UniProtKB - Q05639 (EF1A2_HUMAN)
Protein
Elongation factor 1-alpha 2
Gene
EEF1A2
Organism
Homo sapiens (Human)
Status
Functioni
This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 14 – 21 | GTPBy similarity | 8 | |
Nucleotide bindingi | 91 – 95 | GTPBy similarity | 5 | |
Nucleotide bindingi | 153 – 156 | GTPBy similarity | 4 |
GO - Molecular functioni
- GTPase activity Source: GO_Central
- GTP binding Source: UniProtKB-KW
- protein kinase binding Source: UniProtKB
- translation elongation factor activity Source: GO_Central
- translation factor activity, RNA binding Source: ProtInc
GO - Biological processi
- positive regulation of apoptotic process Source: Ensembl
- positive regulation of lipid kinase activity Source: UniProtKB
- regulation of chaperone-mediated autophagy Source: ParkinsonsUK-UCL
- response to electrical stimulus Source: Ensembl
- response to inorganic substance Source: Ensembl
- translation Source: GO_Central
- translational elongation Source: GO_Central
Keywordsi
Molecular function | Elongation factor |
Biological process | Protein biosynthesis |
Ligand | GTP-binding, Nucleotide-binding |
Enzyme and pathway databases
Reactomei | R-HSA-156842 Eukaryotic Translation Elongation |
Names & Taxonomyi
Protein namesi | Recommended name: Elongation factor 1-alpha 2Short name: EF-1-alpha-2 Alternative name(s): Eukaryotic elongation factor 1 A-2 Short name: eEF1A-2 Statin-S1 |
Gene namesi | Name:EEF1A2 Synonyms:EEF1AL, STN |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:3192 EEF1A2 |
MIMi | 602959 gene |
neXtProti | NX_Q05639 |
Subcellular locationi
Nucleus
- Nucleus By similarity
Lysosome
- cytoplasmic side of lysosomal membrane Source: ParkinsonsUK-UCL
Other locations
- cytoplasm Source: UniProtKB
- eukaryotic translation elongation factor 1 complex Source: Ensembl
- neuronal cell body Source: Ensembl
- synapse Source: Ensembl
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Epileptic encephalopathy, early infantile, 33 (EIEE33)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069395 | 70 | G → S in EIEE33. 2 PublicationsCorresponds to variant dbSNP:rs587777162EnsemblClinVar. | 1 |
Mental retardation, autosomal dominant 38 (MRD38)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD38 common features are severe intellectual disability, autistic behavior, absent speech, neonatal hypotonia, epilepsy and progressive microcephaly.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073807 | 122 | E → K in MRD38. 1 PublicationCorresponds to variant dbSNP:rs786205866EnsemblClinVar. | 1 | |
Natural variantiVAR_073808 | 252 | D → H in MRD38. 1 PublicationCorresponds to variant dbSNP:rs786205865EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 36 | K → R: Abolishes EEF1AKMT4-mediated methylation. 1 Publication | 1 | |
Mutagenesisi | 165 | K → A: Abolishes methylation by EEF1AKMT3. 1 Publication | 1 |
Keywords - Diseasei
Autism spectrum disorder, Disease mutation, Epilepsy, Mental retardationOrganism-specific databases
DisGeNETi | 1917 |
MalaCardsi | EEF1A2 |
MIMi | 616393 phenotype 616409 phenotype |
OpenTargetsi | ENSG00000101210 |
Orphaneti | 178469 Autosomal dominant non-syndromic intellectual disability 442835 Undetermined early-onset epileptic encephalopathy |
PharmGKBi | PA36219 |
Miscellaneous databases
Pharosi | Q05639 |
Chemistry databases
ChEMBLi | CHEMBL1795122 |
Polymorphism and mutation databases
BioMutai | EEF1A2 |
DMDMi | 544231 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedBy similarity | |||
ChainiPRO_0000090891 | 2 – 463 | Elongation factor 1-alpha 2Add BLAST | 462 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N,N,N-trimethylglycineBy similarity | 1 | |
Modified residuei | 36 | N6,N6,N6-trimethyllysine; alternate; by EEF1AKMT41 Publication | 1 | |
Modified residuei | 36 | N6,N6-dimethyllysine; alternate; by EEF1AKMT41 Publication | 1 | |
Modified residuei | 36 | N6-methyllysine; alternate; by EEF1AKMT41 Publication | 1 | |
Modified residuei | 55 | N6,N6,N6-trimethyllysineBy similarity | 1 | |
Modified residuei | 55 | N6,N6-dimethyllysine2 Publications | 1 | |
Modified residuei | 79 | N6,N6,N6-trimethyllysineCombined sources | 1 | |
Modified residuei | 165 | N6,N6,N6-trimethyllysine; alternate; by EEF1AKMT31 Publication | 1 | |
Modified residuei | 165 | N6,N6-dimethyllysine; alternateCombined sources | 1 | |
Modified residuei | 165 | N6-methyllysine; alternateCombined sources | 1 | |
Modified residuei | 179 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 224 | PhosphoserineBy similarity | 1 | |
Modified residuei | 301 | 5-glutamyl glycerylphosphorylethanolamineBy similarity | 1 | |
Modified residuei | 374 | 5-glutamyl glycerylphosphorylethanolamineBy similarity | 1 | |
Modified residuei | 439 | N6-acetyllysineCombined sources | 1 |
Post-translational modificationi
Trimethylated at Lys-165 by EEF1AKMT3 (PubMed:28108655). Mono-, di-, and trimethylated at Lys-36 by EEF1AKMT4; trimethylated form is predominant. Methylation by EEF1AKMT4 contributes to the fine-tuning of translation rates for a subset of tRNAs (PubMed:28520920). Trimethylated at the N-terminus by EEF1AKNMT (PubMed:30143613). Mono- and dimethylated at Lys-55 by EEF1AKNMT; dimethylated form is predominant (PubMed:30143613, PubMed:30612740).4 Publications
Keywords - PTMi
Acetylation, Methylation, PhosphoproteinProteomic databases
EPDi | Q05639 |
jPOSTi | Q05639 |
MassIVEi | Q05639 |
MaxQBi | Q05639 |
PaxDbi | Q05639 |
PeptideAtlasi | Q05639 |
PRIDEi | Q05639 |
ProteomicsDBi | 58341 |
TopDownProteomicsi | Q05639 |
PTM databases
iPTMneti | Q05639 |
PhosphoSitePlusi | Q05639 |
SwissPalmi | Q05639 |
Expressioni
Tissue specificityi
Brain, heart, and skeletal muscle.
Gene expression databases
Bgeei | ENSG00000101210 Expressed in 191 organ(s), highest expression level in cerebellar vermis |
ExpressionAtlasi | Q05639 baseline and differential |
Genevisiblei | Q05639 HS |
Organism-specific databases
HPAi | CAB034019 HPA051759 HPA053862 HPA056990 |
Interactioni
Subunit structurei
Monomer.
By similarityBinary interactionsi
GO - Molecular functioni
- protein kinase binding Source: UniProtKB
Protein-protein interaction databases
BioGridi | 108238, 155 interactors |
DIPi | DIP-40060N |
IntActi | Q05639, 80 interactors |
MINTi | Q05639 |
STRINGi | 9606.ENSP00000217182 |
Chemistry databases
BindingDBi | Q05639 |
Structurei
3D structure databases
SMRi | Q05639 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q05639 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 5 – 242 | tr-type GAdd BLAST | 238 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 14 – 21 | G1By similarity | 8 | |
Regioni | 70 – 74 | G2By similarity | 5 | |
Regioni | 91 – 94 | G3By similarity | 4 | |
Regioni | 153 – 156 | G4By similarity | 4 | |
Regioni | 194 – 196 | G5By similarity | 3 |
Sequence similaritiesi
Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily.Curated
Phylogenomic databases
eggNOGi | KOG0052 Eukaryota COG5256 LUCA |
GeneTreei | ENSGT00950000183029 |
HOGENOMi | HOG000229291 |
InParanoidi | Q05639 |
KOi | K03231 |
OMAi | CKWSEDR |
OrthoDBi | 1150082at2759 |
PhylomeDBi | Q05639 |
TreeFami | TF300304 |
Family and domain databases
HAMAPi | MF_00118_A EF_Tu_A, 1 hit |
InterProi | View protein in InterPro IPR004161 EFTu-like_2 IPR031157 G_TR_CS IPR027417 P-loop_NTPase IPR000795 TF_GTP-bd_dom IPR009000 Transl_B-barrel_sf IPR009001 Transl_elong_EF1A/Init_IF2_C IPR004539 Transl_elong_EF1A_euk/arc IPR004160 Transl_elong_EFTu/EF1A_C |
Pfami | View protein in Pfam PF00009 GTP_EFTU, 1 hit PF03144 GTP_EFTU_D2, 1 hit PF03143 GTP_EFTU_D3, 1 hit |
PRINTSi | PR00315 ELONGATNFCT |
SUPFAMi | SSF50447 SSF50447, 1 hit SSF50465 SSF50465, 1 hit SSF52540 SSF52540, 1 hit |
TIGRFAMsi | TIGR00483 EF-1_alpha, 1 hit |
PROSITEi | View protein in PROSITE PS00301 G_TR_1, 1 hit PS51722 G_TR_2, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All
Q05639-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MGKEKTHINI VVIGHVDSGK STTTGHLIYK CGGIDKRTIE KFEKEAAEMG
60 70 80 90 100
KGSFKYAWVL DKLKAERERG ITIDISLWKF ETTKYYITII DAPGHRDFIK
110 120 130 140 150
NMITGTSQAD CAVLIVAAGV GEFEAGISKN GQTREHALLA YTLGVKQLIV
160 170 180 190 200
GVNKMDSTEP AYSEKRYDEI VKEVSAYIKK IGYNPATVPF VPISGWHGDN
210 220 230 240 250
MLEPSPNMPW FKGWKVERKE GNASGVSLLE ALDTILPPTR PTDKPLRLPL
260 270 280 290 300
QDVYKIGGIG TVPVGRVETG ILRPGMVVTF APVNITTEVK SVEMHHEALS
310 320 330 340 350
EALPGDNVGF NVKNVSVKDI RRGNVCGDSK SDPPQEAAQF TSQVIILNHP
360 370 380 390 400
GQISAGYSPV IDCHTAHIAC KFAELKEKID RRSGKKLEDN PKSLKSGDAA
410 420 430 440 450
IVEMVPGKPM CVESFSQYPP LGRFAVRDMR QTVAVGVIKN VEKKSGGAGK
460
VTKSAQKAQK AGK
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A2U3TZH3 | A0A2U3TZH3_HUMAN | Elongation factor 1-alpha | EEF1A2 | 496 | Annotation score: | ||
A0A2R8Y488 | A0A2R8Y488_HUMAN | Elongation factor 1-alpha 2 | EEF1A2 | 173 | Annotation score: | ||
A0A2R8Y660 | A0A2R8Y660_HUMAN | Elongation factor 1-alpha 2 | EEF1A2 | 152 | Annotation score: | ||
A0A2R8YDN5 | A0A2R8YDN5_HUMAN | Elongation factor 1-alpha 2 | EEF1A2 | 106 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 427 | R → P in AAA91835 (PubMed:7945283).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069395 | 70 | G → S in EIEE33. 2 PublicationsCorresponds to variant dbSNP:rs587777162EnsemblClinVar. | 1 | |
Natural variantiVAR_079033 | 92 | A → T Found in a patient with Rett syndrome-like phenotype; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_073807 | 122 | E → K in MRD38. 1 PublicationCorresponds to variant dbSNP:rs786205866EnsemblClinVar. | 1 | |
Natural variantiVAR_073808 | 252 | D → H in MRD38. 1 PublicationCorresponds to variant dbSNP:rs786205865EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X70940 mRNA Translation: CAA50280.1 AF163763 Genomic DNA Translation: AAF80488.1 AB451389 mRNA Translation: BAG70203.1 AL121829 Genomic DNA No translation available. CH471077 Genomic DNA Translation: EAW75260.1 BC000432 mRNA Translation: AAH00432.1 BC110409 mRNA Translation: AAI10410.1 L10340 mRNA Translation: AAA91835.1 |
CCDSi | CCDS13522.1 |
PIRi | S35033 EFHUA2 |
RefSeqi | NP_001949.1, NM_001958.3 |
Genome annotation databases
Ensembli | ENST00000217182; ENSP00000217182; ENSG00000101210 |
GeneIDi | 1917 |
KEGGi | hsa:1917 |
UCSCi | uc002yfe.3 human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X70940 mRNA Translation: CAA50280.1 AF163763 Genomic DNA Translation: AAF80488.1 AB451389 mRNA Translation: BAG70203.1 AL121829 Genomic DNA No translation available. CH471077 Genomic DNA Translation: EAW75260.1 BC000432 mRNA Translation: AAH00432.1 BC110409 mRNA Translation: AAI10410.1 L10340 mRNA Translation: AAA91835.1 |
CCDSi | CCDS13522.1 |
PIRi | S35033 EFHUA2 |
RefSeqi | NP_001949.1, NM_001958.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3C5J | X-ray | 1.80 | C | 343-355 | [»] | |
SMRi | Q05639 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGridi | 108238, 155 interactors |
DIPi | DIP-40060N |
IntActi | Q05639, 80 interactors |
MINTi | Q05639 |
STRINGi | 9606.ENSP00000217182 |
Chemistry databases
BindingDBi | Q05639 |
ChEMBLi | CHEMBL1795122 |
PTM databases
iPTMneti | Q05639 |
PhosphoSitePlusi | Q05639 |
SwissPalmi | Q05639 |
Polymorphism and mutation databases
BioMutai | EEF1A2 |
DMDMi | 544231 |
Proteomic databases
EPDi | Q05639 |
jPOSTi | Q05639 |
MassIVEi | Q05639 |
MaxQBi | Q05639 |
PaxDbi | Q05639 |
PeptideAtlasi | Q05639 |
PRIDEi | Q05639 |
ProteomicsDBi | 58341 |
TopDownProteomicsi | Q05639 |
Protocols and materials databases
DNASUi | 1917 |
Genome annotation databases
Ensembli | ENST00000217182; ENSP00000217182; ENSG00000101210 |
GeneIDi | 1917 |
KEGGi | hsa:1917 |
UCSCi | uc002yfe.3 human |
Organism-specific databases
CTDi | 1917 |
DisGeNETi | 1917 |
GeneCardsi | EEF1A2 |
HGNCi | HGNC:3192 EEF1A2 |
HPAi | CAB034019 HPA051759 HPA053862 HPA056990 |
MalaCardsi | EEF1A2 |
MIMi | 602959 gene 616393 phenotype 616409 phenotype |
neXtProti | NX_Q05639 |
OpenTargetsi | ENSG00000101210 |
Orphaneti | 178469 Autosomal dominant non-syndromic intellectual disability 442835 Undetermined early-onset epileptic encephalopathy |
PharmGKBi | PA36219 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0052 Eukaryota COG5256 LUCA |
GeneTreei | ENSGT00950000183029 |
HOGENOMi | HOG000229291 |
InParanoidi | Q05639 |
KOi | K03231 |
OMAi | CKWSEDR |
OrthoDBi | 1150082at2759 |
PhylomeDBi | Q05639 |
TreeFami | TF300304 |
Enzyme and pathway databases
Reactomei | R-HSA-156842 Eukaryotic Translation Elongation |
Miscellaneous databases
ChiTaRSi | EEF1A2 human |
EvolutionaryTracei | Q05639 |
GeneWikii | EEF1A2 |
GenomeRNAii | 1917 |
Pharosi | Q05639 |
PROi | PR:Q05639 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000101210 Expressed in 191 organ(s), highest expression level in cerebellar vermis |
ExpressionAtlasi | Q05639 baseline and differential |
Genevisiblei | Q05639 HS |
Family and domain databases
HAMAPi | MF_00118_A EF_Tu_A, 1 hit |
InterProi | View protein in InterPro IPR004161 EFTu-like_2 IPR031157 G_TR_CS IPR027417 P-loop_NTPase IPR000795 TF_GTP-bd_dom IPR009000 Transl_B-barrel_sf IPR009001 Transl_elong_EF1A/Init_IF2_C IPR004539 Transl_elong_EF1A_euk/arc IPR004160 Transl_elong_EFTu/EF1A_C |
Pfami | View protein in Pfam PF00009 GTP_EFTU, 1 hit PF03144 GTP_EFTU_D2, 1 hit PF03143 GTP_EFTU_D3, 1 hit |
PRINTSi | PR00315 ELONGATNFCT |
SUPFAMi | SSF50447 SSF50447, 1 hit SSF50465 SSF50465, 1 hit SSF52540 SSF52540, 1 hit |
TIGRFAMsi | TIGR00483 EF-1_alpha, 1 hit |
PROSITEi | View protein in PROSITE PS00301 G_TR_1, 1 hit PS51722 G_TR_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | EF1A2_HUMAN | |
Accessioni | Q05639Primary (citable) accession number: Q05639 Secondary accession number(s): B5BUF3 Q0VGC7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 1994 |
Last sequence update: | June 1, 1994 | |
Last modified: | November 13, 2019 | |
This is version 209 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Complete proteome, Reference proteomeDocuments
- Human chromosome 20
Human chromosome 20: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references