U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    MTRF1L mitochondrial translation release factor 1 like [ Homo sapiens (human) ]

    Gene ID: 54516, updated on 3-Apr-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    MTRF1Lprovided by HGNC
    Official Full Name
    mitochondrial translation release factor 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:21051
    See related
    Ensembl:ENSG00000112031 MIM:613542; AllianceGenome:HGNC:21051
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MRF1L; HMRF1L; mtRF1a
    Summary
    The protein encoded by this gene plays a role in mitochondrial translation termination, and is thought to be a release factor that is involved in the dissociation of the complete protein from the final tRNA, the ribosome, and the cognate mRNA. This protein acts upon UAA and UAG stop codons, but has no in vitro activity against UGA, which encodes tryptophan in human mitochondrion, or, the mitochondrial non-cognate stop codons, AGA and AGG. This protein shares sequence similarity to bacterial release factors. Pseudogenes of this gene are found on chromosomes 4, 8, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
    Expression
    Ubiquitous expression in thyroid (RPKM 3.9), brain (RPKM 3.7) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    6q25.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (152987362..153002709, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (154188665..154204007, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (153308497..153323844, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene C11orf98 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17691 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25291 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25292 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25293 Neighboring gene F-box protein 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17694 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:153324001-153325001 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:153336909-153337091 Neighboring gene regulator of G protein signaling 17 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:153432509-153433188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17695 Neighboring gene RNA, 5S ribosomal pseudogene 224

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Bioinformatic, structural, and functional analyses support release factor-like MTRF1 as a protein able to decode nonstandard stop codons beginning with adenine in vertebrate mitochondria. Young DJ, et al. RNA, 2010 Jun. PMID 20421313, Free PMC Article
    2. The human mitochondrial translation release factor HMRF1L is methylated in the GGQ motif by the methyltransferase HMPrmC. Ishizawa T, et al. Biochem Biophys Res Commun, 2008 Aug 15. PMID 18541145
    3. 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
    4. 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
    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 (27) 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. The methylation of HMRF1L by HMPrmC in human mitochondria is involved in the control of the translation termination process.
      Title: The human mitochondrial translation release factor HMRF1L is methylated in the GGQ motif by the methyltransferase HMPrmC.
    3. Study identified a human mitochondrial release factor candidate, HMRF1L, and demonstrated that HMRF1L is indeed a mitochondrial protein that functions specifically as an RF for the decoding of mitochondrial UAA and UAG termination codons in vitro.
      Title: HMRF1L is a human mitochondrial translation release factor involved in the decoding of the termination codons UAA and UAG.
    4. mtRF1a is a mitochondrial translation release factor that is capable in vitro and in vivo of terminating translation at UAA/UAG codons.
      Title: mtRF1a is a human mitochondrial translation release factor decoding the major termination codons UAA and UAG.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

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

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ10175, MGC102748, DKFZp564G242

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables translation release factor activity IDA
    Inferred from Direct Assay
    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 
    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 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    peptide chain release factor 1-like, mitochondrial
    Names
    mitochondrial release factor 1 like
    mitochondrial translational release factor 1 like

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_001114184.3 → NP_001107656.1  peptide chain release factor 1-like, mitochondrial isoform 3

      See identical proteins and their annotated locations for NP_001107656.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. This variant encodes isoform 3, which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AI479199, AL080276, BC014428, BU853336, BX105260, DA152954
      Consensus CDS
      CCDS47502.1
      UniProtKB/Swiss-Prot
      Q9UGC7
      Related
      ENSP00000356200.5, ENST00000367231.9
      Conserved Domains (1) summary
      cl27687
      Location:63 → 268
      RF-1; RF-1 domain

    2. NM_001301047.3 → NP_001287976.1  peptide chain release factor 1-like, mitochondrial isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame splice site in the 5' coding region, and lacks an alternate exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. This variant encodes isoform 5, which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AI434611, AI479199, AK095240, AL080276, BC105973, BU853336, BX105260, DA152954
      Consensus CDS
      CCDS75540.1
      UniProtKB/Swiss-Prot
      Q9UGC7
      Related
      ENSP00000356199.1, ENST00000367230.5
      Conserved Domains (2) summary
      pfam00472
      Location:195 → 232
      RF-1; RF-1 domain
      pfam03462
      Location:63 → 185
      PCRF; PCRF domain

    3. NM_001301870.2 → NP_001288799.1  peptide chain release factor 1-like, mitochondrial isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AI434611, AI479199, AK095240, AK297671, AL080276, BC011873, BU853336, BX105260, DA152954
      UniProtKB/TrEMBL
      B4DMX1
      Conserved Domains (3) summary
      PRK07342
      Location:53 → 326
      PRK07342; peptide chain release factor 2; Provisional
      pfam00472
      Location:195 → 300
      RF-1; RF-1 domain
      pfam03462
      Location:63 → 185
      PCRF; PCRF domain

    4. NM_001301871.2 → NP_001288800.1  peptide chain release factor 1-like, mitochondrial isoform 4

      See identical proteins and their annotated locations for NP_001288800.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region and uses a downstream start codon compared to variant 1. This variant encodes isoform 4, which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AI434611, AI479199, AK027684, AK095240, AL080276, BC011873, BU853336, BX105260, DA152954
      UniProtKB/TrEMBL
      X6RKB4
      Related
      ENST00000464135.5
      Conserved Domains (2) summary
      pfam00472
      Location:89 → 194
      RF-1; RF-1 domain
      pfam03462
      Location:1 → 79
      PCRF; PCRF domain

    5. NM_001301872.2 → NP_001288801.1  peptide chain release factor 1-like, mitochondrial isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. This variant encodes isoform 6 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AI628793, DA152954
      Conserved Domains (1) summary
      cl00304
      Location:20 → 116
      TP_methylase; S-AdoMet dependent tetrapyrrole methylases

    6. NM_019041.7 → NP_061914.3  peptide chain release factor 1-like, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_061914.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AI434611, AI479199, AK095240, AL080276, BC011873, BU853336, BX105260, DA152954
      Consensus CDS
      CCDS5243.1
      UniProtKB/Swiss-Prot
      B3KTA0, Q3KR06, Q5TF44, Q5TF50, Q96CC5, Q96EX4, Q96K40, Q9UGC7
      UniProtKB/TrEMBL
      B4DMX1
      Related
      ENSP00000356202.5, ENST00000367233.10
      Conserved Domains (3) summary
      COG1186
      Location:130 → 353
      PrfB; Protein chain release factor B [Translation, ribosomal structure and biogenesis]
      pfam00472
      Location:231 → 336
      RF-1; RF-1 domain
      pfam03462
      Location:63 → 221
      PCRF; PCRF domain

    RNA

    1. NR_126056.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) uses an alternate splice site in an internal exon and lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI434611, AI479199, AK095240, AL080276, BC011873, BU853336, BX105260, BX376520, DA152954
      Related
      ENST00000485512.5

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      152987362..153002709 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418907.1 → XP_047274863.1  peptide chain release factor 1-like, mitochondrial isoform X2

    2. XM_047418906.1 → XP_047274862.1  peptide chain release factor 1-like, mitochondrial isoform X2

    3. XM_047418905.1 → XP_047274861.1  peptide chain release factor 1-like, mitochondrial isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      154188665..154204007 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355684.1 → XP_054211659.1  peptide chain release factor 1-like, mitochondrial isoform X2

    2. XM_054355683.1 → XP_054211658.1  peptide chain release factor 1-like, mitochondrial isoform X2

    3. XM_054355682.1 → XP_054211657.1  peptide chain release factor 1-like, mitochondrial isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UGC7.1 GenPept UniProtKB/Swiss-Prot:Q9UGC7

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous