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    MTRF1 mitochondrial translation release factor 1 [ Homo sapiens (human) ]

    Gene ID: 9617, updated on 17-Jun-2024

    Summary

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    Official Symbol
    MTRF1provided by HGNC
    Official Full Name
    mitochondrial translation release factor 1provided by HGNC
    Primary source
    HGNC:HGNC:7469
    See related
    Ensembl:ENSG00000120662 MIM:604601; AllianceGenome:HGNC:7469
    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
    RF1; MRF1; MTTRF1
    Summary
    The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochondria protein synthesis, a recent publication found no mitochondrial translation release functionality. Multiple alternatively spliced transcript variants have been suggested by mRNA and EST data; however, their full-length natures are not clear. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 2.7), lymph node (RPKM 2.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTRF1 in Genome Data Viewer
    Location:
    13q14.11
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (41216369..41312038, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (40435512..40531181, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (41790505..41886174, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene KBTBD6 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:41767447-41768154 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:41768155-41768861 Neighboring gene mortality factor 4 like 1 pseudogene 4 Neighboring gene kelch repeat and BTB domain containing 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5289 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:41837130-41837630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5290 Neighboring gene uncharacterized LOC105370173 Neighboring gene Rac family small GTPase 1 pseudogene 3 Neighboring gene N-alpha-acetyltransferase 16, NatA auxiliary subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:41916345-41916845 Neighboring gene RNA, U6 small nuclear 57, pseudogene Neighboring gene tubulin beta pseudogene 2

    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. Molecular basis of translation termination at noncanonical stop codons in human mitochondria. Saurer M, et al. Science, 2023 May 5. PMID 37141370
    2. Human mitochondria require mtRF1 for translation termination at non-canonical stop codons. Krüger A, et al. Nat Commun, 2023 Jan 3. PMID 36596788, Free PMC Article
    3. Human mtRF1 terminates COX1 translation and its ablation induces mitochondrial ribosome-associated quality control. Nadler F, et al. Nat Commun, 2022 Oct 27. PMID 36302763, Free PMC Article
    4. HMRF1L is a human mitochondrial translation release factor involved in the decoding of the termination codons UAA and UAG. Nozaki Y, et al. Genes Cells, 2008 May. PMID 18429816
    5. mtRF1a is a human mitochondrial translation release factor decoding the major termination codons UAA and UAG. Soleimanpour-Lichaei HR, et al. Mol Cell, 2007 Sep 7. PMID 17803939, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular basis of translation termination at noncanonical stop codons in human mitochondria.
      Title: Molecular basis of translation termination at noncanonical stop codons in human mitochondria.
    2. Human mitochondria require mtRF1 for translation termination at non-canonical stop codons.
      Title: Human mitochondria require mtRF1 for translation termination at non-canonical stop codons.
    3. Human mtRF1 terminates COX1 translation and its ablation induces mitochondrial ribosome-associated quality control.
      Title: Human mtRF1 terminates COX1 translation and its ablation induces mitochondrial ribosome-associated quality control.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    5. Purified mtRF1 did not induce translation termination in vitro nor did mtRF1 restore mitochondrial translation machinery in mutated S. cerevisiae in vivo. A different mtRF, mtRF1a, was found.
      Title: mtRF1a is a human mitochondrial translation release factor decoding the major termination codons UAA and UAG.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC47721

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables translation release factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables translation release factor activity, codon specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial translational termination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial translational termination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial translational termination TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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
    peptide chain release factor 1, mitochondrial
    Names
    MRF-1
    mitochondrial translational release factor 1
    mitochontrial peptide chain release factor 1
    mtRF-1

    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_001354073.1 → NP_001341002.1  peptide chain release factor 1, mitochondrial

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All four variants encode the same protein.
      Source sequence(s)
      AL354696
      Consensus CDS
      CCDS9378.1
      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2
      Conserved Domains (1) summary
      cl40670
      Location:79 → 436
      PCRF; PCRF domain

    2. NM_001354074.1 → NP_001341003.1  peptide chain release factor 1, mitochondrial

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AL354696
      Consensus CDS
      CCDS9378.1
      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2
      Conserved Domains (1) summary
      cl40670
      Location:79 → 436
      PCRF; PCRF domain

    3. NM_001354076.1 → NP_001341005.1  peptide chain release factor 1, mitochondrial

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AL354696
      Consensus CDS
      CCDS9378.1
      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2
      Conserved Domains (1) summary
      cl40670
      Location:79 → 436
      PCRF; PCRF domain

    4. NM_004294.4 → NP_004285.2  peptide chain release factor 1, mitochondrial

      See identical proteins and their annotated locations for NP_004285.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AL354696
      Consensus CDS
      CCDS9378.1
      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2
      Related
      ENSP00000368793.3, ENST00000379480.9
      Conserved Domains (1) summary
      cl40670
      Location:79 → 436
      PCRF; PCRF domain

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      41216369..41312038 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430785.1 → XP_047286741.1  peptide chain release factor 1, mitochondrial isoform X1

      UniProtKB/TrEMBL
      B3KNV2

    2. XM_011535317.3 → XP_011533619.1  peptide chain release factor 1, mitochondrial isoform X3

      See identical proteins and their annotated locations for XP_011533619.1

      UniProtKB/TrEMBL
      B3KNV2
      Conserved Domains (1) summary
      cl40670
      Location:92 → 449
      PCRF; PCRF domain

    3. XM_011535315.3 → XP_011533617.1  peptide chain release factor 1, mitochondrial isoform X1

      UniProtKB/TrEMBL
      B3KNV2
      Conserved Domains (3) summary
      PRK00591
      Location:131 → 488
      prfA; peptide chain release factor 1; Validated
      pfam00472
      Location:344 → 449
      RF-1; RF-1 domain
      pfam03462
      Location:151 → 334
      PCRF; PCRF domain

    4. XM_024449440.2 → XP_024305208.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2
      Conserved Domains (1) summary
      cl40670
      Location:79 → 436
      PCRF; PCRF domain

    5. XM_024449442.2 → XP_024305210.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2
      Conserved Domains (1) summary
      cl40670
      Location:79 → 436
      PCRF; PCRF domain

    6. XM_047430794.1 → XP_047286750.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2

    7. XM_047430791.1 → XP_047286747.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2

    8. XM_047430787.1 → XP_047286743.1  peptide chain release factor 1, mitochondrial isoform X3

      UniProtKB/TrEMBL
      B3KNV2

    9. XM_047430797.1 → XP_047286753.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2

    10. XM_047430796.1 → XP_047286752.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2

    11. XM_047430789.1 → XP_047286745.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2

    12. XM_047430798.1 → XP_047286754.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2

    13. XM_024449441.2 → XP_024305209.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2
      Conserved Domains (1) summary
      cl40670
      Location:79 → 436
      PCRF; PCRF domain

    14. XM_047430795.1 → XP_047286751.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2

    15. XM_017020866.3 → XP_016876355.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2
      Conserved Domains (1) summary
      cl40670
      Location:79 → 436
      PCRF; PCRF domain

    16. XM_047430790.1 → XP_047286746.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2
      Related
      ENSP00000368790.1, ENST00000379477.5

    17. XM_047430793.1 → XP_047286749.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2

    18. XM_047430792.1 → XP_047286748.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2

    19. XM_017020861.3 → XP_016876350.1  peptide chain release factor 1, mitochondrial isoform X4

      UniProtKB/TrEMBL
      B3KNV2

    20. XM_047430788.1 → XP_047286744.1  peptide chain release factor 1, mitochondrial isoform X4

      UniProtKB/TrEMBL
      B3KNV2

    21. XM_017020859.3 → XP_016876348.1  peptide chain release factor 1, mitochondrial isoform X2

      UniProtKB/TrEMBL
      B3KNV2

    22. XM_011535326.4 → XP_011533628.1  peptide chain release factor 1, mitochondrial isoform X6

      Conserved Domains (2) summary
      pfam00472
      Location:344 → 382
      RF-1; RF-1 domain
      pfam03462
      Location:151 → 334
      PCRF; PCRF domain

    23. XM_047430799.1 → XP_047286755.1  peptide chain release factor 1, mitochondrial isoform X7

    24. XM_047430801.1 → XP_047286757.1  peptide chain release factor 1, mitochondrial isoform X9

    25. XM_047430800.1 → XP_047286756.1  peptide chain release factor 1, mitochondrial isoform X8

    26. XM_047430802.1 → XP_047286758.1  peptide chain release factor 1, mitochondrial isoform X10

      UniProtKB/TrEMBL
      X6RFD4
      Related
      ENSP00000399279.1, ENST00000452359.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      40435512..40531181 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375206.1 → XP_054231181.1  peptide chain release factor 1, mitochondrial isoform X1

      UniProtKB/TrEMBL
      B3KNV2

    2. XM_054375214.1 → XP_054231189.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2

    3. XM_054375210.1 → XP_054231185.1  peptide chain release factor 1, mitochondrial isoform X3

      UniProtKB/TrEMBL
      B3KNV2

    4. XM_054375207.1 → XP_054231182.1  peptide chain release factor 1, mitochondrial isoform X1

      UniProtKB/TrEMBL
      B3KNV2

    5. XM_054375209.1 → XP_054231184.1  peptide chain release factor 1, mitochondrial isoform X3

      UniProtKB/TrEMBL
      B3KNV2

    6. XM_054375205.1 → XP_054231180.1  peptide chain release factor 1, mitochondrial isoform X1

      UniProtKB/TrEMBL
      B3KNV2

    7. XM_054375219.1 → XP_054231194.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2

    8. XM_054375221.1 → XP_054231196.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2

    9. XM_054375215.1 → XP_054231190.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2

    10. XM_054375218.1 → XP_054231193.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2

    11. XM_054375216.1 → XP_054231191.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2

    12. XM_054375213.1 → XP_054231188.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2

    13. XM_054375217.1 → XP_054231192.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2

    14. XM_054375212.1 → XP_054231187.1  peptide chain release factor 1, mitochondrial isoform X4

      UniProtKB/TrEMBL
      B3KNV2

    15. XM_054375211.1 → XP_054231186.1  peptide chain release factor 1, mitochondrial isoform X4

      UniProtKB/TrEMBL
      B3KNV2

    16. XM_054375208.1 → XP_054231183.1  peptide chain release factor 1, mitochondrial isoform X2

      UniProtKB/TrEMBL
      B3KNV2

    17. XM_054375220.1 → XP_054231195.1  peptide chain release factor 1, mitochondrial isoform X6

    18. XM_054375222.1 → XP_054231197.1  peptide chain release factor 1, mitochondrial isoform X7

    19. XM_054375223.1 → XP_054231198.1  peptide chain release factor 1, mitochondrial isoform X8

    20. XM_054375224.1 → XP_054231199.1  peptide chain release factor 1, mitochondrial isoform X10

      UniProtKB/TrEMBL
      X6RFD4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75570.2 GenPept UniProtKB/Swiss-Prot:O75570

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