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Protein

Elongation factor 1-alpha 2

Gene

EEF1A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi14 – 21GTPBy similarity8
Nucleotide bindingi91 – 95GTPBy similarity5
Nucleotide bindingi153 – 156GTPBy similarity4

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

Keywordsi

Molecular functionElongation factor
Biological processProtein biosynthesis
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-156842 Eukaryotic Translation Elongation

Names & Taxonomyi

Protein namesi
Recommended name:
Elongation factor 1-alpha 2
Short 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000101210.10
HGNCiHGNC:3192 EEF1A2
MIMi602959 gene
neXtProtiNX_Q05639

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & 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.
See also OMIM:616409
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06939570G → 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.
See also OMIM:616393
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073807122E → K in MRD38. 1 PublicationCorresponds to variant dbSNP:rs786205866EnsemblClinVar.1
Natural variantiVAR_073808252D → H in MRD38. 1 PublicationCorresponds to variant dbSNP:rs786205865EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi36K → R: Abolishes EEF1AKMT4-mediated methylation. 1 Publication1
Mutagenesisi165K → A: Abolishes methylation by EEF1AKMT3. 1 Publication1

Keywords - Diseasei

Autism spectrum disorder, Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNETi1917
MalaCardsiEEF1A2
MIMi616393 phenotype
616409 phenotype
OpenTargetsiENSG00000101210
PharmGKBiPA36219

Chemistry databases

ChEMBLiCHEMBL1795122

Polymorphism and mutation databases

BioMutaiEEF1A2
DMDMi544231

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00000908912 – 463Elongation factor 1-alpha 2Add BLAST462

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N,N,N-trimethylglycineBy similarity1
Modified residuei36N6,N6,N6-trimethyllysine; alternate; by EEF1AKMT41 Publication1
Modified residuei36N6,N6-dimethyllysine; alternate; by EEF1AKMT41 Publication1
Modified residuei36N6-methyllysine; alternate; by EEF1AKMT41 Publication1
Modified residuei55N6,N6,N6-trimethyllysineBy similarity1
Modified residuei79N6,N6,N6-trimethyllysineCombined sources1
Modified residuei165N6,N6,N6-trimethyllysine; alternate; by EEF1AKMT31 Publication1
Modified residuei165N6,N6-dimethyllysine; alternateCombined sources1
Modified residuei165N6-methyllysine; alternateCombined sources1
Modified residuei179N6-acetyllysineCombined sources1
Modified residuei224PhosphoserineBy similarity1
Modified residuei3015-glutamyl glycerylphosphorylethanolamineBy similarity1
Modified residuei3745-glutamyl glycerylphosphorylethanolamineBy similarity1
Modified residuei439N6-acetyllysineCombined sources1

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).2 Publications

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

EPDiQ05639
MaxQBiQ05639
PaxDbiQ05639
PeptideAtlasiQ05639
PRIDEiQ05639
ProteomicsDBi58341
TopDownProteomicsiQ05639

PTM databases

iPTMnetiQ05639
PhosphoSitePlusiQ05639
SwissPalmiQ05639

Expressioni

Tissue specificityi

Brain, heart, and skeletal muscle.

Gene expression databases

BgeeiENSG00000101210
CleanExiHS_EEF1A2
GenevisibleiQ05639 HS

Organism-specific databases

HPAiCAB034019
HPA051759
HPA053862
HPA056990

Interactioni

Subunit structurei

Monomer.By similarity

Binary interactionsi

Show more details

GO - Molecular functioni

  • protein kinase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi108238, 138 interactors
DIPiDIP-40060N
IntActiQ05639, 30 interactors
MINTiQ05639
STRINGi9606.ENSP00000217182

Chemistry databases

BindingDBiQ05639

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3C5JX-ray1.80C343-355[»]
ProteinModelPortaliQ05639
SMRiQ05639
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ05639

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini5 – 242tr-type GAdd BLAST238

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni14 – 21G1By similarity8
Regioni70 – 74G2By similarity5
Regioni91 – 94G3By similarity4
Regioni153 – 156G4By similarity4
Regioni194 – 196G5By similarity3

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG0052 Eukaryota
COG5256 LUCA
GeneTreeiENSGT00910000144046
HOGENOMiHOG000229291
HOVERGENiHBG000179
InParanoidiQ05639
KOiK03231
OMAiEMHHKSV
OrthoDBiEOG091G05LW
PhylomeDBiQ05639
TreeFamiTF300304

Family and domain databases

HAMAPiMF_00118_A EF_Tu_A, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF00009 GTP_EFTU, 1 hit
PF03144 GTP_EFTU_D2, 1 hit
PF03143 GTP_EFTU_D3, 1 hit
PRINTSiPR00315 ELONGATNFCT
SUPFAMiSSF50447 SSF50447, 1 hit
SSF50465 SSF50465, 1 hit
SSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR00483 EF-1_alpha, 1 hit
PROSITEiView protein in PROSITE
PS00301 G_TR_1, 1 hit
PS51722 G_TR_2, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q05639-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:463
Mass (Da):50,470
Last modified:June 1, 1994 - v1
Checksum:i31E4E341CEE797EC
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti427R → P in AAA91835 (PubMed:7945283).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06939570G → S in EIEE33. 2 PublicationsCorresponds to variant dbSNP:rs587777162EnsemblClinVar.1
Natural variantiVAR_07903392A → T Found in a patient with Rett syndrome-like phenotype; unknown pathological significance. 1 Publication1
Natural variantiVAR_073807122E → K in MRD38. 1 PublicationCorresponds to variant dbSNP:rs786205866EnsemblClinVar.1
Natural variantiVAR_073808252D → 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
CCDSiCCDS13522.1
PIRiS35033 EFHUA2
RefSeqiNP_001949.1, NM_001958.3
UniGeneiHs.433839

Genome annotation databases

EnsembliENST00000217182; ENSP00000217182; ENSG00000101210
GeneIDi1917
KEGGihsa:1917
UCSCiuc002yfe.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiEF1A2_HUMAN
AccessioniPrimary (citable) accession number: Q05639
Secondary accession number(s): B5BUF3
, E1P5J1, P54266, Q0VGC7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: June 20, 2018
This is version 196 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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 proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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