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

Gene ID: 92399, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (122264882..122331337)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (134462401..134528846)
105.20220307 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
  • 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. EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein synthesis. Tsuboi M, et al. Mol Cell, 2009 Aug 28. PMID 19716793
  5. Inhibition of the Mitochondrial Protease ClpP as a Therapeutic Strategy for Human Acute Myeloid Leukemia. Cole A, et al. Cancer Cell, 2015 Jun 8. PMID 26058080, Free PMC Article

See all (37) 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
  
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_2023_10

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

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