmed2/p24beta(1) is required for morphogenesis of the mouse embryo and placenta. Jerome-Majewska LA, et al. Dev Biol, 2010 May 1. PMID 20178780, Free PMC Article
  3. EUCOMM--the European conditional mouse mutagenesis program. Friedel RH, et al. Brief Funct Genomic Proteomic, 2007 Sep. PMID 17967808
  4. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article
  5. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Determined the solution structure of the GGQ-containing domain (GGQ domain) of C12orf65 from mouse by NMR spectroscopy.
    Title: Solution structure and siRNA-mediated knockdown analysis of the mitochondrial disease-related protein C12orf65.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (1) 

General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ribosomal large subunit binding ISO
Inferred from Sequence Orthology
more info
  
enables tRNA binding ISO
Inferred from Sequence Orthology
more info
  
enables translation release factor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in rescue of stalled ribosome ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within translation IEA
Inferred from Electronic Annotation
more info
  
involved_in translational termination IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
mitochondrial translation release factor in rescue
Names
Probable peptide chain release factor C12orf65 homolog, mitochondrial

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001134717.2 → NP_001128189.1  mitochondrial translation release factor in rescue isoform a

    See identical proteins and their annotated locations for NP_001128189.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC127339, AK039255, AK140664, CA548248
    Consensus CDS
    CCDS51647.1
    UniProtKB/Swiss-Prot
    Q3US94, Q80VP5, Q8BYK3, Q9CSJ6
    Related
    ENSMUSP00000076594.3, ENSMUST00000077376.3
    Conserved Domains (1) summary
    pfam00472
    Location:58 → 119
    RF-1; RF-1 domain

  2. NM_028310.3 → NP_082586.1  mitochondrial translation release factor in rescue isoform b

    See identical proteins and their annotated locations for NP_082586.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 3' terminal exon that extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform b which is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC127339, AK039255
    Consensus CDS
    CCDS51648.1
    UniProtKB/Swiss-Prot
    Q80VP5
    Related
    ENSMUSP00000107102.2, ENSMUST00000111477.2
    Conserved Domains (1) summary
    pfam00472
    Location:58 → 97
    RF-1; RF-1 domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    124466152..124479915
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q80VP5.1 GenPept UniProtKB/Swiss-Prot:Q80VP5

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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