Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Elongation factor 1-alpha 2

Gene

EEF1A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

HGNCiHGNC:3192. EEF1A2.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytoplasmic side of lysosomal membrane Source: ParkinsonsUK-UCL
  • eukaryotic translation elongation factor 1 complex Source: Ensembl
  • myelin sheath Source: Ensembl
  • neuronal cell body Source: Ensembl

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:rs587777162Ensembl.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:rs786205866Ensembl.1
Natural variantiVAR_073808252D → H in MRD38. 1 PublicationCorresponds to variant dbSNP:rs786205865Ensembl.1

Mutagenesis

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

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N,N,N-trimethylglycineBy similarity1
Modified residuei55N6,N6,N6-trimethyllysine; alternateBy similarity1
Modified residuei55N6,N6-dimethyllysine; alternateBy similarity1
Modified residuei79N6,N6,N6-trimethyllysineCombined sources1
Modified residuei165N6,N6,N6-trimethyllysine; alternate; by EEF1AKMT31 Publication1
Modified residuei165N6,N6-dimethyllysine; alternateCombined sources1
Modified residuei165N6-acetyllysine; alternateBy similarity1
Modified residuei165N6-methyllysine; alternateCombined sources1
Modified residuei172N6-acetyllysineBy similarity1
Modified residuei179N6-acetyllysineCombined sources1
Modified residuei224PhosphoserineBy similarity1
Modified residuei3015-glutamyl glycerylphosphorylethanolamineBy similarity1
Modified residuei3745-glutamyl glycerylphosphorylethanolamineBy similarity1
Modified residuei392N6-acetyllysine; alternateBy similarity1
Modified residuei392N6-succinyllysine; alternateBy similarity1
Modified residuei439N6-acetyllysineCombined sources1

Post-translational modificationi

Trimethylated at Lys-165 by EEF1AKMT3.1 Publication

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

EPDiQ05639.
MaxQBiQ05639.
PaxDbiQ05639.
PeptideAtlasiQ05639.
PRIDEiQ05639.
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. 136 interactors.
DIPiDIP-40060N.
IntActiQ05639. 29 interactors.
MINTiMINT-1141378.
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.
GeneTreeiENSGT00670000097815.
HOGENOMiHOG000229291.
HOVERGENiHBG000179.
InParanoidiQ05639.
KOiK03231.
OMAiASEKMPW.
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.
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:rs587777162Ensembl.1
Natural variantiVAR_073807122E → K in MRD38. 1 PublicationCorresponds to variant dbSNP:rs786205866Ensembl.1
Natural variantiVAR_073808252D → H in MRD38. 1 PublicationCorresponds to variant dbSNP:rs786205865Ensembl.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.
ENST00000298049; ENSP00000298049; 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: August 30, 2017
This is version 188 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