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ETF1 Gene

protein-coding   GIFtS: 65
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NT_034772.7  NC_018916.2  
Regulatory elements:
   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 Chromatin IP Primers for ETF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
Selected PDB 3D structures from and Proteopedia for ETF1 (see all 8):
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: 

  • Ubiquitination2 at Lys171, Lys384, Lys404
  • Modification sites at PhosphoSitePlus

  • See ETF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

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    Novus Biologicals ETF1 Proteins
    Novus Biologicals ETF1 Lysate
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    Search eBioscience for ELISAs for ETF1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with ETF1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 7):    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--
         
    Find genes that share ontologies with ETF1           About GenesLikeMe


    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: Let us create your new Knockout/Knockin mouse model for ETF1
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    miRNA
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    hsa-mir-125b-5p (MIRT046100), hsa-mir-128-3p (MIRT045869), hsa-mir-423-3p (MIRT042497)

    Block miRNA regulation of human, mouse, rat ETF1 using miScript Target Protectors
    Selected qRT-PCR 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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    Gene Editing
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    Sino Biological Human cDNA Clone for ETF1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ETF1

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    eBioscience FlowRNA Probe Sets ( VA1-12129) for ETF1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ERF1_HUMAN, P62495: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    peroxisome2

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with ETF1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ETF1 About    
    See pathways by source

    SuperPathContained pathways About
    1Influenza Viral RNA Transcription and Replication
    Nonsense Mediated Decay Independent of the Exon Junction Complex0.94
    Nonsense Mediated Decay Enhanced by the Exon Junction Complex0.89
    Eukaryotic Translation Termination0.93
    Translation0.82
    Nonsense-Mediated Decay0.89
    2Gene Expression
    Gene Expression0.40
    3Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    4Translation Factors
    Translation Factors
    5mRNA surveillance pathway
    mRNA surveillance pathway


    Find genes that share SuperPaths with ETF1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ETF1
        Translation Factors


    3 Reactome Pathways for ETF1
        Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
    Eukaryotic Translation Termination
    Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ETF1
    Interactions:

        GeneGlobe Interaction Network for ETF1

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

    Selected Interacting proteins for ETF1 (P624951, 2, 3 ENSP000003537414) via UniProtKB, MINT, STRING, and/or I2D (see all 965)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GSPT1P151701, 2, 3, ENSP000003981314EBI-1047744,EBI-948993 MINT-7945693 MINT-6539807 MINT-6539753 I2D: score=3 STRING: ENSP00000398131
    PHGDHO431752, 3, ENSP000003584174MINT-7945693 MINT-7947479 I2D: score=6 STRING: ENSP00000358417
    DDX19AQ9NUU72, 3, ENSP000003061174MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000306117
    KEAP1Q141452, 3, ENSP000001711114MINT-67987 I2D: score=5 STRING: ENSP00000171111
    USO1O607632, 3, ENSP000004116984MINT-7947479 I2D: score=4 STRING: ENSP00000411698
    About this table

    Gene Ontology (GO): Selected biological process terms (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

    Find genes that share ontologies with ETF1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--

    Selected 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)



    Find genes that share compounds with ETF1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    miRNA
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    Selected qRT-PCR 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
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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: ETF1 (NM_004730)
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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 

    Selected AceView cDNA sequences (see all 380):

    CR599885 BQ773982 BQ448171 CD677631 AI753610 CN480515 AV716184 BQ425147 
    BQ000630 CA425393 CB140518 BQ009589 CA848799 AW300634 BC014269 AI093910 
    BM693288 CR600366 CB240710 AI280420 BM458072 BM819293 BI335841 BM759996 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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


    ETF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Lung (Respiratory System)
     
     Testis (Reproductive System)
     
     Esophagus (Gastrointestinal Tract)
     
     Placenta (Extraembryonic Tissues)
    ETF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ETF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.483494
        Custom PCR Arrays for ETF1
    Primer
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    In Situ
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    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ETF1 gene from Selected 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_414511.4  XP_414511.2 
    lizard
    (Anolis carolinensis)
    Reptilia ETF16
    eukaryotic translation termination factor 1
    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_140953.31  NP_649210.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T05H4.6a3
    etf-11
    eukaryotic peptide chain release factor
    subunit more3
    etf-11
    80(a)
    (best of 2)3
    71.93(n)1
    81.07(a)1
      V(6436760-6438231)3
    1790281  NM_001028936.41  NP_001024107.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SUP45(YBR143C)4
    SUP451
    Polypeptide release factor (eRF1) in translation termination; more4
    SUP451
    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 ERF1-1 65.65(n)
    72.47(a)
      834839  NM_124162.3  NP_199599.1 
    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)
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    Paralogs for ETF1 gene

    Find genes that share paralogs with ETF1           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ETF1 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ETF1
    DNA2.0 Custom Variant and Variant Library Synthesis for ETF1

    (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.)
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    OMIM gene information: 600285    OMIM disorders: --


    Find genes that share disorders with ETF1           About GenesLikeMe

    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)
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    PubMed articles for ETF1 gene, integrated from 10 sources (see all 152):
    (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. (Nature 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. (EMBO J. 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. (FEBS Lett. 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. (Genome Res. 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. (Nat. Biotechnol. 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. (Cell 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. (Gene 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. (Somat. Cell Mol. Genet. 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. (J. Mol. Biol. 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. (EMBO J. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 2107 HGNC: 3477 AceView: ETF1 Ensembl:ENSG00000120705 euGenes: HUgn2107
    ECgene: ETF1 Kegg: 2107 H-InvDB: ETF1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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