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

ETF1 Gene

protein-coding   GIFtS: 62
GCID: GC05M137843

Eukaryotic Translation Termination Factor 1


(Previous symbols: SUP45L1, ERF1, ERF)
  Search for ETF1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Eukaryotic Translation Termination Factor 11 2     Protein Cl12 3
ERF11 2 3 5     TB3-12 3
SUP45L11 2 3     D5S19952
RF12 3 5     Eukaryotic Peptide Chain Release Factor Subunit 12
ERF1 2     eRF13
Polypeptide Chain Release Factor 11 2     Eukaryotic Release Factor 13
Sup45 (Yeast Omnipotent Suppressor 45) Homolog-Like 11 2     

External Ids:    HGNC: 34771   Entrez Gene: 21072   Ensembl: ENSG000001207057   OMIM: 6002855   UniProtKB: P624953   

Export aliases for ETF1 gene to outside databases

Previous GC identifers: GC05M137716 GC05M138516 GC05M137872 GC05M137918 GC05M137869 GC05M133032


(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 ETF1 Gene:
This gene encodes a class-1 polypeptide chain release factor. The encoded protein plays an essential role in
directing termination of mRNA translation from the termination codons UAA, UAG and UGA. This protein is a
component of the SURF complex which promotes degradation of prematurely terminated mRNAs via the mechanism of
nonsense-mediated mRNA decay (NMD). Alternate splicing results in multiple transcript variants. Pseudogenes of
this gene are found on chromosomes 6, 7, and X. (provided by RefSeq, Aug 2013)

GeneCards Summary for ETF1 Gene: 
ETF1 (eukaryotic translation termination factor 1) is a protein-coding gene. Among its related super-pathways are Nonsense Mediated Decay Independent of the Exon Junction Complex and Metabolism of RNA. GO annotations related to this gene include RNA binding and translation release factor activity.

UniProtKB/Swiss-Prot: ERF1_HUMAN, P62495
Function: Directs the termination of nascent peptide synthesis (translation) in response to the termination codons
UAA, UAG and UGA. Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context
of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons

Gene Wiki entry for ETF1 (Eukaryotic release factors) Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_034772.6  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ETF1 gene promoter:
         GR   TBP   GR-beta   GATA-1   C/EBPalpha   CHOP-10   POU2F1   POU2F1a   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidETF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ETF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ETF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q31.1   Ensembl cytogenetic band:  5q31.2   HGNC cytogenetic band: 5q31.2

ETF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ETF1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M137843:  view genomic region     (about GC identifiers)

Start:
137,841,784 bp from pter      End:
137,878,989 bp from pter
Size:
37,206 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ERF1_HUMAN, P62495 (See protein sequence)
Recommended Name: Eukaryotic peptide chain release factor subunit 1  
Size: 437 amino acids; 49031 Da
Subunit: Heterodimer of two subunits, one of which binds GTP. Component of the transient SURF
(SMG1-UPF1-eRF1-eRF3) complex
Subcellular location: Cytoplasm
6/7 PDB 3D structures from and Proteopedia for ETF1 (see all 7):
1DT9 (3D)        2HST (3D)        2KTU (3D)        2KTV (3D)        2LGT (3D)        2LLX (3D)    
Secondary accessions: B2R6B4 D3DQC1 P46055 Q5M7Z7

Explore the universe of human proteins at neXtProt for ETF1: NX_P62495

Explore proteomics data for ETF1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P62495

  • ETF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ETF1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001243231.1  NP_001269114.1  NP_004721.1  

    ENSEMBL proteins: 
     ENSP00000421288   ENSP00000353741   ENSP00000422203   ENSP00000422272   ENSP00000461082  
     ENSP00000425689  
    Reactome Protein details: P62495
    Human Recombinant Protein Products for ETF1: 
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    Novus Biologicals ETF1 Proteins
    Novus Biologicals ETF1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ETF1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS7990965
    GO:0005829cytosol TAS--

    ETF1 for ontologies           About GeneDecksing



    ETF1 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for ETF1 
    Cloud-Clone Corp. CLIAs for ETF1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR005140 eRF1_1_Pelota
     IPR004403 Peptide_chain-rel_eRF1/aRF1
     IPR024049 Release_factor_eRF1/aRF1_N
     IPR005141 eRF1_2
     IPR005142 eRF1_3

    Graphical View of Domain Structure for InterPro Entry P62495

    ProtoNet protein and cluster: P62495

    1 Blocks protein domain: IPB004038 Ribosomal protein L7Ae/L30e/S12e/Gadd45

    UniProtKB/Swiss-Prot: ERF1_HUMAN, P62495
    Similarity: Belongs to the eukaryotic release factor 1 family


    ETF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ERF1_HUMAN, P62495
    Function: Directs the termination of nascent peptide synthesis (translation) in response to the termination codons
    UAA, UAG and UGA. Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context
    of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons

         Genatlas biochemistry entry for ETF1:
    eukaryotic translation termination factor 1,associating with the catalytic subunit of protein phosphatase 2A

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding TAS7990965
    GO:0003747translation release factor activity TAS15326224
    GO:0005515protein binding IPI18256688
    GO:0008079translation termination factor activity TAS10413110
    GO:0016149translation release factor activity, codon specific IEA--
         
    ETF1 for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for ETF1:
     Decreased DCP1a protein expres  Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 
     Decreased Tat-dependent transc  Decreased p24 protein expressi 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ETF1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ETF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ETF1 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidETF1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ETF1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Viral mRNA Translation
    Eukaryotic Translation Termination0.94
    Nonsense Mediated Decay Enhanced by the Exon Junction Complex0.84
    Nonsense Mediated Decay Independent of the Exon Junction Complex0.94
    Translation0.78
    Nonsense-Mediated Decay0.84
    2Metabolism of mRNA
    Metabolism of mRNA0.92
    Metabolism of RNA0.92
    3Generic Transcription Pathway
    Gene Expression0.47
    4Asparagine N-linked glycosylation
    Metabolism of proteins0.35
    5mRNA surveillance pathway
    mRNA surveillance pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ETF1
        Translation Factors

    5/9        Reactome Pathways for ETF1 (see all 9)
        Nonsense Mediated Decay Independent of the Exon Junction Complex
    Nonsense-Mediated Decay
    Translation
    Eukaryotic Translation Termination
    Nonsense Mediated Decay Enhanced by the Exon Junction Complex


    1         Kegg Pathway  (Kegg details for ETF1):
        mRNA surveillance pathway


    ETF1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ETF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/902 Interacting proteins for ETF1 (P624952, 3 ENSP000003537414) via UniProtKB, MINT, STRING, and/or I2D (see all 902)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GSPT1P151702, 3, ENSP000003981314MINT-7945693 MINT-6539807 MINT-6539753 I2D: score=3 STRING: ENSP00000398131
    PHGDHO431752, 3, ENSP000003584174MINT-7945693 MINT-7947479 I2D: score=6 STRING: ENSP00000358417
    EEF1A1P681042, 3, ENSP000003300544MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000330054
    KEAP1Q141452, 3, ENSP000001711114MINT-67987 I2D: score=5 STRING: ENSP00000171111
    EIF2S2P200422, 3, ENSP000003641194MINT-7945693 I2D: score=2 STRING: ENSP00000364119
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000184nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS--
    GO:0006412translation TAS--
    GO:0006415translational termination TAS--
    GO:0006449regulation of translational termination TAS7990965
    GO:0006479protein methylation IDA18539146

    ETF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ETF1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ETF1 (ERF1)

    1 HMDB Compound for ETF1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    10/13 Novoseek inferred chemical compound relationships for ETF1 gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    4-thiouridine 77.1 2 12356746 (1), 12909007 (1)
    gtp 67.4 41 8634914 (5), 16914449 (3), 16637272 (2), 8722024 (2) (see all 16)
    aminoacyl-trna 66.8 4 14714488 (1), 11017194 (1), 16637272 (1)
    trna 64.8 7 2038055 (2), 12859902 (1), 16257010 (1), 12575998 (1) (see all 5)
    gdp 62.3 15 16914449 (3), 16637272 (2), 19906736 (2), 9233821 (2) (see all 8)
    tripeptide 58.7 6 12356746 (1), 11904176 (1), 17573528 (1), 15475364 (1)
    selenocysteine 48.9 2 11453681 (2)
    tripeptide s 38.2 1 10688208 (1)
    puromycin 35.6 2 12446775 (1), 16444758 (1)
    tetrapeptide 28.9 3 11911360 (1), 16777602 (1)

    Search CenterWatch for drugs/clinical trials and news about ETF1 / ERF1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ETF1 gene (3 alternative transcripts): 
    NM_001256302.1  NM_001282185.1  NM_004730.3  

    Unigene Cluster for ETF1:

    Eukaryotic translation termination factor 1
    Hs.483494  [show with all ESTs]
    Unigene Representative Sequence: NR_045994
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000499810(uc011cyv.2 uc003ldd.4) ENST00000360541(uc003ldc.4 uc010jex.3)
    ENST00000503014 ENST00000506345(uc010jey.1) ENST00000512198 ENST00000503183
    ENST00000572514 ENST00000507939 ENST00000514005
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    8/83 QIAGEN miScript miRNA Assays for microRNAs that regulate ETF1 (see all 83):
    hsa-miR-548j hsa-miR-300 hsa-miR-3074-3p hsa-miR-629* hsa-miR-548a-5p hsa-miR-200b hsa-miR-3622a-5p hsa-miR-559
    SwitchGear 3'UTR luciferase reporter plasmidETF1 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK302364.1 AK309875.1 AK312510.1 BC014269.2 BC088358.1 BT007374.1 M75715.1 NR_045992.1 
    NR_045994.1 U90176.1 X80916.1 X81625.1 

    13 DOTS entries:

    DT.446598  DT.100718795  DT.95352592  DT.91803949  DT.75170403  DT.97854053  DT.100666802  DT.100666800 
    DT.95235884  DT.95235863  DT.120840023  DT.91762750  DT.97854054 

    24/380 AceView cDNA sequences (see all 380):

    AW300634 AU139134 BU172713 BM978827 BQ448171 AI243002 BU507547 BQ214374 
    BQ000630 AV716184 AA421990 BE887069 BU178373 AA481299 AA456664 BT007374 
    BM819293 CR622518 AA643677 BV178459 AA252170 BM844394 BQ009320 CR599885 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ETF1 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for ETF1

    (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

    ETF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAATTTAAGT
    ETF1 Expression
    About this image


    See ETF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ETF1

    SOURCE GeneReport for Unigene cluster: Hs.483494
        SABiosciences Custom PCR Arrays for ETF1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ETF1

    (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 common ancestor of eukaryotes.

    Orthologs for ETF1 gene from 10/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Etf11 , 5 eukaryotic translation termination factor 11, 5 94.97(n)1
    100(a)1
      18 (18.78 cM)5
    2253631  NM_144866.31  NP_659115.31 
     349027855 
    chicken
    (Gallus gallus)
    Aves ETF11 eukaryotic translation termination factor 1 88.86(n)
    100(a)
      416182  XM_414511.3  XP_414511.2 
    lizard
    (Anolis carolinensis)
    Reptilia ETF16
    Uncharacterized protein
    100(a)
    1 ↔ 1
    1(130969316-131008059)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.33332 X.laevis XLCL1 mRNA 84.08(n)    X54055.1 
    zebrafish
    (Danio rerio)
    Actinopterygii etf12 Danio rerio mRNA similar to eukaryotic translation more 80.29(n)    BC044515.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta eRF11 , 3 translational termination translation
    termination more3
    eukaryotic release factor 11
    84(a)3
    71.02(n)1
    85.78(a)1
      402401  NM_140953.21  NP_649210.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T05H4.6a3
    etf-11
    eukaryotic peptide chain release factor
    subunit more3
    Protein ETF-11
    80(a)
    (best of 2)3
    70.74(n)1
    78.57(a)1
      V(6436760-6438231)3
    1790281  NM_001028936.31  NP_001024107.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SUP45(YBR143C)4
    SUP451
    Polypeptide release factor (eRF1) in translation termination; more4
    Sup45p1
    66.04(n)1
    68.71(a)1
      2(532182-530869)4
    8524401, 4  NP_009701.31  NP_009701.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ERF1-11 peptide chain release factor eRF subunit 1 65.65(n)
    72.47(a)
      834839  NM_001036952.1  NP_001032029.1 
    rice
    (Oryza sativa)
    Liliopsida Os.70092 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 76.95(n)    AK103740.1 


    ENSEMBL Gene Tree for ETF1 (if available)
    TreeFam Gene Tree for ETF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ETF1 gene

    ETF1 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for ETF1
    PGOHUM00000245703 PGOHUM00000243567 PGOHUM00000233650 PGOHUM00000241819


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/765 SNPs in ETF1 are shown (see all 765)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs100718631,2
    C,F,H--137841467(+) tgctgG/Agttat 3 -- ds50016Minor allele frequency- A:0.04NS EA WA 538
    rs1453601161,2
    --137841582(+) GAACCA/TTCTTC 3 -- ds50010--------
    rs1510255011,2
    --137841583(+) AACCTC/TCTTCT 3 -- ds50010--------
    rs1399903971,2
    --137841689(+) TGCTAC/TTGGCC 3 -- ds50010--------
    rs1498508261,2
    --137841720(+) CTTGGA/TGAACT 3 -- ds50010--------
    rs2020929981,2
    --137841722(+) GGAGA-/ACTC  
            
    ACTGT
    3 -- ds50010--------
    rs1458350511,2
    --137841728(+) ACTGTC/TTCCAC 3 -- ds50010--------
    rs1406561141,2
    --137841796(+) AAATAC/TGGTTT 3 -- ut31 nc-transcript-variant0--------
    rs1129854601,2
    C--137841890(+) GGCTAA/C/GGGTTT 6 -- ut31 nc-transcript-variant1CSA 1
    rs10501311,2
    C--137842211(-) AAACAT/CGCTCT 3 -- ut31 nc-transcript-variant1Minor allele frequency- C:0.00NA 2

    HapMap Linkage Disequilibrium report for ETF1 (137841784 - 137878989 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ETF1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2677157CNV Deletion23128226
    esv2669716CNV Deletion23128226
    nsv329728CNV Loss16902084

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

    ETF1 for disorders           About MalaCards
    OMIM gene information: 600285    OMIM disorders: --


    ETF1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ETF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mimicry 33.2 2 10958930 (1), 11788716 (1)

    Genetic Association Database (GAD): ETF1
    Human Genome Epidemiology (HuGE) Navigator: ETF1 (1 document)

    Export disorders for ETF1 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 ETF1 gene, integrated from 9 sources (see all 150):
    (articles sorted by number of sources associating them with ETF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A highly conserved eukaryotic protein family possessing properties of polypeptide chain release factor. (PubMed id 7990965)1, 2, 3, 9 Frolova L.... Kisselev L. (1994)
    2. The catalytic subunit of protein phosphatase 2A associates with the translation termination factor eRF1. (PubMed id 9003791)1, 2, 9 Andjelkovic N.... Hemmings B.A. (1996)
    3. Human release factor eRF1: structural organisation of the unique functional gene on chromosome 5 and of the three processed pseudogenes. (PubMed id 10413110)1, 2, 9 Guenet L....Le Treut A. (1999)
    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. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
    6. The crystal structure of human eukaryotic release factor eRF1 -- mechanism of stop codon recognition and peptidyl-tRNA hydrolysis. (PubMed id 10676813)1, 2 Song H.... Barford D. (2000)
    7. Identification of a human cDNA with high homology to yeast omnipotent suppressor 45. (PubMed id 1537561)1, 2 Grenett H.E.... Bounelis P. (1992)
    8. Chromosomal localization of a human cDNA containing a DIDS binding domain and demonstrating high homology to yeast omnipotent suppressor 45. (PubMed id 1546371)1, 3 Grenett H.E....Fuller G.M. (1992)
    9. Stop codons and UGG promote efficient binding of the polypeptide release factor eRF1 to the ribosomal A site. (PubMed id 12909007)1, 9 Chavatte L....Favre A. (2003)
    10. The invariant uridine of stop codons contacts the conserved NIKSR loop of human eRF1 in the ribosome. (PubMed id 12356746)1, 9 Chavatte L....Favre A. (2002)

    (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: 2107 HGNC: 3477 AceView: ETF1 Ensembl:ENSG00000120705 euGenes: HUgn2107
    ECgene: ETF1 Kegg: 2107 H-InvDB: ETF1

    (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 ETF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ETF1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ETF1 gene:
    Search GeneIP for patents involving ETF1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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