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

Gene ID: 54516, updated on 5-Aug-2018

Summary

Official Symbol
MTRF1Lprovided by HGNC
Official Full Name
mitochondrial translational release factor 1 likeprovided by HGNC
Primary source
HGNC:HGNC:21051
See related
Ensembl:ENSG00000112031 MIM:613542; Vega:OTTHUMG00000015857
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

Genomic context

See MTRF1L in Genome Data Viewer
Location:
6q25.2
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (152987366..153003439, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (153308400..153323925, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized protein C11orf98 homolog pseudogene Neighboring gene F-box protein 5 Neighboring gene regulator of G protein signaling 17 Neighboring gene RNA, 5S ribosomal pseudogene 224

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Mitochondrial translation, organism-specific biosystem (from REACTOME)
    Mitochondrial translation, organism-specific biosystemOf the roughly 1000 human mitochondrial proteins only 13 proteins, all of them hydrophobic inner membrane proteins that are components of the oxidative phosphorylation apparatus, are encoded in the m...
  • Mitochondrial translation termination, organism-specific biosystem (from REACTOME)
    Mitochondrial translation termination, organism-specific biosystemTranslation is terminated when MTRF1L:GTP (MTRF1a:GTP) recognizes a UAA or UAG termination codon in the mRNA at the A site of the ribosome (Soleimanpour-Lichaei et al. 2007, reviewed in Richter et al...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10175, MGC102748, DKFZp564G242

Gene Ontology Provided by GOA

Function Evidence Code Pubs
translation release factor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
mitochondrial translational termination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial translational termination TAS
Traceable Author Statement
more info
 
translational termination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
peptide chain release factor 1-like, mitochondrial
Names
mitochondrial release factor 1 like

NCBI Reference Sequences (RefSeq)

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_001114184.2NP_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, BC014428, BU853336, BX105260, DA152954
    Consensus CDS
    CCDS47502.1
    UniProtKB/Swiss-Prot
    Q9UGC7
    Related
    ENSP00000356200.5, OTTHUMP00000017456, ENST00000367231.9, OTTHUMT00000042766
    Conserved Domains (1) summary
    cl27687
    Location:63268
    RF-1; RF-1 domain
  2. NM_001301047.2NP_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, BC105973, BU853336, BX105260, DA152954
    Consensus CDS
    CCDS75540.1
    UniProtKB/Swiss-Prot
    Q9UGC7
    Related
    ENSP00000356199.1, OTTHUMP00000017457, ENST00000367230.5, OTTHUMT00000042767
    Conserved Domains (2) summary
    pfam00472
    Location:195232
    RF-1; RF-1 domain
    pfam03462
    Location:63185
    PCRF; PCRF domain
  3. NM_001301870.1NP_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, BC011873, BU853336, BX105260, DA152954
    UniProtKB/Swiss-Prot
    Q9UGC7
    UniProtKB/TrEMBL
    B4DMX1
    Conserved Domains (3) summary
    PRK07342
    Location:53326
    PRK07342; peptide chain release factor 2; Provisional
    pfam00472
    Location:195300
    RF-1; RF-1 domain
    pfam03462
    Location:63185
    PCRF; PCRF domain
  4. NM_001301871.1NP_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, BC011873, BU853336, BX105260, DA152954
    UniProtKB/Swiss-Prot
    Q9UGC7
    Conserved Domains (2) summary
    pfam00472
    Location:89194
    RF-1; RF-1 domain
    pfam03462
    Location:179
    PCRF; PCRF domain
  5. NM_001301872.1NP_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:20116
    TP_methylase; S-AdoMet dependent tetrapyrrole methylases
  6. NM_019041.6NP_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, BC011873, BU853336, BX105260, DA152954
    Consensus CDS
    CCDS5243.1
    UniProtKB/Swiss-Prot
    Q9UGC7
    Related
    ENSP00000356202.5, OTTHUMP00000017455, ENST00000367233.9, OTTHUMT00000042764
    Conserved Domains (3) summary
    COG1186
    Location:130353
    PrfB; Protein chain release factor B [Translation, ribosomal structure and biogenesis]
    pfam00472
    Location:231336
    RF-1; RF-1 domain
    pfam03462
    Location:63221
    PCRF; PCRF domain

RNA

  1. NR_126056.1 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, BC011873, BU853336, BX105260, BX376520, DA152954
    Related
    ENST00000485512.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    152987366..153003439 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001743474.2 RNA Sequence

  2. XR_245540.4 RNA Sequence

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