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    MRRF mitochondrial ribosome recycling factor [ Homo sapiens (human) ]

    Gene ID: 92399, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MRRFprovided by HGNC
    Official Full Name
    mitochondrial ribosome recycling factorprovided by HGNC
    Primary source
    HGNC:HGNC:7234
    See related
    Ensembl:ENSG00000148187 MIM:604602; AllianceGenome:HGNC:7234
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RRF; MRFF; MTRRF
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 8.8), duodenum (RPKM 7.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRRF in Genome Data Viewer
    Location:
    9q33.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (122264882..122331337)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (134462401..134528846)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (125027161..125093616)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20240 Neighboring gene LIM homeobox 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124988963-124989468 Neighboring gene MPRA-validated peak7328 silencer Neighboring gene RNA binding motif protein 18 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:125026651-125027850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:125098749-125099354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:125099355-125099958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:125105266-125105789 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:125112881-125113087 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:125126021-125127220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:125137981-125138948 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:125145815-125147014 Neighboring gene prostaglandin-endoperoxide synthase 1 Neighboring gene uncharacterized LOC124902264 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:125164273-125165472

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The human mitochondrial ribosome recycling factor is essential for cell viability. Rorbach J, et al. Nucleic Acids Res, 2008 Oct. PMID 18782833, Free PMC Article
    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. Hansen LL, et al. Cytogenet Cell Genet, 2000. PMID 10773675
    3. Identification and cloning of human mitochondrial translational release factor 1 and the ribosome recycling factor. Zhang Y, et al. Biochim Biophys Acta, 1998 Nov 26. PMID 9838146
    4. Structural basis of translation termination, rescue, and recycling in mammalian mitochondria. Kummer E, et al. Mol Cell, 2021 Jun 17. PMID 33878294
    5. EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein synthesis. Tsuboi M, et al. Mol Cell, 2009 Aug 28. PMID 19716793

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein synthesis.
      Title: EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein synthesis.
    4. Depletion of mtRRF in human cell lines is lethal, initially causing profound mitochondrial dysmorphism, aggregation of mitoribosomes and elevated mitochondrial superoxide production.
      Title: The human mitochondrial ribosome recycling factor is essential for cell viability.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ribosomal large subunit binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in ribosome disassembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ribosome-recycling factor, mitochondrial
    Names
    ribosome-releasing factor, 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.

    Genomic

    1. NG_051806.2 RefSeqGene

      Range
      5002..71457
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001173512.3 → NP_001166983.1  ribosome-recycling factor, mitochondrial isoform 3 precursor

      See identical proteins and their annotated locations for NP_001166983.1

      Status: REVIEWED

      Source sequence(s)
      AA873020, AK300718, AL162424, BC013049
      Consensus CDS
      CCDS55336.1
      UniProtKB/Swiss-Prot
      Q96E11
      Related
      ENSP00000297908.3, ENST00000297908.7
      Conserved Domains (1) summary
      pfam01765
      Location:64 → 208
      RRF; Ribosome recycling factor

    2. NM_001346339.2 → NP_001333268.1  ribosome-recycling factor, mitochondrial isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) encodes the longest isoform (4).
      Source sequence(s)
      AA873020, AL162424

    3. NM_001346341.2 → NP_001333270.1  ribosome-recycling factor, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 and 5 encode the same isoform (1).
      Source sequence(s)
      AA873020, AL162424
      Consensus CDS
      CCDS6840.1
      UniProtKB/Swiss-Prot
      A8K6D8, A8K6Z4, B7Z4X5, B7Z6P7, Q5RKT1, Q5T7T0, Q5T7T1, Q5T7T2, Q5T7T3, Q5T7T4, Q5T7T5, Q96E11
      Conserved Domains (1) summary
      pfam01765
      Location:103 → 260
      RRF; Ribosome recycling factor

    4. NM_001346343.2 → NP_001333272.1  ribosome-recycling factor, mitochondrial isoform 5

      Status: REVIEWED

      Source sequence(s)
      AA873020, AK300718, AL162424, BI756457
      Consensus CDS
      CCDS87684.1
      UniProtKB/Swiss-Prot
      Q96E11
      Related
      ENSP00000362834.1, ENST00000373729.5

    5. NM_001346345.2 → NP_001333274.1  ribosome-recycling factor, mitochondrial isoform 6

      Status: REVIEWED

      Source sequence(s)
      AA873020, AL162424

    6. NM_001346347.2 → NP_001333276.1  ribosome-recycling factor, mitochondrial isoform 7

      Status: REVIEWED

      Source sequence(s)
      AA873020, AL162424
      Conserved Domains (1) summary
      pfam01765
      Location:12 → 169
      RRF; Ribosome recycling factor

    7. NM_138777.5 → NP_620132.1  ribosome-recycling factor, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_620132.1

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 and 5 encode the same isoform (1).
      Source sequence(s)
      AA873020, AK291603, AL162424, BC013049
      Consensus CDS
      CCDS6840.1
      UniProtKB/Swiss-Prot
      A8K6D8, A8K6Z4, B7Z4X5, B7Z6P7, Q5RKT1, Q5T7T0, Q5T7T1, Q5T7T2, Q5T7T3, Q5T7T4, Q5T7T5, Q96E11
      Related
      ENSP00000343867.3, ENST00000344641.8
      Conserved Domains (1) summary
      pfam01765
      Location:103 → 260
      RRF; Ribosome recycling factor

    8. NM_199177.4 → NP_954646.1  ribosome-recycling factor, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_954646.1

      Status: REVIEWED

      Source sequence(s)
      AA873020, AK291603, AL162424, BC013049, BC053604, BU543762
      Consensus CDS
      CCDS48013.1
      UniProtKB/Swiss-Prot
      Q96E11
      Related
      ENSP00000362828.4, ENST00000373723.9
      Conserved Domains (1) summary
      pfam01765
      Location:110 → 192
      RRF; Ribosome recycling factor

    RNA

    1. NR_144421.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AA873020, AL162424

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      122264882..122331337
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011519183.3 → XP_011517485.1  ribosome-recycling factor, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011517485.1

      Conserved Domains (1) summary
      pfam01765
      Location:131 → 281
      RRF; Ribosome recycling factor

    2. XM_011519185.4 → XP_011517487.1  ribosome-recycling factor, mitochondrial isoform X2

      Conserved Domains (1) summary
      pfam01765
      Location:131 → 213
      RRF; Ribosome recycling factor

    3. XM_047424067.1 → XP_047280023.1  ribosome-recycling factor, mitochondrial isoform X3

    4. XM_047424068.1 → XP_047280024.1  ribosome-recycling factor, mitochondrial isoform X4

      Related
      ENSP00000395072.1, ENST00000441707.5

    RNA

    1. XR_007061373.1 RNA Sequence

    2. XR_007061372.1 RNA Sequence

    3. XR_007061374.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      134462401..134528846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364157.1 → XP_054220132.1  ribosome-recycling factor, mitochondrial isoform X1

    RNA

    1. XR_008488104.1 RNA Sequence

    2. XR_008488106.1 RNA Sequence

    3. XR_008488105.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_199176.1: Suppressed sequence

      Description
      NM_199176.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96E11.1 GenPept UniProtKB/Swiss-Prot:Q96E11

    Gene LinkOut

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

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