Human Gene ETF1 (ENST00000360541.10_7) from GENCODE V47lift37
  Description: eukaryotic translation termination factor 1, transcript variant 7 (from RefSeq NR_157090.2)
Gencode Transcript: ENST00000360541.10_7
Gencode Gene: ENSG00000120705.13_10
Transcript (Including UTRs)
   Position: hg19 chr5:137,841,784-137,878,925 Size: 37,142 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr5:137,843,994-137,878,607 Size: 34,614 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:137,841,784-137,878,925)mRNA (may differ from genome)Protein (437 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ERF1_HUMAN
DESCRIPTION: RecName: Full=Eukaryotic peptide chain release factor subunit 1; Short=Eukaryotic release factor 1; Short=eRF1; AltName: Full=Protein Cl1; AltName: Full=TB3-1;
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.
SUBUNIT: Heterodimer of two subunits, one of which binds GTP. Component of the transient SURF (SMG1-UPF1-eRF1-eRF3) complex.
SUBCELLULAR LOCATION: Cytoplasm.
SIMILARITY: Belongs to the eukaryotic release factor 1 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 40.66 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 1259.44 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -60.20158-0.381 Picture PostScript Text
3' UTR -626.702210-0.284 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005140 - eRF1_1_Pelota
IPR005141 - eRF1_2
IPR005142 - eRF1_3
IPR004403 - Peptide_chain-rel_eRF1/aRF1
IPR024049 - Release_factor_eRF1/aRF1_N

Pfam Domains:
PF03463 - eRF1 domain 1
PF03464 - eRF1 domain 2
PF03465 - eRF1 domain 3
PF18854 - Bacterial archaeo-eukaryotic release factor family 10
PF18859 - Actinobacteria/chloroflexi VLRF1 release factor

SCOP Domains:
53137 - Translational machinery components
55315 - L30e-like
55481 - N-terminal domain of eukaryotic peptide chain release factor subunit 1, ERF1

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1DT9 - X-ray 2HST - NMR MuPIT 2KTU - NMR MuPIT 2KTV - NMR MuPIT 2LGT - NMR MuPIT 2LLX - NMR MuPIT 3E1Y - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P62495
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
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 RGDEnsembl WormBaseSGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0003747 translation release factor activity
GO:0005515 protein binding
GO:0008079 translation termination factor activity
GO:0043022 ribosome binding
GO:1990825 sequence-specific mRNA binding

Biological Process:
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
GO:0006412 translation
GO:0006415 translational termination
GO:0006449 regulation of translational termination
GO:0006479 protein methylation

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  BC014269 - Homo sapiens eukaryotic translation termination factor 1, mRNA (cDNA clone MGC:10451 IMAGE:3677482), complete cds.
X81625 - H.sapiens mRNA for Cl1 protein.
JD195691 - Sequence 176715 from Patent EP1572962.
JD508485 - Sequence 489509 from Patent EP1572962.
JD563902 - Sequence 544926 from Patent EP1572962.
JD539094 - Sequence 520118 from Patent EP1572962.
JD224545 - Sequence 205569 from Patent EP1572962.
JD039725 - Sequence 20749 from Patent EP1572962.
JD279424 - Sequence 260448 from Patent EP1572962.
JD081852 - Sequence 62876 from Patent EP1572962.
JD343340 - Sequence 324364 from Patent EP1572962.
JD362937 - Sequence 343961 from Patent EP1572962.
JD556877 - Sequence 537901 from Patent EP1572962.
JD059249 - Sequence 40273 from Patent EP1572962.
JD097865 - Sequence 78889 from Patent EP1572962.
JD196440 - Sequence 177464 from Patent EP1572962.
JD250105 - Sequence 231129 from Patent EP1572962.
JD493013 - Sequence 474037 from Patent EP1572962.
JD276831 - Sequence 257855 from Patent EP1572962.
JD195992 - Sequence 177016 from Patent EP1572962.
JD440251 - Sequence 421275 from Patent EP1572962.
JD254741 - Sequence 235765 from Patent EP1572962.
M75715 - Human TB3-1 mRNA, complete cds.
X80916 - H.sapiens HCGVII mRNA.
JD230436 - Sequence 211460 from Patent EP1572962.
JD060495 - Sequence 41519 from Patent EP1572962.
JD305673 - Sequence 286697 from Patent EP1572962.
JD236702 - Sequence 217726 from Patent EP1572962.
JD423298 - Sequence 404322 from Patent EP1572962.
AK302364 - Homo sapiens cDNA FLJ56175 complete cds, highly similar to Eukaryotic peptide chain release factor subunit1.
BC088358 - Homo sapiens eukaryotic translation termination factor 1, mRNA (cDNA clone MGC:111066 IMAGE:30389626), complete cds.
JD114166 - Sequence 95190 from Patent EP1572962.
JD332135 - Sequence 313159 from Patent EP1572962.
JD144111 - Sequence 125135 from Patent EP1572962.
DQ890706 - Synthetic construct clone IMAGE:100003336; FLH165324.01X; RZPDo839A11160D eukaryotic translation termination factor 1 (ETF1) gene, encodes complete protein.
BT007374 - Homo sapiens eukaryotic translation termination factor 1 mRNA, complete cds.
AK312510 - Homo sapiens cDNA, FLJ92875, Homo sapiens eukaryotic translation termination factor 1 (ETF1),mRNA.
U90176 - Human eukaryotic release factor 1 eRF1 mRNA, complete cds.
DQ893890 - Synthetic construct Homo sapiens clone IMAGE:100008350; FLH165320.01L; RZPDo839A11159D eukaryotic translation termination factor 1 (ETF1) gene, encodes complete protein.
AK309875 - Homo sapiens cDNA, FLJ99916.
JD393876 - Sequence 374900 from Patent EP1572962.
JD475921 - Sequence 456945 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P62495 (Reactome details) participates in the following event(s):

R-HSA-927832 UPF1 binds an mRNP with a termination codon preceding an Exon Junction Complex
R-HSA-927789 Formation of UPF1:eRF3 complex on mRNA with a premature termination codon and no Exon Junction Complex
R-HSA-927889 SMG1 phosphorylates UPF1 (enhanced by Exon Junction Complex)
R-HSA-6800138 N6AMT1:TRMT112 transfers CH3 group from AdoMet to ETF1 dimer
R-HSA-141691 GTP bound eRF3:eRF1 complex binds the peptidyl tRNA:mRNA:80S Ribosome complex
R-HSA-141673 GTP Hydrolysis by eRF3 bound to the eRF1:mRNA:polypeptide:80S Ribosome complex
R-HSA-141671 Polypeptide release from the eRF3-GDP:eRF1:mRNA:80S Ribosome complex
R-HSA-9010553 Regulation of expression of SLITs and ROBOs
R-HSA-975957 Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
R-HSA-975956 Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
R-HSA-376176 Signaling by ROBO receptors
R-HSA-927802 Nonsense-Mediated Decay (NMD)
R-HSA-72764 Eukaryotic Translation Termination
R-HSA-422475 Axon guidance
R-HSA-8953854 Metabolism of RNA
R-HSA-72766 Translation
R-HSA-1266738 Developmental Biology
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B2R6B4, D3DQC1, ENST00000360541.1, ENST00000360541.2, ENST00000360541.3, ENST00000360541.4, ENST00000360541.5, ENST00000360541.6, ENST00000360541.7, ENST00000360541.8, ENST00000360541.9, ERF1, ERF1_HUMAN, NR_157090, P46055, P62495, Q5M7Z7, Q96CG1, RF1, SUP45L1, uc318bpq.1, uc318bpq.2
UCSC ID: ENST00000360541.10_7
RefSeq Accession: NM_004730.4
Protein: P62495 (aka ERF1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.