UniProt functional annotation for Q9UGM6



	UniProt functional annotation for Q9UGM6

UniProt code: Q9UGM6.

Organism: Homo sapiens (Human).

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

Function: Mitochondrial aminoacyl-tRNA synthetase that activate and transfer the amino acids to their corresponding tRNAs during the translation of mitochondrial genes and protein synthesis. {ECO:0000305|PubMed:28650581}.

Catalytic activity: Reaction=ATP + L-tryptophan + tRNA(Trp) = AMP + diphosphate + H(+) + L- tryptophanyl-tRNA(Trp); Xref=Rhea:RHEA:24080, Rhea:RHEA-COMP:9671, Rhea:RHEA-COMP:9705, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57912, ChEBI:CHEBI:78442, ChEBI:CHEBI:78535, ChEBI:CHEBI:456215; EC=6.1.1.2;

Subcellular location: Mitochondrion matrix {ECO:0000269|PubMed:28236339}.

Tissue specificity: Brain. {ECO:0000269|PubMed:28236339}.

Disease: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [MIM:617710]: An autosomal recessive, mitochondrial disorder with a broad phenotypic spectrum ranging from severe neonatal lactic acidosis, encephalomyopathy and early death to an attenuated course with milder manifestations. Clinical features include delayed psychomotor development, intellectual disability, hypotonia, dystonia, ataxia, and spasticity. Severe combined respiratory chain deficiency may be found in severely affected individuals. {ECO:0000269|PubMed:28236339, ECO:0000269|PubMed:28650581, ECO:0000269|PubMed:28905505}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the class-I aminoacyl-tRNA synthetase family. {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:		Mitochondrial aminoacyl-tRNA synthetase that activate and transfer the amino acids to their corresponding tRNAs during the translation of mitochondrial genes and protein synthesis. {ECO:0000305\|PubMed:28650581}.


Catalytic activity:		Reaction=ATP + L-tryptophan + tRNA(Trp) = AMP + diphosphate + H(+) + L- tryptophanyl-tRNA(Trp); Xref=Rhea:RHEA:24080, Rhea:RHEA-COMP:9671, Rhea:RHEA-COMP:9705, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57912, ChEBI:CHEBI:78442, ChEBI:CHEBI:78535, ChEBI:CHEBI:456215; EC=6.1.1.2;
Subcellular location:		Mitochondrion matrix {ECO:0000269\|PubMed:28236339}.
Tissue specificity:		Brain. {ECO:0000269\|PubMed:28236339}.
Disease:		Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) [MIM:617710]: An autosomal recessive, mitochondrial disorder with a broad phenotypic spectrum ranging from severe neonatal lactic acidosis, encephalomyopathy and early death to an attenuated course with milder manifestations. Clinical features include delayed psychomotor development, intellectual disability, hypotonia, dystonia, ataxia, and spasticity. Severe combined respiratory chain deficiency may be found in severely affected individuals. {ECO:0000269\|PubMed:28236339, ECO:0000269\|PubMed:28650581, ECO:0000269\|PubMed:28905505}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the class-I aminoacyl-tRNA synthetase family. {ECO:0000305}.