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

Gene ID: 9617, updated on 6-Nov-2022

Summary

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

See MTRF1 in Genome Data Viewer
Location:
13q14.11
Exon count:
20
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (41216369..41312038, complement)
110 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 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

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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_001354073.1NP_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
    Q8IUQ6
    UniProtKB/TrEMBL
    A0A024RDT1
    Conserved Domains (1) summary
    cl40670
    Location:79436
    PCRF; PCRF domain
  2. NM_001354074.1NP_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
    Q8IUQ6
    UniProtKB/TrEMBL
    A0A024RDT1
    Conserved Domains (1) summary
    cl40670
    Location:79436
    PCRF; PCRF domain
  3. NM_001354076.1NP_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
    Q8IUQ6
    UniProtKB/TrEMBL
    A0A024RDT1
    Conserved Domains (1) summary
    cl40670
    Location:79436
    PCRF; PCRF domain
  4. NM_004294.4NP_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, Q8IUQ6
    UniProtKB/TrEMBL
    A0A024RDT1
    Related
    ENSP00000368793.3, ENST00000379480.9
    Conserved Domains (1) summary
    cl40670
    Location:79436
    PCRF; PCRF domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047430785.1XP_047286741.1  peptide chain release factor 1, mitochondrial isoform X1

  2. XM_011535317.3XP_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:92449
    PCRF; PCRF domain
  3. XM_011535315.3XP_011533617.1  peptide chain release factor 1, mitochondrial isoform X1

    Conserved Domains (3) summary
    PRK00591
    Location:131488
    prfA; peptide chain release factor 1; Validated
    pfam00472
    Location:344449
    RF-1; RF-1 domain
    pfam03462
    Location:151334
    PCRF; PCRF domain
  4. XM_024449440.2XP_024305208.1  peptide chain release factor 1, mitochondrial isoform X5

    UniProtKB/Swiss-Prot
    Q8IUQ6
    UniProtKB/TrEMBL
    A0A024RDT1
    Conserved Domains (1) summary
    cl40670
    Location:79436
    PCRF; PCRF domain
  5. XM_024449442.2XP_024305210.1  peptide chain release factor 1, mitochondrial isoform X5

    UniProtKB/Swiss-Prot
    Q8IUQ6
    UniProtKB/TrEMBL
    A0A024RDT1
    Conserved Domains (1) summary
    cl40670
    Location:79436
    PCRF; PCRF domain
  6. XM_047430794.1XP_047286750.1  peptide chain release factor 1, mitochondrial isoform X5

    UniProtKB/Swiss-Prot
    Q8IUQ6
    UniProtKB/TrEMBL
    A0A024RDT1
  7. XM_047430791.1XP_047286747.1  peptide chain release factor 1, mitochondrial isoform X5

    UniProtKB/Swiss-Prot
    Q8IUQ6
    UniProtKB/TrEMBL
    A0A024RDT1
  8. XM_047430787.1XP_047286743.1  peptide chain release factor 1, mitochondrial isoform X3

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

    UniProtKB/Swiss-Prot
    Q8IUQ6
    UniProtKB/TrEMBL
    A0A024RDT1
  10. XM_047430796.1XP_047286752.1  peptide chain release factor 1, mitochondrial isoform X5

    UniProtKB/Swiss-Prot
    Q8IUQ6
    UniProtKB/TrEMBL
    A0A024RDT1
  11. XM_047430789.1XP_047286745.1  peptide chain release factor 1, mitochondrial isoform X5

    UniProtKB/Swiss-Prot
    Q8IUQ6
    UniProtKB/TrEMBL
    A0A024RDT1
  12. XM_047430798.1XP_047286754.1  peptide chain release factor 1, mitochondrial isoform X5

    UniProtKB/Swiss-Prot
    Q8IUQ6
    UniProtKB/TrEMBL
    A0A024RDT1
  13. XM_024449441.2XP_024305209.1  peptide chain release factor 1, mitochondrial isoform X5

    UniProtKB/Swiss-Prot
    Q8IUQ6
    UniProtKB/TrEMBL
    A0A024RDT1
    Conserved Domains (1) summary
    cl40670
    Location:79436
    PCRF; PCRF domain
  14. XM_047430795.1XP_047286751.1  peptide chain release factor 1, mitochondrial isoform X5

    UniProtKB/Swiss-Prot
    Q8IUQ6
    UniProtKB/TrEMBL
    A0A024RDT1
  15. XM_017020866.3XP_016876355.1  peptide chain release factor 1, mitochondrial isoform X5

    UniProtKB/Swiss-Prot
    O75570, Q8IUQ6
    UniProtKB/TrEMBL
    A0A024RDT1
    Conserved Domains (1) summary
    cl40670
    Location:79436
    PCRF; PCRF domain
  16. XM_047430790.1XP_047286746.1  peptide chain release factor 1, mitochondrial isoform X5

    UniProtKB/Swiss-Prot
    Q8IUQ6
    UniProtKB/TrEMBL
    A0A024RDT1
    Related
    ENSP00000368790.1, ENST00000379477.5
  17. XM_047430793.1XP_047286749.1  peptide chain release factor 1, mitochondrial isoform X5

    UniProtKB/Swiss-Prot
    Q8IUQ6
    UniProtKB/TrEMBL
    A0A024RDT1
  18. XM_047430792.1XP_047286748.1  peptide chain release factor 1, mitochondrial isoform X5

    UniProtKB/Swiss-Prot
    Q8IUQ6
    UniProtKB/TrEMBL
    A0A024RDT1
  19. XM_017020861.3XP_016876350.1  peptide chain release factor 1, mitochondrial isoform X4

  20. XM_047430788.1XP_047286744.1  peptide chain release factor 1, mitochondrial isoform X4

  21. XM_017020859.3XP_016876348.1  peptide chain release factor 1, mitochondrial isoform X2

  22. XM_011535326.4XP_011533628.1  peptide chain release factor 1, mitochondrial isoform X6

    Conserved Domains (2) summary
    pfam00472
    Location:344382
    RF-1; RF-1 domain
    pfam03462
    Location:151334
    PCRF; PCRF domain
  23. XM_047430799.1XP_047286755.1  peptide chain release factor 1, mitochondrial isoform X7

  24. XM_047430801.1XP_047286757.1  peptide chain release factor 1, mitochondrial isoform X9

  25. XM_047430800.1XP_047286756.1  peptide chain release factor 1, mitochondrial isoform X8

  26. XM_047430802.1XP_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)