UniProt functional annotation for Q9UI43



	UniProt functional annotation for Q9UI43

UniProt code: Q9UI43.

Organism: Homo sapiens (Human).

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

Function: S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methyluridine at position 1369 (Um1369) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA. {ECO:0000269|PubMed:25009282, ECO:0000269|PubMed:25074936}.

Catalytic activity: Reaction=S-adenosyl-L-methionine + uridine(1369) in 16S rRNA = 2'-O- methyluridine(1369) in 16S rRNA + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:47764, Rhea:RHEA-COMP:11903, Rhea:RHEA-COMP:11904, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:65315, ChEBI:CHEBI:74478; Evidence={ECO:0000305|PubMed:25074936};

Subcellular location: Mitochondrion {ECO:0000269|PubMed:24036117, ECO:0000269|PubMed:25009282}.

Tissue specificity: Widely expressed, with highest expression in muscle, placenta, and heart. {ECO:0000269|PubMed:11827451}.

Disease: Mitochondrial DNA depletion syndrome 17 (MTDPS17) [MIM:618567]: An autosomal recessive mitochondrial disorder characterized by childhood onset of rapidly progressive encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, multiple defects of oxidative phosphorylation, mitochondrial complex I and IV deficiency, and reduced mtDNA copy number. {ECO:0000269|PubMed:28973171}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA methyltransferase RlmE 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:		S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methyluridine at position 1369 (Um1369) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA. {ECO:0000269\|PubMed:25009282, ECO:0000269\|PubMed:25074936}.


Catalytic activity:		Reaction=S-adenosyl-L-methionine + uridine(1369) in 16S rRNA = 2'-O- methyluridine(1369) in 16S rRNA + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:47764, Rhea:RHEA-COMP:11903, Rhea:RHEA-COMP:11904, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:65315, ChEBI:CHEBI:74478; Evidence={ECO:0000305\|PubMed:25074936};
Subcellular location:		Mitochondrion {ECO:0000269\|PubMed:24036117, ECO:0000269\|PubMed:25009282}.
Tissue specificity:		Widely expressed, with highest expression in muscle, placenta, and heart. {ECO:0000269\|PubMed:11827451}.
Disease:		Mitochondrial DNA depletion syndrome 17 (MTDPS17) [MIM:618567]: An autosomal recessive mitochondrial disorder characterized by childhood onset of rapidly progressive encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, multiple defects of oxidative phosphorylation, mitochondrial complex I and IV deficiency, and reduced mtDNA copy number. {ECO:0000269\|PubMed:28973171}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA methyltransferase RlmE family. {ECO:0000305}.