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

Gene ID: 9617, updated on 3-Apr-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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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

  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

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

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

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

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

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

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

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

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

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

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

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

  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

  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
    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

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

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

  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

  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

    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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

  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

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

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