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MTRF1 Gene

protein-coding   GIFtS: 53

GC13M040689
mitochondrial translational release factor 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
MGC47721 1, 2
MRF-1 3
MRF1 2
MTTRF1 1, 2
OTTHUMP00000018315 2
OTTHUMP00000018316 2
RF1 1, 2
Descriptions
mitochondrial translational release factor 1 2
mitochontrial peptide chain release factor 1 2
External Ids
HGNC: 74691
Entrez Gene: 96172
UniProtKB: O755703
Ensembl: ENSG000001206627
Search outside databases for aliases for MTRF1 gene

Previous GC identifers: GC13M039777 GC13M035777 GC13M040727 GC13M039588

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for MTRF1:
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]

UniProtKB/Swiss-Prot: RF1M_HUMAN, O75570
Function: Mitochondrial peptide chain release factor that directs the termination of translation in
response to the peptide chain non-cognate termination stop codons AGG and AGA

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q14.1-q14.3   Ensembl cytogenetic band:  13q14.11   HGNC cytogenetic band: 13q14.1-q14.3

MTRF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M040689:     (about GC identifiers)

Start:
40,688,516 bp from pter
End:
40,735,713 bp from pter
Size:
47,198 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000013.9  NT_024524.13  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: RF1M_HUMAN, O75570 (See protein sequence)
Recommended Name: Peptide chain release factor 1, mitochondrial precursor  
Size: 445 amino acids; 52306 Da
Subcellular location: Mitochondrion
Secondary accessions: Q5T6Y5 Q8IUQ6

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_004285.2  

    ENSEMBL proteins: 
    ENSP00000368790 ENSP00000239852 ENSP00000368793 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (MTRF1)
    Human Recombinant Proteins from Abnova (MTRF1)
                  OriGene Purified Recombinant Human Protein: MTRF1 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm IEA--
    GO:0005739 mitochondrion TAS9838146
    About this table

    Antibodies for MTRF1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for MTRF1
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (MTRF1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (MTRF1)
    Novus Biologicals Antibodies for MTRF1

    Assays for MTRF1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    2 InterPro domains/families:
     IPR000352 Pep_rel_factor_I
     IPR005139 PCRF


       GeneDecks  MTRF1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry O75570

    ProtoNet protein and cluster: O75570

    1 Blocks protein family: IPB000352 Class I peptide chain release factor domain

    UniProtKB/Swiss-Prot: RF1M_HUMAN, O75570
    Similarity: Belongs to the prokaryotic/mitochondrial release factor family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (MTRF1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (MTRF1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): BC027731

                  Applied Biosystems Silencer® siRNAs for MTRF1

                  Sigma-Aldrich siRNA for MTRF1  
                         Sigma-Aldrich shRNA for MTRF1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for MTRF1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_004294
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_004294
                                     untagged cDNA clones in CMV expression vector (see all 2): BC027731 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_004294

    UniProtKB/Swiss-Prot: RF1M_HUMAN, O75570
    Function: Mitochondrial peptide chain release factor that directs the termination of translation in
    response to the peptide chain non-cognate termination stop codons AGG and AGA

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016149 translation release factor activity, codon specific IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section



    2 Interacting proteins for MTRF1 (ENSP000003687933) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HEMK1ENSP000002328543STRING (score=.767)
    TERF1ENSP000002766033STRING (score=.71)
    About this table

    1 Gene Ontology (GO) biological process term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006449 regulation of translational termination TAS9838146
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for MTRF1

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (MTRF1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (MTRF1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): BC027731

                  Sigma-Aldrich siRNA for MTRF1  
                         Sigma-Aldrich shRNA for MTRF1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_004294  

    REFSEQ mRNAs for MTRF1 gene: 

    NM_004294.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_004294  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_004294
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_004294
                                     untagged cDNA clones in CMV expression vector (see all 2): BC027731 

    Additional cDNA sequence: 

    AF072934.1 AK055086.1 AK294343.1 BC027731.2 BC038427.1 BC042196.1 BC065496.1 

    15 DOTS entries:

    DT.410020  DT.97818650  DT.95186214  DT.91989067  DT.100754099  DT.120794077  DT.120794044  DT.120794082 
    DT.91865335  DT.120794066  DT.40287987  DT.95309200  DT.95368323  DT.99928783  DT.120794065 

    24/73 AceView cDNA sequences (see all 73 ):

    BM280337 NM_004294 AA805424 AI075047 CK821811 AI499198 AA573449 BC042196 
    AI051946 CF528940 AI884353 BC027731 AW572070 AI802069 AA496969 AL699224 
    AF072934 BC038427 AA490567 AI914978 CA489782 CK821812 AK055086 AW612002 

    highest scoring ESTs for MTRF1:

    AA573449 AF072934 AI656905 AU280130 BC027731 BC042196 BC065496 BI752303 BI769930 AA406632 

    Unigene Cluster for MTRF1:

    Mitochondrial translational release factor 1
    Hs.382176  [show with all ESTs]
    Unigene Representative Sequence: BC038427


    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for MTRF1 (see all 11 )

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^
    SP1:                          -           -           -     -     -                                   -                       -     -                           
    SP2:                    -     -     -     -     -     -     -     -                                                           -     -                           
    SP3:                    -     -     -     -     -     -     -     -                                   -                       -     -                           
    SP4:                    -           -     -     -     -     -     -                                   -                                                         
    SP5:                                            -     -     -     -                                                                                             

    ExUns: 14a · 14b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            

    About this scheme

    ECgene alternative splicing isoforms for MTRF1

    3 Ensembl transcripts including schematic representations:
    ENST00000379477  ENST00000239852  ENST00000379480  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    MTRF1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for MTRF1

    1 / 2 / 3

    8 probe-sets matching MTRF1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    47081_at2, 3 U95-B 1 1.00 1.00 0.81 1.07 AI656905 0.80 1.00 0.91 1

    92053_at2, 3 U95-D 1 1.00 1.00 0.95 0.93 AA573449 0.80 1.00 0.91 1

    244763_at2, 3 U133-B 1 1.00 1.00 -- -- AA573449 0.80 1.00 0.91 1

    219822_at2, 3 U133-A 1 1.00 1.00 -- -- NM_004294 0.60 1.00 0.82 1

    242996_at2, 3 U133-B 1 1.00 1.00 -- -- AI341686 0.20 1.00 0.72 1

    244763_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    219822_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    242996_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  MTRF1 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TTAAAGTTAA

    SOURCE GeneReport for Unigene cluster: Hs.382176
    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for MTRF1 gene from 5/9 species (see all 9 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    MTRF11   -- mitochondrial translational release factor 1 89.67(n)
    87.33(a)
    485465  XM_542584.2  XP_542584.2 
    chimpanzee
    (Pan troglodytes)
    MTRF11   -- mitochondrial translational release factor 1 99.93(n)
    100(a)
    452558  XM_001150158.1  XP_001150158.1 
    cow
    (Bos taurus)
    MTRF11   -- mitochondrial translational release factor 1 88.49(n)
    88.04(a)
    504754  NM_001035013.1  NP_001030185.1 
    mouse
    (Mus musculus)
    Mtrf11, 5 145
    mitochondrial translational release factor 11, 5 84.42(n)1
    81.8(a)1
    2112531  NM_145960.31  NP_666072.21 
     AK0439815  AK0518345  (see all 7)
    chicken
    (Gallus gallus)
    MTRF11   -- mitochondrial translational release factor 1 68.82(n)
    66.74(a)
    418830  XM_417026.2  XP_417026.1 
    About this table        Species with no ortholog for MTRF1

    ENSEMBL Gene Tree for MTRF1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for MTRF1 gene
    MTRF1L2  ENSG000001800152  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/346 NCBI SNPs in MTRF1 are shown (see all 346 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 77)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 13 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs95327581,2
    A,C,F,H40733039(+) GACGAT/CTCATC 1 S/N mis1 ese315Minor allele frequency- C:0.08EU EA WA NA 1392
    rs93158241,2
    A,C,F,H40736969(+) CTAAGC/TTCTGA 1 -- ng314Minor allele frequency- T:0.07EU EA WA 412
    rs95667251,2
    C,F,H40706044(+) GACAAG/CTCTGA 1 V/L mis1 ese38Minor allele frequency- C:0.00EU EA WA 826
    rs37640551,2
    C,F,H40736203(-) CTTTAG/CGGGCT 1 -- ng318Minor allele frequency- C:0.39EA EU WA NA 2018
    rs175328681,2
    C,F,H40736433(+) TTGCAC/AATGGG 1 -- ng31 tfbs311Minor allele frequency- A:0.02NA EU EA WA 982
    rs37640541,2
    C,F,H40736503(-) TAACTT/GGAGTT 1 -- ng318Minor allele frequency- G:0.37EU EA WA 836
    rs93158121,2
    C,F,H40695397(+) CTTAAT/CATCAC 1 V/I mis19Minor allele frequency- C:0.03EU EA WA NA 916
    rs95905801,2
    F,H40736200(+) AGAAGC/ACCGTA 1 -- ng313Minor allele frequency- A:0.02EU EA 300
    --
    rs95327611,2
    A,C40737552(+) aactcC/Tgtctc 1 -- ng310--------
    --
    rs95327621,2
    A,C40737682(+) atgtgA/Tctgta 1 -- ng310--------
    About this table

    HapMap Linkage Disequilibrium images for MTRF1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 604601

    1 Novoseek disease relationship for MTRF1 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    sterility male 84.12 3 14968308 (1), 17622268 (1), 12782297 (1)
    About this table

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/15 PubMed articles for MTRF1 gene (see all 15 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 9617 HGNC: 7469 AceView: MTRF1 Ensembl:ENSG00000120662 euGenes: HUgn9617
    ECgene: MTRF1 H-InvDB: MTRF1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for MTRF1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
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     Purified proteins from HEK293T cells
     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     Search Tocris compounds for MTRF1




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for MTRF1

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