EEF1A2

Protein identityUniProt · HPA

UniProt accession

Q05639

Gene

EEF1A2

Ensembl

ENSG00000101210

Chromosome

20

Canonical length

463 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins

Subcellular location

Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

463 residues, UniProt reviewed canonical sequence.

>Q05639|EEF1A2
     1  MGKEKTHINI VVIGHVDSGK STTTGHLIYK CGGIDKRTIE KFEKEAAEMG KGSFKYAWVL
    61  DKLKAERERG ITIDISLWKF ETTKYYITII DAPGHRDFIK NMITGTSQAD CAVLIVAAGV
   121  GEFEAGISKN GQTREHALLA YTLGVKQLIV GVNKMDSTEP AYSEKRYDEI VKEVSAYIKK
   181  IGYNPATVPF VPISGWHGDN MLEPSPNMPW FKGWKVERKE GNASGVSLLE ALDTILPPTR
   241  PTDKPLRLPL QDVYKIGGIG TVPVGRVETG ILRPGMVVTF APVNITTEVK SVEMHHEALS
   301  EALPGDNVGF NVKNVSVKDI RRGNVCGDSK SDPPQEAAQF TSQVIILNHP GQISAGYSPV
   361  IDCHTAHIAC KFAELKEKID RRSGKKLEDN PKSLKSGDAA IVEMVPGKPM CVESFSQYPP
   421  LGRFAVRDMR QTVAVGVIKN VEKKSGGAGK VTKSAQKAQK AGK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EEF1A2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.23

Highest tissue expression

1,827 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EEF1A2.

Disease | AllUniProt

Conditions EEF1A2 is implicated in, by any mechanism.

• Developmental and epileptic encephalopathy 33 (DEE33) MIM:616409
• Intellectual developmental disorder, autosomal dominant 38 (MRD38) MIM:616393

Disease | GeneticClinVar

42 pathogenic / likely-pathogenic of 650 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Developmental and epileptic encephalopathy, 33
• Intellectual disability, autosomal dominant 38
• Inborn genetic diseases
• EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy
• EEF1A2-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.19

gnomAD pLI

1

gnomAD missense Z

4.82

DepMap mean gene effect

0.03

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• positive regulation of apoptotic process
• regulation of chaperone-mediated autophagy
• translation
• translational elongation
• positive regulation of lipid kinase activity

Molecular functions

• GTP binding
• GTPase activity
• metal ion binding
• protein kinase binding
• translation elongation factor activity
• translation factor activity, RNA binding

Cellular components

• cytoplasm
• cytoplasmic side of lysosomal membrane
• endoplasmic reticulum membrane
• eukaryotic translation elongation factor 1 complex
• synapse

Protein domainsUniProt · Pfam · InterPro

• Translational (tr)-type GTP-binding domain
• Translation elongation factor EFTu-like, domain 2
• Translation elongation factor EF1A, eukaryotic/archaeal
• Translation protein, beta-barrel domain superfamily
• Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal
• P-loop containing nucleoside triphosphate hydrolase
• Tr-type G domain, conserved site
• Translation factor GTPase superfamily members
• GTP-eEF1A, C-terminal domain
• Elongation factor Tu GTP binding domain
• Elongation factor Tu domain 2
• GTP-eEF1A C-terminal domain-like

KeywordsUniProt

• Acetylation
• Autism spectrum disorder
• Elongation factor
• Endoplasmic reticulum
• Epilepsy
• GTP-binding
• Hydrolase
• Intellectual disability
• Magnesium
• Membrane
• Metal-binding
• Methylation
• Nucleotide-binding
• Phosphoprotein
• Protein biosynthesis

InteractionsUniProt · HPA

Protein binding partners of EEF1A2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ABTB1
• EEF1A1
• EEF1B2
• EEF1D
• EEF1G
• TTLL12
• VARS1