EEF1A2
entrez
1917
canonical
uniprot
Q05639
canonical
ensembl
ENSG00000101210
resolver
ensp
ENSP00000217182
resolver
ensp
ENSP00000583998
resolver
ensp
ENSP00000631062
resolver
ensp
ENSP00000631063
resolver
ensp
ENSP00000631064
resolver
ensp
ENSP00000631066
resolver
ensp
ENSP00000631069
resolver
ensp
ENSP00000631070
resolver
ensp
ENSP00000631071
resolver
enst
ENST00000217182
resolver
enst
ENST00000913939
resolver
enst
ENST00000961003
resolver
enst
ENST00000961004
resolver
enst
ENST00000961005
resolver
enst
ENST00000961007
resolver
enst
ENST00000961010
resolver
enst
ENST00000961011
resolver
enst
ENST00000961012
resolver
genesymbol
EEF1A2
resolver
genesymbol_syn
EEF1AL
resolver
genesymbol_syn
STN
resolver
hgnc
HGNC:3192
resolver
uniprot
B5BUF3
resolver
uniprot
E1P5J1
resolver
uniprot
P54266
resolver
uniprot
Q0VGC7
resolver
uniprot_entry
EF1A2_HUMAN
resolver
uniprot_sec
B5BUF3
resolver
uniprot_sec
E1P5J1
resolver
uniprot_sec
P54266
resolver
uniprot_sec
Q0VGC7
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by narciclasine. {ECO:0000269|PubMed:20643906}.
uniprot
proteins
amino_acid_sequence
MGKEKTHINIVVIGHVDSGKSTTTGHLIYKCGGIDKRTIEKFEKEAAEMGKGSFKYAWVLDKLKAERERGITIDISLWKFETTKYYITIIDAPGHRDFIKNMITGTSQADCAVLIVAAGVGEFEAGISKNGQTREHALLAYTLGVKQLIVGVNKMDSTEPAYSEKRYDEIVKEVSAYIKKIGYNPATVPFVPISGWHGDNMLEPSPNMPWFKGWKVERKEGNASGVSLLEALDTILPPTRPTDKPLRLPLQDVYKIGGIGTVPVGRVETGILRPGMVVTFAPVNITTEVKSVEMHHEALSEALPGDNVGFNVKNVSVKDIRRGNVCGDSKSDPPQEAAQFTSQVIILNHPGQISAGYSPVIDCHTAHIACKFAELKEKIDRRSGKKLEDNPKSLKSGDAAIVEMVPGKPMCVESFSQYPPLGRFAVRDMRQTVAVGVIKNVEKKSGGAGKVTKSAQKAQKAGK
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 33 (DEE33) [MIM:616409]: A form of epileptic encephalopathy, a heterogeneous group of severe early-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. {ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:23647072}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Intellectual developmental disorder, autosomal dominant 38 (MRD38) [MIM:616393]: 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. {ECO:0000269|PubMed:24697219}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.5.-
uniprot
proteins
function
FUNCTION: Translation elongation factor that catalyzes the GTP-dependent binding of aminoacyl-tRNA (aa-tRNA) to the A-site of ribosomes during the elongation phase of protein synthesis. Base pairing between the mRNA codon and the aa-tRNA anticodon promotes GTP hydrolysis, releasing the aa-tRNA from EEF1A1 and allowing its accommodation into the ribosome (By similarity). The growing protein chain is subsequently transferred from the P-site peptidyl tRNA to the A-site aa-tRNA, extending it by one amino acid through ribosome-catalyzed peptide bond formation (By similarity). {ECO:0000250|UniProtKB:P68104, ECO:0000250|UniProtKB:Q71V39}.
uniprot
proteins
mass_dalton
50470
uniprot
proteins
mutagenesis
MUTAGEN 36; /note="K->R: Abolishes EEF1AKMT4-mediated methylation."; /evidence="ECO:0000269|PubMed:28520920"; MUTAGEN 165; /note="K->A: Abolishes methylation by EEF1AKMT3."; /evidence="ECO:0000269|PubMed:28108655
uniprot
proteins
post_translational_modification
PTM: 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 METTL13 (PubMed:30143613). Mono- and dimethylated at Lys-55 by METTL13; dimethylated form is predominant (PubMed:30143613, PubMed:30612740). {ECO:0000269|PubMed:28108655, ECO:0000269|PubMed:28520920, ECO:0000269|PubMed:30143613, ECO:0000269|PubMed:30612740}.
uniprot
proteins
protein_family
Classic translation factor GTPase family
uniprot
proteins
protein_family
EF-Tu/EF-1A subfamily
uniprot
proteins
protein_family
TRAFAC class translation factor GTPase superfamily
uniprot
proteins
pubmed
10950927
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18697946
uniprot
proteins
pubmed
19054851
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20643906
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23033978
uniprot
proteins
pubmed
23647072
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24697219
uniprot
proteins
pubmed
26330559
uniprot
proteins
pubmed
26740508
uniprot
proteins
pubmed
28108655
uniprot
proteins
pubmed
28520920
uniprot
proteins
pubmed
30143613
uniprot
proteins
pubmed
30612740
uniprot
proteins
pubmed
36697828
uniprot
proteins
pubmed
7945283
uniprot
proteins
pubmed
8354261
uniprot
proteins
sequence_length
463
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:36697828}.
uniprot
proteins