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

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

Summary

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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
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Genomic context

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See MTRF1L in Genome Data Viewer
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

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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. 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

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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

EBI GWAS Catalog

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

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

  • 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

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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)

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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_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

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