UniProt functional annotation for Q05639



	UniProt functional annotation for Q05639

UniProt code: Q05639.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

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

Subunit: Monomer. {ECO:0000250}.

Subcellular location: Nucleus {ECO:0000250}.

Tissue specificity: Brain, heart, and skeletal muscle.

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 EEF1AKNMT (PubMed:30143613). Mono- and dimethylated at Lys-55 by EEF1AKNMT; dimethylated form is predominant (PubMed:30143613, PubMed:30612740). {ECO:0000269|PubMed:28108655, ECO:0000269|PubMed:28520920, ECO:0000269|PubMed:30143613, ECO:0000269|PubMed:30612740}.

Disease: Developmental and epileptic encephalopathy 33 (DEE33) [MIM:616409]: A 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. {ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:23647072}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Mental retardation, autosomal dominant 38 (MRD38) [MIM:616393]: A 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. {ECO:0000269|PubMed:24697219}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



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


Subunit:		Monomer. {ECO:0000250}.
Subcellular location:		Nucleus {ECO:0000250}.
Tissue specificity:		Brain, heart, and skeletal muscle.
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 EEF1AKNMT (PubMed:30143613). Mono- and dimethylated at Lys-55 by EEF1AKNMT; dimethylated form is predominant (PubMed:30143613, PubMed:30612740). {ECO:0000269\|PubMed:28108655, ECO:0000269\|PubMed:28520920, ECO:0000269\|PubMed:30143613, ECO:0000269\|PubMed:30612740}.
Disease:		Developmental and epileptic encephalopathy 33 (DEE33) [MIM:616409]: A 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. {ECO:0000269\|PubMed:23033978, ECO:0000269\|PubMed:23647072}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Mental retardation, autosomal dominant 38 (MRD38) [MIM:616393]: A 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. {ECO:0000269\|PubMed:24697219}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily. {ECO:0000305}.