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

    Gene ID: 9617, updated on 3-Apr-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See MTRF1 in Genome Data Viewer
    Location:
    13q14.11
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (41216369..41312038, complement)
    RS_2023_10 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 KBTBD6 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:41767447-41768154 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:41768155-41768861 Neighboring gene mortality factor 4 like 1 pseudogene 4 Neighboring gene kelch repeat and BTB domain containing 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5289 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:41837130-41837630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5290 Neighboring gene uncharacterized LOC105370173 Neighboring gene Rac family small GTPase 1 pseudogene 3 Neighboring gene N-alpha-acetyltransferase 16, NatA auxiliary subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:41916345-41916845 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 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)

    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_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
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2
      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
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2
      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
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2
      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
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2
      Related
      ENSP00000368793.3, ENST00000379480.9
      Conserved Domains (1) summary
      cl40670
      Location:79436
      PCRF; PCRF domain

    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_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

      UniProtKB/TrEMBL
      B3KNV2
      Conserved Domains (1) summary
      cl40670
      Location:92449
      PCRF; PCRF domain
    3. XM_011535315.3XP_011533617.1  peptide chain release factor 1, mitochondrial isoform X1

      UniProtKB/TrEMBL
      B3KNV2
      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
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2
      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
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2
      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
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
    7. XM_047430791.1XP_047286747.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
    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
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
    10. XM_047430796.1XP_047286752.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
    11. XM_047430789.1XP_047286745.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
    12. XM_047430798.1XP_047286754.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
    13. XM_024449441.2XP_024305209.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2
      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
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
    15. XM_017020866.3XP_016876355.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      UniProtKB/TrEMBL
      B3KNV2
      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
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
      Related
      ENSP00000368790.1, ENST00000379477.5
    17. XM_047430793.1XP_047286749.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
    18. XM_047430792.1XP_047286748.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
    19. XM_017020861.3XP_016876350.1  peptide chain release factor 1, mitochondrial isoform X4

      UniProtKB/TrEMBL
      B3KNV2
    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

      UniProtKB/TrEMBL
      B3KNV2
    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)

    mRNA and Protein(s)

    1. XM_054375206.1XP_054231181.1  peptide chain release factor 1, mitochondrial isoform X1

    2. XM_054375214.1XP_054231189.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
    3. XM_054375210.1XP_054231185.1  peptide chain release factor 1, mitochondrial isoform X3

    4. XM_054375207.1XP_054231182.1  peptide chain release factor 1, mitochondrial isoform X1

    5. XM_054375209.1XP_054231184.1  peptide chain release factor 1, mitochondrial isoform X3

    6. XM_054375205.1XP_054231180.1  peptide chain release factor 1, mitochondrial isoform X1

    7. XM_054375219.1XP_054231194.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
    8. XM_054375221.1XP_054231196.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
    9. XM_054375215.1XP_054231190.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
    10. XM_054375218.1XP_054231193.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
    11. XM_054375216.1XP_054231191.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
    12. XM_054375213.1XP_054231188.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
    13. XM_054375217.1XP_054231192.1  peptide chain release factor 1, mitochondrial isoform X5

      UniProtKB/Swiss-Prot
      B4DG01, O75570, Q5T6Y5, Q8IUQ6
    14. XM_054375212.1XP_054231187.1  peptide chain release factor 1, mitochondrial isoform X4

    15. XM_054375211.1XP_054231186.1  peptide chain release factor 1, mitochondrial isoform X4

    16. XM_054375208.1XP_054231183.1  peptide chain release factor 1, mitochondrial isoform X2

    17. XM_054375220.1XP_054231195.1  peptide chain release factor 1, mitochondrial isoform X6

    18. XM_054375222.1XP_054231197.1  peptide chain release factor 1, mitochondrial isoform X7

    19. XM_054375223.1XP_054231198.1  peptide chain release factor 1, mitochondrial isoform X8

    20. XM_054375224.1XP_054231199.1  peptide chain release factor 1, mitochondrial isoform X10