Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MTRF1 Gene

protein-coding   GIFtS: 51
GCID: GC13M041790

mitochondrial translational release factor 1

 Explore 6 diseases affiliated with
MTRF1 via our new
 Human Malady Compendium 
Biological research products
for MTRF1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Mitochondrial Translational Release Factor 11 2     MRF12
MTTRF11 2     Mitochontrial Peptide Chain Release Factor 12
RF11 2     MtRF-13
MRF-12 3     Peptide Chain Release Factor 1, Mitochondrial2
MGC477211     MtRF-13

External Ids:    HGNC: 74691   Entrez Gene: 96172   Ensembl: ENSG000001206627   OMIM: 6046015   UniProtKB: O755703   

Export aliases for MTRF1 gene to outside databases

Previous GC identifers: GC13M039777 GC13M035777 GC13M040727 GC13M039588 GC13M040689 GC13M022590


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

Entrez Gene 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, Jul 2008)

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

Gene Wiki entry for MTRF1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.1  NT_024524.14  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MTRF1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTRF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MTRF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTRF1


Genomic Location:
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)
MTRF1 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M041790:  view genomic region     (about GC identifiers)

Start:
41,790,516 bp from pter      End:
41,837,742 bp from pter
Size:
47,227 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Explore the universe of human proteins at neXtProt for MTRF1: NX_O75570

Post-translational modifications:

  • Methylation of glutamine in the GGQ triplet is conserved from bacteria to mammals (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75570

  • MTRF1 Protein expression data from MOPED and PaxDb:    About this image 
    MTRF1 Protein Expression
    REFSEQ proteins: NP_004285.2  
    ENSEMBL proteins: 
     ENSP00000368793   ENSP00000368790   ENSP00000399279   ENSP00000400031   ENSP00000239852  

    Human Recombinant Protein Products for MTRF1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: MTRF1
    OriGene Custom Protein Services for MTRF1 
    GenScript Custom Purified and Recombinant Proteins Services for MTRF1
    Novus Biologicals MTRF1 Proteins
    Novus Biologicals MTRF1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MTRF1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IEA--

    MTRF1 for ontologies           About GeneDecksing



    MTRF1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for MTRF1 
    GenScript Custom Superior Antibodies Services for MTRF1
    Novus Biologicals MTRF1 Antibodies
    Abcam antibodies for MTRF1 
    Uscn Antibodies for MTRF1
    Search ThermoFisher Antibodies for MTRF1

    Assay Products for MTRF1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MTRF1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for MTRF1


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

    MTRF1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR014720 dsRNA-bd-like_dom
     IPR000352 Pep_chain_release_fac_I_II
     IPR005139 PCRF

    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 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003747translation release factor activity TAS9838146
    GO:0016149translation release factor activity, codon specific IEA--
         
    MTRF1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Mtrf1):
     hematopoietic system 

    MTRF1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MTRF1 

    miRNA
    Products:
        
    Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MTRF1
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate MTRF1:
    hsa-miR-138-1* hsa-miR-3164 hsa-miR-579 hsa-miR-4311 hsa-miR-130b*
    SwitchGear 3'UTR luciferase reporter plasmidMTRF1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MTRF1 (see all 4)
    OriGene shRNA RFP: MTRF1
    OriGene siRNA: MTRF1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MTRF1
    Sirion Biotech Custom design and validation of potent shRNA sequences against MTRF1 

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MTRF1
    Sirion Biotech Customized adenovirus for overexpression of MTRF1 
    Sirion Biotech Customized adenovirus for potent knockdown of MTRF1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MTRF1 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MTRF1 (see all 2)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: MTRF1 (NM_004294)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTRF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTRF1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MTRF1
    Search LifeMap BioReagents cell lines for MTRF1
    Sirion Biotech Customized stable knockdown cell line services for MTRF1 
    Sirion Biotech Customized inducible knockdown cell line services for MTRF1
    Sirion Biotech Customized stable overexpressing cell line services for MTRF1
    Sirion Biotech Customized inducible overexpressing cell line services for MTRF1

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTRF1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MTRF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/16 Interacting proteins for MTRF1 (O755703 ENSP000003687904) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    PARK7Q994973, ENSP000003402784I2D: score=1 STRING: ENSP00000340278
    RPS20ENSP000000095894STRING: ENSP00000009589
    MRPS16ENSP000003620364STRING: ENSP00000362036
    RPS16ENSP000002514534STRING: ENSP00000251453
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006449regulation of translational termination TAS9838146

    MTRF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MTRF1
    Search CenterWatch for drugs/clinical trials and news about MTRF1 / RF1M 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MTRF1 gene: 
    NM_004294.2  

    Unigene Cluster for MTRF1:

    Mitochondrial translational release factor 1
    Hs.382176  [show with all ESTs]
    Unigene Representative Sequence: BC038427
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379480(uc001uxy.3 uc001uxz.3 uc010tff.2) ENST00000473492
    ENST00000379477(uc001uxx.3) ENST00000486236 ENST00000480434 ENST00000452359
    ENST00000497679 ENST00000492827 ENST00000498245 ENST00000430347(uc001uyc.1)
    ENST00000239852

    miRNA
    Products:
         
    Browse 3'-UTR reporter clones for miRNA target validation
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MTRF1
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate MTRF1:
    hsa-miR-138-1* hsa-miR-3164 hsa-miR-579 hsa-miR-4311 hsa-miR-130b*
    SwitchGear 3'UTR luciferase reporter plasmidMTRF1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MTRF1 (see all 4)
    OriGene shRNA RFP: MTRF1
    OriGene siRNA: MTRF1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MTRF1
    Sirion Biotech Custom design and validation of potent shRNA sequences against MTRF1 
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MTRF1 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MTRF1 (see all 2)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: MTRF1 (NM_004294)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTRF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTRF1 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MTRF1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MTRF1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MTRF1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTRF1

    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.120794044  DT.120794077  DT.120794082 
    DT.120794066  DT.40287987  DT.95309200  DT.95368323  DT.99928783  DT.120794065  DT.91865335 

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

    NM_004294 CF528940 BC042196 AI051946 AW572070 AA573449 AI075047 BM280337 
    AA805424 CK821811 AI884353 BC027731 AI499198 AI802069 AA496969 AA490567 
    AA406632 BF942704 BC065496 AL699224 AW070226 AI914978 AI248927 CK821812 

    GeneLoc Exon Structure

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

    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:            


    ECgene alternative splicing isoforms for MTRF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MTRF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTAAAGTTAA
    MTRF1 Expression
    About this image
    See MTRF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MTRF1

    SOURCE GeneReport for Unigene cluster: Hs.382176
        SABiosciences Custom PCR Arrays for MTRF1

    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MTRF1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MTRF1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MTRF1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTRF1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTRF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for MTRF1 gene from 9/30 species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves MTRF11 mitochondrial translational release factor 1 68.82(n)
    66.74(a)
      418830  XM_417026.3  XP_417026.1 
    lizard
    (Anolis carolinensis)
    Reptilia MTRF16
    --
    64(a)
    1 ↔ 1
    3(70644310-70660240)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.105312 Xenopus laevis transcribed sequence with weak similarity to protein spO75570 (H.sapiens) RF1M_HUMAN Mitochondrial peptide chain release factor 1 precursor (MRF-1) less 76.47(n)    BJ633445.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1131041 zgc:113104 63.39(n)
    67.52(a)
      503530  NM_001012494.1  NP_001012512.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG57053 translational termination translation
    release factor, codon specific less
    37(a)   34A10   --
    worm
    (Caenorhabditis elegans)
    Secernentea W03F8.33 protein releasing factor 34(a)   IV(5187349-5189186)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G470201 Peptide chain release factor 1 48.49(n)
    39.27(a)
      819316  NM_130270.3  NP_182225.3 
    rice
    (Oryza sativa)
    Liliopsida Os05g02773001 hypothetical protein 49.53(n)
    45.17(a)
      4338281  NM_001061615.1  NP_001055080.1 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria prfA6
    peptide chain release factor RF-1
    38(a)
    possible ortholog
    Chromosome(1264235-1265317)


    ENSEMBL Gene Tree for MTRF1 (if available)
    TreeFam Gene Tree for MTRF1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MTRF1 gene
    MTRF1L2  
    1 SIMAP similar gene for MTRF1 using alignment to 3 protein entries:     RF1M_HUMAN (see all proteins):
    MTRF1L

    MTRF1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/917 NCBI SNPs in MTRF1 are shown (see all 917    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1509391911,2
    C,Fother41814531(+) GACACC/TGTCAC 2 S G mis12Minor allele frequency- T:0.01NA EU 5873
    rs1889645541,2
    --41790079(+) TGCCCA/GGCTAG 1 -- ds50010--------
    rs1448049991,2
    --41790162(+) CTGCCC/TGCCTC 1 -- ds50010--------
    rs1485288351,2
    --41790183(+) AGTGCC/TGGGAT 1 -- ds50010--------
    rs1129686781,2
    --41790184(+) GTGCTA/GGGATT 1 -- ds50011Minor allele frequency- G:0.00CSA 1
    rs778724871,2
    C--41790392(+) TATTA-/CACCACAT 1 -- ds50010--------
    rs30720511,2
    C--41790395(+) TACACCAC/-ATCTA 1 -- ds50011Minor allele frequency- -:0.00NA 2
    rs2009253021,2
    C--41790483(-) TATTTC/TTTTTT 1 -- ds50010--------
    rs1118509291,2
    C--41790533(+) GTTTAC/TATAGT 1 -- ut311Minor allele frequency- T:0.50NA 2
    rs1399998481,2
    --41790577(+) GTCTGC/TACCCA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for MTRF1 (41790516 - 41837742 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for MTRF1
         1 CNV: 4799

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MTRF1
    DNA2.0 Custom Variant and Variant Library Synthesis for MTRF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MTRF1 for disorders           About GeneDecksing

    OMIM gene information: 604601    OMIM disorders: --

    6 diseases for MTRF1:    About MalaCards
    optic atrophy    leigh disease    pneumonia    tuberculosis
    malaria    mycobacterium tuberculosis

    2 diseases from the University of Copenhagen DISEASES database for MTRF1:
    Leigh disease     Ophthalmoplegia

    1 Novoseek disease relationship for MTRF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sterility male 83.6 3 14968308 (1), 17622268 (1), 12782297 (1)

    Human Genome Epidemiology (HuGE) Navigator: MTRF1 (1 document)

    Export disorders for MTRF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MTRF1 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with MTRF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and cloning of human mitochondrial translational release factor 1 and the ribosome recycling factor. (PubMed id 9838146)1, 2, 3 Zhang Y. and Spremulli L.L. (1998)
    2. mtRF1a is a human mitochondrial translation release factor decoding the major termination codons UAA and UAG. (PubMed id 17803939)1, 2 Soleimanpour-Lichaei H.R....Chrzanowska-Lightowlers Z. (2007)
    3. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Assignment of the human mitochondrial translational release factor 1 (MTRF1) to chromosome 13q14.1-->q14.3 and of the human mitochondrial ribosome recycling factor (MRRF) to chromosome 9q32-->q34.1 with radiation hybrid mapping. (PubMed id 10773675)1, 3 Hansen L.L....Justesen J. (2000)
    6. DJ-1 enhances cell survival through the binding of cezanne, a negative regulator of NF-{kappa}B. (PubMed id 21097510)1 McNally R.S.... Ting J.P. (2010)
    7. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    8. Mutations in C12orf65 in patients with encephalomyopa thy and a mitochondrial translation defect. (PubMed id 20598281)1 Antonicka H....Shoubridge E.A. (2010)
    9. HMRF1L is a human mitochondrial translation release factor involved in the decoding of the termination codons UAA and UAG. (PubMed id 18429816)1 Nozaki Y....Takeuchi N. (2008)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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, Kegg, 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 PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MTRF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MTRF1 gene:
    Search GeneIP for patents involving MTRF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for MTRF1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MTRF1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MTRF1  
     OriGene Protein Over-expression Lysate for MTRF1   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for MTRF1   Browse 3'-UTR reporter clones for miRNA target validation  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MTRF1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MTRF1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MTRF1   OriGene Custom Protein Services for MTRF1  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MTRF1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MTRF1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTRF1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MTRF1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTRF1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MTRF1
     GenScript Custom Purified and Recombinant Proteins Services for MTRF1 GenScript cDNA clones with any tag delivered in your preferred vector for MTRF1
     GenScript Custom Assay Services for MTRF1 GenScript Custom Superior Antibodies Services for MTRF1
     GenScript Custom overexpressing Cell Line Services for MTRF1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Search Regulatory tfbs for MTRF1
     Search Chromatin IP Primers for MTRF1
     RT2 qPCR Primer Assay in human, mouse, rat MTRF1
     Search GNC Networks for MTRF1
     SABiosciences Custom PCR Arrays for MTRF1
     Search Tocris compounds for MTRF1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     MTRF1 antibodies
     MTRF1 proteins
     MTRF1 lysates
     Antibodies for MTRF1
     See all of Abcam's Antibodies, Kits and Proteins for MTRF1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     MTRF1 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for MTRF1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTRF1
     SwitchGear 3'UTR luciferase reporter plasmids for MTRF1
     SwitchGear Promoter luciferase reporter plasmids for MTRF1
     Search ThermoFisher Antibodies for MTRF1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTRF1
     inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MTRF1
    Sirion Biotech Customized:
     stable knockdown cell line services for MTRF1
     inducible knockdown cell line services for MTRF1
     design and validation of potent shRNA sequences against MTRF1
     adenovirus for potent knockdown of MTRF1
     adenovirus for overexpression of MTRF1
     stable overexpressing cell line services for MTRF1
     inducible overexpressing cell line services for MTRF1
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      MTRF1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4