Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ETF1 (eukaryotic translation termination factor 1)

Identity

Other namesD5S1995
ERF
ERF1
RF1
SUP45L1
TB3-1
HGNC (Hugo) ETF1
LocusID (NCBI) 2107
Atlas_Id 40501
Location 5q31.2
Location_base_pair Starts at 137841782 and ends at 137878989 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)ETF1   3477
Cards
Entrez_Gene (NCBI)ETF1  2107  eukaryotic translation termination factor 1
GeneCards (Weizmann)ETF1
Ensembl hg19 (Hinxton)ENSG00000120705 [Gene_View]  chr5:137841782-137878989 [Contig_View]  ETF1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000120705 [Gene_View]  chr5:137841782-137878989 [Contig_View]  ETF1 [Vega]
ICGC DataPortalENSG00000120705
TCGA cBioPortalETF1
AceView (NCBI)ETF1
Genatlas (Paris)ETF1
WikiGenes2107
SOURCE (Princeton)ETF1
Genomic and cartography
GoldenPath hg19 (UCSC)ETF1  -     chr5:137841782-137878989 -  5q31.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ETF1  -     5q31.2   [Description]    (hg38-Dec_2013)
EnsemblETF1 - 5q31.2 [CytoView hg19]  ETF1 - 5q31.2 [CytoView hg38]
Mapping of homologs : NCBIETF1 [Mapview hg19]  ETF1 [Mapview hg38]
OMIM600285   
Gene and transcription
Genbank (Entrez)AK302364 AK309875 AK312510 AL553004 AW131045
RefSeq transcript (Entrez)NM_001256302 NM_001282185 NM_001291974 NM_001291975 NM_004730
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_034772 NW_004929323
Consensus coding sequences : CCDS (NCBI)ETF1
Cluster EST : UnigeneHs.483494 [ NCBI ]
CGAP (NCI)Hs.483494
Alternative Splicing : Fast-db (Paris)GSHG0025100
Alternative Splicing GalleryENSG00000120705
Gene ExpressionETF1 [ NCBI-GEO ]     ETF1 [ SEEK ]   ETF1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP62495 (Uniprot)
NextProtP62495  [Medical]  [Publications]
With graphics : InterProP62495
Splice isoforms : SwissVarP62495 (Swissvar)
Domains : Interpro (EBI)eRF1_1_Pelota    eRF1_2    eRF1_3    L30e-like    Peptide_chain-rel_eRF1/aRF1    Release_factor_eRF1/aRF1_N   
Related proteins : CluSTrP62495
Domain families : Pfam (Sanger)eRF1_1 (PF03463)    eRF1_2 (PF03464)    eRF1_3 (PF03465)   
Domain families : Pfam (NCBI)pfam03463    pfam03464    pfam03465   
DMDM Disease mutations2107
Blocks (Seattle)P62495
PDB (SRS)1DT9    2HST    2KTU    2KTV    2LGT    2LLX    3E1Y    3J5Y    4D5N    4D61   
PDB (PDBSum)1DT9    2HST    2KTU    2KTV    2LGT    2LLX    3E1Y    3J5Y    4D5N    4D61   
PDB (IMB)1DT9    2HST    2KTU    2KTV    2LGT    2LLX    3E1Y    3J5Y    4D5N    4D61   
PDB (RSDB)1DT9    2HST    2KTU    2KTV    2LGT    2LLX    3E1Y    3J5Y    4D5N    4D61   
Human Protein AtlasENSG00000120705
Peptide AtlasP62495
HPRD02616
IPIIPI00429191   IPI00968296   IPI00967460   IPI00964335   IPI00967974   
Protein Interaction databases
DIP (DOE-UCLA)P62495
IntAct (EBI)P62495
FunCoupENSG00000120705
BioGRIDETF1
IntegromeDBETF1
STRING (EMBL)ETF1
Ontologies - Pathways
QuickGOP62495
Ontology : AmiGOnuclear-transcribed mRNA catabolic process, nonsense-mediated decay  RNA binding  translation release factor activity  protein binding  nucleus  cytoplasm  cytosol  cytosol  translation  translational termination  regulation of translational termination  protein methylation  translation termination factor activity  gene expression  translation release factor activity, codon specific  translation release factor complex  ribosome binding  cellular protein metabolic process  poly(A) RNA binding  
Ontology : EGO-EBInuclear-transcribed mRNA catabolic process, nonsense-mediated decay  RNA binding  translation release factor activity  protein binding  nucleus  cytoplasm  cytosol  cytosol  translation  translational termination  regulation of translational termination  protein methylation  translation termination factor activity  gene expression  translation release factor activity, codon specific  translation release factor complex  ribosome binding  cellular protein metabolic process  poly(A) RNA binding  
Pathways : KEGGmRNA surveillance pathway   
Protein Interaction DatabaseETF1
DoCM (Curated mutations)ETF1
Wikipedia pathwaysETF1
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerETF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ETF1
dbVarETF1
ClinVarETF1
1000_GenomesETF1 
Exome Variant ServerETF1
SNP (GeneSNP Utah)ETF1
SNP : HGBaseETF1
Genetic variants : HAPMAPETF1
Genomic Variants (DGV)ETF1 [DGVbeta]
Mutations
ICGC Data PortalETF1 
TCGA Data PortalETF1 
Tumor PortalETF1
Somatic Mutations in Cancer : COSMICETF1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)5:137841782-137878989
CONAN: Copy Number AnalysisETF1 
Mutations and Diseases : HGMDETF1
OMIM600285   
MedgenETF1
NextProtP62495 [Medical]
GENETestsETF1
Disease Genetic AssociationETF1
Huge Navigator ETF1 [HugePedia]  ETF1 [HugeCancerGEM]
snp3D : Map Gene to Disease2107
DGIdb (Drug Gene Interaction db)ETF1
BioCentury BCIQETF1
General knowledge
Homologs : HomoloGeneETF1
Homology/Alignments : Family Browser (UCSC)ETF1
Phylogenetic Trees/Animal Genes : TreeFamETF1
Chemical/Protein Interactions : CTD2107
Chemical/Pharm GKB GenePA27893
Clinical trialETF1
Cancer Resource (Charite)ENSG00000120705
Other databases
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
CoreMineETF1
GoPubMedETF1
iHOPETF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 27 11:31:54 CEST 2015

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