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

    Gene ID: 72650, updated on 12-May-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    Variation

    Alleles

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

    General gene information

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001134717.2NP_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:58119
      RF-1; RF-1 domain
    2. NM_028310.3NP_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:5897
      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)