Human Gene EEF1A2 (ENST00000217182.6) from GENCODE V44
  Description: Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA. (from RefSeq NM_001958)
RefSeq Summary (NM_001958): This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. [provided by RefSeq, Mar 2014].
Gencode Transcript: ENST00000217182.6
Gencode Gene: ENSG00000101210.14
Transcript (Including UTRs)
   Position: hg38 chr20:63,488,014-63,499,083 Size: 11,070 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chr20:63,488,298-63,497,763 Size: 9,466 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:63,488,014-63,499,083)mRNA (may differ from genome)Protein (463 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EF1A2_HUMAN
DESCRIPTION: RecName: Full=Elongation factor 1-alpha 2; Short=EF-1-alpha-2; AltName: Full=Eukaryotic elongation factor 1 A-2; Short=eEF1A-2; AltName: Full=Statin-S1;
FUNCTION: This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis.
SUBUNIT: Monomer (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Brain, heart, and skeletal muscle.
SIMILARITY: Belongs to the GTP-binding elongation factor family. EF-Tu/EF-1A subfamily.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/EEF1A2ID40408ch20q13.html";

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: EEF1A2
Diseases sorted by gene-association score: mental retardation, autosomal dominant 38* (1330), epileptic encephalopathy, early infantile, 33* (1230), autosomal dominant non-syndromic intellectual disability* (90), undetermined early-onset epileptic encephalopathy* (82), liver sarcoma (11), retinitis pigmentosa 49 (8), legionellosis (7), intellectual disability (2)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1138.12 RPKM in Muscle - Skeletal
Total median expression: 5312.10 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 -27.1097-0.279 Picture PostScript Text
3' UTR -121.20284-0.427 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
IPR000795 - ProtSyn_GTP-bd
IPR009001 - Transl_elong_EF1A/Init_IF2_C
IPR004539 - Transl_elong_EF1A_euk/arc
IPR004161 - Transl_elong_EFTu/EF1A_2
IPR004160 - Transl_elong_EFTu/EF1A_C
IPR009000 - Transl_elong_init/rib_B-barrel

Pfam Domains:
PF00009 - Elongation factor Tu GTP binding domain
PF03144 - Elongation factor Tu domain 2
PF03143 - Elongation factor Tu C-terminal domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3C5J - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q05639
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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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003746 translation elongation factor activity
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0008135 translation factor activity, RNA binding
GO:0019901 protein kinase binding

Biological Process:
GO:0006412 translation
GO:0006414 translational elongation
GO:0010035 response to inorganic substance
GO:0043065 positive regulation of apoptotic process
GO:0051602 response to electrical stimulus
GO:0090218 positive regulation of lipid kinase activity
GO:1904714 regulation of chaperone-mediated autophagy

Cellular Component:
GO:0005737 cytoplasm
GO:0005853 eukaryotic translation elongation factor 1 complex
GO:0043025 neuronal cell body
GO:0043209 myelin sheath
GO:0098574 cytoplasmic side of lysosomal membrane
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  X70940 - H.sapiens mRNA for elongation factor 1 alpha-2.
BC018855 - Homo sapiens eukaryotic translation elongation factor 1 alpha 2, mRNA (cDNA clone IMAGE:3161327).
L10340 - Human elongation factor-1 alpha (ef-1) mRNA, 3' end.
BC000432 - Homo sapiens eukaryotic translation elongation factor 1 alpha 2, mRNA (cDNA clone MGC:8362 IMAGE:2819899), complete cds.
BC110409 - Homo sapiens eukaryotic translation elongation factor 1 alpha 2, mRNA (cDNA clone MGC:117295 IMAGE:5741243), complete cds.
AK307536 - Homo sapiens cDNA, FLJ97484.
JD336631 - Sequence 317655 from Patent EP1572962.
JD375877 - Sequence 356901 from Patent EP1572962.
JD404991 - Sequence 386015 from Patent EP1572962.
JD129493 - Sequence 110517 from Patent EP1572962.
JD405853 - Sequence 386877 from Patent EP1572962.
KJ891087 - Synthetic construct Homo sapiens clone ccsbBroadEn_00481 EEF1A2 gene, encodes complete protein.
DQ894570 - Synthetic construct Homo sapiens clone IMAGE:100009030; FLH176500.01L; RZPDo839E01121D eukaryotic translation elongation factor 1 alpha 2 (EEF1A2) gene, encodes complete protein.
AB451389 - Homo sapiens EEF1A2 mRNA for eukaryotic translation elongation factor 1 alpha 2, partial cds, clone: FLJ08079AAAF.
AB209064 - Homo sapiens mRNA for eukaryotic translation elongation factor 1 alpha 2 variant protein.
CU674218 - Synthetic construct Homo sapiens gateway clone IMAGE:100018315 5' read EEF1A2 mRNA.
JD487590 - Sequence 468614 from Patent EP1572962.
JD191033 - Sequence 172057 from Patent EP1572962.
JD247554 - Sequence 228578 from Patent EP1572962.

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

Protein Q05639 (Reactome details) participates in the following event(s):

R-HSA-156909 eEF1A complexes with GTP
R-HSA-156842 Eukaryotic Translation Elongation
R-HSA-72766 Translation
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B5BUF3, E1P5J1, EEF1AL, EF1A2_HUMAN, ENST00000217182.1, ENST00000217182.2, ENST00000217182.3, ENST00000217182.4, ENST00000217182.5, NM_001958, P54266, Q05639, Q0VGC7, STN, uc002yfe.1, uc002yfe.2, uc002yfe.3, uc002yfe.4, uc002yfe.5
UCSC ID: ENST00000217182.6
RefSeq Accession: NM_001958
Protein: Q05639 (aka EF1A2_HUMAN or EF12_HUMAN)
CCDS: CCDS13522.1

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