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Information on EC 2.1.1.B123 - 16S rRNA (uridine1369-2'-O)-methyltransferase and Organism(s) Homo sapiens and UniProt Accession Q9UI43

for references in articles please use BRENDA:EC2.1.1.B123
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Homo sapiens
UNIPROT: Q9UI43 not found.
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The taxonomic range for the selected organisms is: Homo sapiens
The expected taxonomic range for this enzyme is: Homo sapiens
Reaction Schemes
Synonyms
rrmj2, more
SYNONYM
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
SYSTEMATIC NAME
IUBMB Comments
S-adenosyl-L-methionine:16S rRNA (uridine1369-2'-O-)-methyltransferase
-
SUBSTRATE
PRODUCT                       
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
Reversibility
r=reversible
ir=irreversible
?=not specified
S-adenosyl-L-methionine + uridine1369 in 16S rRNA
S-adenosyl-L-homocysteine + 2'-O-methyluridine1369 in 16S rRNA
show the reaction diagram
-
-
-
?
NATURAL SUBSTRATE
NATURAL PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
REVERSIBILITY
r=reversible
ir=irreversible
?=not specified
S-adenosyl-L-methionine + uridine1369 in 16S rRNA
S-adenosyl-L-homocysteine + 2'-O-methyluridine1369 in 16S rRNA
show the reaction diagram
-
-
-
?
ORGANISM
COMMENTARY hide
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
-
UniProt
Manually annotated by BRENDA team
SOURCE TISSUE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
SOURCE
LOCALIZATION
ORGANISM
UNIPROT
COMMENTARY hide
GeneOntology No.
LITERATURE
SOURCE
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
physiological function
UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION?
MRM2_HUMAN
246
0
27424
Swiss-Prot
-
PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
G189R
mutation identified in a 7-year-old boy with childhood-onset rapidly progressive encephalomyopathy and stroke-like episodes
CLONED (Commentary)
ORGANISM
UNIPROT
LITERATURE
expression in HeLa cell
APPLICATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
medicine
mutation G189R identified in a 7-year-old boy with childhood-onset rapidly progressive encephalomyopathy and stroke-like episodes. Multiple OXPHOS defects and decreased mtDNA copy number (40%) are detected in muscle homogenate. Symptoms are similar to mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome. A yeast MRM2 knockout mutant shows a defect in respiration and the reduction of the 2'-O-methylmodification at position U2791 in the yeast mitochondrial 21S rRNA. Complementation of the yeast knockout mutant with the human mutant Mrm2 fails to rescue the respiratory phenotype, which is instead completely rescued by expressing the wild-type allele
REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Garone, C.; DSouza, A.R.; Dallabona, C.; Lodi, T.; Rebelo-Guiomar, P.; Rorbach, J.; Donati, M.A.; Procopio, E.; Montomoli, M.; Guerrini, R.; Zeviani, M.; Calvo, S.E.; Mootha, V.K.; DiMauro, S.; Ferrero, I.; Minczuk, M.
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
Hum. Mol. Genet.
26
4257-4266
2017
Homo sapiens (Q9UI43)
Manually annotated by BRENDA team
Lee, K.W.; Bogenhagen, D.F.
Assignment of 2'-O-methyltransferases to modification sites on the mammalian mitochondrial large subunit 16 S ribosomal RNA (rRNA)
J. Biol. Chem.
289
24936-24942
2014
Homo sapiens (Q9UI43)
Manually annotated by BRENDA team
Rorbach, J.; Boesch, P.; Gammage, P.A.; Nicholls, T.J.J.; Pearce, S.F.; Patel, D.; Hauser, A.; Perocchi, F.; Minczuk, M.
MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome
Mol. Biol. Cell
25
2542-2555 /
2014
Homo sapiens (Q9UI43), Homo sapiens
Manually annotated by BRENDA team