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

Gene ID: 9617, updated on 25-Jan-2022

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
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Genomic context

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See MTRF1 in Genome Data Viewer
Location:
13q14.11
Exon count:
21
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (41216369..41312038, complement)
105.20201022 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 uncharacterized LOC101929140 Neighboring gene mortality factor 4 like 1 pseudogene 4 Neighboring gene kelch repeat and BTB domain containing 7 Neighboring gene uncharacterized LOC105370173 Neighboring gene Rac family small GTPase 1 pseudogene 3 Neighboring gene N-alpha-acetyltransferase 16, NatA auxiliary subunit 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. 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
  2. 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
  3. 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
  4. 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
  5. Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. Antonicka H, et al. Am J Hum Genet, 2010 Jul 9. PMID 20598281, Free PMC Article

See all (21) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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. 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 IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in mitochondrial translational termination IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in regulation of 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
 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
    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
    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
    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
    O75570
    UniProtKB/TrEMBL
    A0A024RDT1
    Related
    ENSP00000368793.3, ENST00000379480.9
    Conserved Domains (1) summary
    cl40670
    Location:79 → 436
    PCRF; PCRF domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017020856.1 → XP_016876345.1  peptide chain release factor 1, mitochondrial isoform X1

    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

  2. XM_017020860.1 → XP_016876349.1  peptide chain release factor 1, mitochondrial isoform X3

    Conserved Domains (1) summary
    cl40670
    Location:92 → 449
    PCRF; PCRF domain

  3. XM_017020857.1 → XP_016876346.1  peptide chain release factor 1, mitochondrial isoform X1

    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_011535321.2 → XP_011533623.1  peptide chain release factor 1, mitochondrial isoform X5

    See identical proteins and their annotated locations for XP_011533623.1

    UniProtKB/Swiss-Prot
    O75570
    UniProtKB/TrEMBL
    A0A024RDT1
    Conserved Domains (1) summary
    cl40670
    Location:79 → 436
    PCRF; PCRF domain

  5. XM_017020875.1 → XP_016876364.1  peptide chain release factor 1, mitochondrial isoform X5

    UniProtKB/Swiss-Prot
    O75570
    UniProtKB/TrEMBL
    A0A024RDT1
    Conserved Domains (1) summary
    cl40670
    Location:79 → 436
    PCRF; PCRF domain

  6. XM_024449443.1 → XP_024305211.1  peptide chain release factor 1, mitochondrial isoform X5

    Conserved Domains (1) summary
    cl40670
    Location:79 → 436
    PCRF; PCRF domain

  7. XM_017020858.1 → XP_016876347.1  peptide chain release factor 1, mitochondrial isoform X1

    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

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

    See identical proteins and their annotated locations for XP_011533619.1

    Conserved Domains (1) summary
    cl40670
    Location:92 → 449
    PCRF; PCRF domain

  9. XM_011535315.2 → XP_011533617.1  peptide chain release factor 1, mitochondrial isoform X1

    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

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

    Conserved Domains (1) summary
    cl40670
    Location:79 → 436
    PCRF; PCRF domain

  11. XM_017020869.2 → XP_016876358.1  peptide chain release factor 1, mitochondrial isoform X5

    UniProtKB/Swiss-Prot
    O75570
    UniProtKB/TrEMBL
    A0A024RDT1
    Conserved Domains (1) summary
    cl40670
    Location:79 → 436
    PCRF; PCRF domain

  12. XM_006719900.2 → XP_006719963.1  peptide chain release factor 1, mitochondrial isoform X5

    See identical proteins and their annotated locations for XP_006719963.1

    UniProtKB/Swiss-Prot
    O75570
    UniProtKB/TrEMBL
    A0A024RDT1
    Conserved Domains (1) summary
    cl40670
    Location:79 → 436
    PCRF; PCRF domain

  13. XM_017020866.2 → XP_016876355.1  peptide chain release factor 1, mitochondrial isoform X5

    UniProtKB/Swiss-Prot
    O75570
    UniProtKB/TrEMBL
    A0A024RDT1
    Conserved Domains (1) summary
    cl40670
    Location:79 → 436
    PCRF; PCRF domain

  14. XM_017020865.2 → XP_016876354.1  peptide chain release factor 1, mitochondrial isoform X5

    UniProtKB/Swiss-Prot
    O75570
    UniProtKB/TrEMBL
    A0A024RDT1
    Conserved Domains (1) summary
    cl40670
    Location:79 → 436
    PCRF; PCRF domain

  15. XM_017020874.1 → XP_016876363.1  peptide chain release factor 1, mitochondrial isoform X5

    UniProtKB/Swiss-Prot
    O75570
    UniProtKB/TrEMBL
    A0A024RDT1
    Conserved Domains (1) summary
    cl40670
    Location:79 → 436
    PCRF; PCRF domain

  16. XM_011535323.2 → XP_011533625.1  peptide chain release factor 1, mitochondrial isoform X5

    See identical proteins and their annotated locations for XP_011533625.1

    UniProtKB/Swiss-Prot
    O75570
    UniProtKB/TrEMBL
    A0A024RDT1
    Conserved Domains (1) summary
    cl40670
    Location:79 → 436
    PCRF; PCRF domain

  17. XM_017020877.1 → XP_016876366.1  peptide chain release factor 1, mitochondrial isoform X10

  18. XM_011535318.3 → XP_011533620.1  peptide chain release factor 1, mitochondrial isoform X5

    See identical proteins and their annotated locations for XP_011533620.1

    UniProtKB/Swiss-Prot
    O75570
    UniProtKB/TrEMBL
    A0A024RDT1
    Conserved Domains (1) summary
    cl40670
    Location:79 → 436
    PCRF; PCRF domain

  19. XM_011535320.2 → XP_011533622.1  peptide chain release factor 1, mitochondrial isoform X5

    See identical proteins and their annotated locations for XP_011533622.1

    UniProtKB/Swiss-Prot
    O75570
    UniProtKB/TrEMBL
    A0A024RDT1
    Related
    ENSP00000368790.1, ENST00000379477.5
    Conserved Domains (1) summary
    cl40670
    Location:79 → 436
    PCRF; PCRF domain

  20. XM_011535325.2 → XP_011533627.1  peptide chain release factor 1, mitochondrial isoform X5

    See identical proteins and their annotated locations for XP_011533627.1

    UniProtKB/Swiss-Prot
    O75570
    UniProtKB/TrEMBL
    A0A024RDT1
    Conserved Domains (1) summary
    cl40670
    Location:79 → 436
    PCRF; PCRF domain

  21. XM_017020868.1 → XP_016876357.1  peptide chain release factor 1, mitochondrial isoform X5

    UniProtKB/Swiss-Prot
    O75570
    UniProtKB/TrEMBL
    A0A024RDT1
    Conserved Domains (1) summary
    cl40670
    Location:79 → 436
    PCRF; PCRF domain

  22. XM_006719898.2 → XP_006719961.1  peptide chain release factor 1, mitochondrial isoform X5

    See identical proteins and their annotated locations for XP_006719961.1

    UniProtKB/Swiss-Prot
    O75570
    UniProtKB/TrEMBL
    A0A024RDT1
    Conserved Domains (1) summary
    cl40670
    Location:79 → 436
    PCRF; PCRF domain

  23. XM_017020867.1 → XP_016876356.1  peptide chain release factor 1, mitochondrial isoform X5

    UniProtKB/Swiss-Prot
    O75570
    UniProtKB/TrEMBL
    A0A024RDT1
    Conserved Domains (1) summary
    cl40670
    Location:79 → 436
    PCRF; PCRF domain

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

    Conserved Domains (1) summary
    cl40670
    Location:79 → 436
    PCRF; PCRF domain

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

    Conserved Domains (1) summary
    cl40670
    Location:79 → 436
    PCRF; PCRF domain

  26. XM_017020861.2 → XP_016876350.1  peptide chain release factor 1, mitochondrial isoform X4

  27. XM_017020871.1 → XP_016876360.1  peptide chain release factor 1, mitochondrial isoform X6

  28. XM_017020859.2 → XP_016876348.1  peptide chain release factor 1, mitochondrial isoform X2

  29. XM_017020870.2 → XP_016876359.1  peptide chain release factor 1, mitochondrial isoform X6

  30. XM_024449444.1 → XP_024305212.1  peptide chain release factor 1, mitochondrial isoform X12

    Related
    ENSP00000399279.1, ENST00000452359.5
    Conserved Domains (1) summary
    cl23943
    Location:82 → 234
    PCRF; PCRF domain

  31. XM_017020878.2 → XP_016876367.1  peptide chain release factor 1, mitochondrial isoform X11

  32. XM_011535326.3 → XP_011533628.1  peptide chain release factor 1, mitochondrial isoform X8

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

  33. XM_017020872.1 → XP_016876361.1  peptide chain release factor 1, mitochondrial isoform X7

  34. XM_017020879.2 → XP_016876368.1  peptide chain release factor 1, mitochondrial isoform X12

    Conserved Domains (1) summary
    cl23943
    Location:82 → 234
    PCRF; PCRF domain

  35. XM_011535327.2 → XP_011533629.1  peptide chain release factor 1, mitochondrial isoform X9

    Conserved Domains (1) summary
    pfam03462
    Location:151 → 286
    PCRF; PCRF domain

RNA

  1. XR_001749743.1 RNA Sequence

  2. XR_001749742.2 RNA Sequence

  3. XR_002957484.1 RNA Sequence

  4. XR_001749744.2 RNA Sequence

  5. XR_001749741.1 RNA Sequence

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

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