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UniProtKB - Q9UI43 (MRM2_HUMAN)
Protein
rRNA methyltransferase 2, mitochondrial
Gene
MRM2
Organism
Homo sapiens (Human)
Status
Functioni
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.
2 PublicationsCatalytic activityi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 112 | S-adenosyl-L-methionine1 Publication | 1 | |
Binding sitei | 154 | S-adenosyl-L-methionine1 Publication | 1 | |
Active sitei | 194 | Proton acceptorBy similarity | 1 |
GO - Molecular functioni
- RNA methyltransferase activity Source: GO_Central
- rRNA (uridine-2'-O-)-methyltransferase activity Source: Reactome
GO - Biological processi
- RNA methylation Source: GO_Central
- rRNA 2'-O-methylation Source: Reactome
- rRNA methylation Source: BHF-UCL
- rRNA processing Source: BHF-UCL
Keywordsi
Molecular function | Methyltransferase, Transferase |
Biological process | rRNA processing |
Ligand | S-adenosyl-L-methionine |
Enzyme and pathway databases
BRENDAi | 2.1.1.166, 2681 2.1.1.B123, 2681 |
PathwayCommonsi | Q9UI43 |
Reactomei | R-HSA-6793080, rRNA modification in the mitochondrion |
SignaLinki | Q9UI43 |
Names & Taxonomyi
Protein namesi | Recommended name: rRNA methyltransferase 2, mitochondrial1 Publication (EC:2.1.1.-1 Publication)Alternative name(s): 16S rRNA (uridine(1369)-2'-O)-methyltransferase1 Publication 16S rRNA [Um1369] 2'-O-methyltransferase1 Publication Protein ftsJ homolog 21 Publication |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:16352, MRM2 |
MIMi | 606906, gene |
neXtProti | NX_Q9UI43 |
VEuPathDBi | HostDB:ENSG00000122687 |
Subcellular locationi
Mitochondrion
- Mitochondrion 2 Publications
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrion Source: BHF-UCL
Nucleus
- nucleolus Source: UniProtKB
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
Mitochondrial DNA depletion syndrome 17 (MTDPS17)1 Publication
The disease may be caused by variants affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083280 | 189 | G → R in MTDPS17. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 29960 |
MalaCardsi | MRM2 |
MIMi | 618567, phenotype |
OpenTargetsi | ENSG00000122687 |
PharmGKBi | PA28418 |
Miscellaneous databases
Pharosi | Q9UI43, Tbio |
Genetic variation databases
BioMutai | MRM2 |
DMDMi | 9910866 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 18 | MitochondrionSequence analysisAdd BLAST | 18 | |
ChainiPRO_0000155576 | 19 – 246 | rRNA methyltransferase 2, mitochondrialAdd BLAST | 228 |
Proteomic databases
EPDi | Q9UI43 |
jPOSTi | Q9UI43 |
MassIVEi | Q9UI43 |
PaxDbi | Q9UI43 |
PeptideAtlasi | Q9UI43 |
PRIDEi | Q9UI43 |
ProteomicsDBi | 84473 |
PTM databases
iPTMneti | Q9UI43 |
PhosphoSitePlusi | Q9UI43 |
Expressioni
Tissue specificityi
Widely expressed, with highest expression in muscle, placenta, and heart.1 Publication
Gene expression databases
Bgeei | ENSG00000122687, Expressed in prostate gland and 244 other tissues |
ExpressionAtlasi | Q9UI43, baseline and differential |
Genevisiblei | Q9UI43, HS |
Organism-specific databases
HPAi | ENSG00000122687, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 118996, 90 interactors |
IntActi | Q9UI43, 10 interactors |
STRINGi | 9606.ENSP00000242257 |
Miscellaneous databases
RNActi | Q9UI43, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
AlphaFoldDBi | Q9UI43 |
SMRi | Q9UI43 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9UI43 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 83 – 86 | S-adenosyl-L-methionine binding1 Publication | 4 | |
Regioni | 129 – 130 | S-adenosyl-L-methionine binding1 Publication | 2 |
Sequence similaritiesi
Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA methyltransferase RlmE family.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG4589, Eukaryota |
GeneTreei | ENSGT00730000111241 |
HOGENOMi | CLU_009422_4_2_1 |
InParanoidi | Q9UI43 |
OMAi | HRQTDHL |
OrthoDBi | 1039414at2759 |
PhylomeDBi | Q9UI43 |
TreeFami | TF316701 |
Family and domain databases
Gene3Di | 3.40.50.150, 1 hit |
HAMAPi | MF_01547, RNA_methyltr_E, 1 hit |
InterProi | View protein in InterPro IPR015507, rRNA-MeTfrase_E IPR002877, rRNA_MeTrfase_FtsJ_dom IPR029063, SAM-dependent_MTases |
Pfami | View protein in Pfam PF01728, FtsJ, 1 hit |
PIRSFi | PIRSF005461, 23S_rRNA_mtase, 1 hit |
SUPFAMi | SSF53335, SSF53335, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q9UI43-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAGYLKLVCV SFQRQGFHTV GSRCKNRTGA EHLWLTRHLR DPFVKAAKVE
60 70 80 90 100
SYRCRSAFKL LEVNERHQIL RPGLRVLDCG AAPGAWSQVA VQKVNAAGTD
110 120 130 140 150
PSSPVGFVLG VDLLHIFPLE GATFLCPADV TDPRTSQRIL EVLPGRRADV
160 170 180 190 200
ILSDMAPNAT GFRDLDHDRL ISLCLTLLSV TPDILQPGGT FLCKTWAGSQ
210 220 230 240
SRRLQRRLTE EFQNVRIIKP EASRKESSEV YFLATQYHGR KGTVKQ
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A3B3ITW8 | A0A3B3ITW8_HUMAN | rRNA methyltransferase 2, mitochond... | MRM2 | 155 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 73 | G → S in AAI14515 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083280 | 189 | G → R in MTDPS17. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF093415 mRNA Translation: AAF22488.1 BC114514 mRNA Translation: AAI14515.1 |
CCDSi | CCDS5328.1 |
RefSeqi | NP_037525.1, NM_013393.1 |
Genome annotation databases
Ensembli | ENST00000242257.14; ENSP00000242257.8; ENSG00000122687.19 ENST00000440306.3; ENSP00000392343.3; ENSG00000122687.19 |
GeneIDi | 29960 |
KEGGi | hsa:29960 |
MANE-Selecti | ENST00000242257.14; ENSP00000242257.8; NM_013393.3; NP_037525.1 |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF093415 mRNA Translation: AAF22488.1 BC114514 mRNA Translation: AAI14515.1 |
CCDSi | CCDS5328.1 |
RefSeqi | NP_037525.1, NM_013393.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2NYU | X-ray | 1.76 | A/B | 51-246 | [»] | |
7O9K | electron microscopy | 3.10 | n | 1-246 | [»] | |
7O9M | electron microscopy | 2.50 | n | 1-246 | [»] | |
7ODS | electron microscopy | 3.10 | z | 1-246 | [»] | |
AlphaFoldDBi | Q9UI43 | |||||
SMRi | Q9UI43 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 118996, 90 interactors |
IntActi | Q9UI43, 10 interactors |
STRINGi | 9606.ENSP00000242257 |
PTM databases
iPTMneti | Q9UI43 |
PhosphoSitePlusi | Q9UI43 |
Genetic variation databases
BioMutai | MRM2 |
DMDMi | 9910866 |
Proteomic databases
EPDi | Q9UI43 |
jPOSTi | Q9UI43 |
MassIVEi | Q9UI43 |
PaxDbi | Q9UI43 |
PeptideAtlasi | Q9UI43 |
PRIDEi | Q9UI43 |
ProteomicsDBi | 84473 |
Protocols and materials databases
Antibodypediai | 24314, 66 antibodies from 16 providers |
DNASUi | 29960 |
Genome annotation databases
Ensembli | ENST00000242257.14; ENSP00000242257.8; ENSG00000122687.19 ENST00000440306.3; ENSP00000392343.3; ENSG00000122687.19 |
GeneIDi | 29960 |
KEGGi | hsa:29960 |
MANE-Selecti | ENST00000242257.14; ENSP00000242257.8; NM_013393.3; NP_037525.1 |
Organism-specific databases
CTDi | 29960 |
DisGeNETi | 29960 |
GeneCardsi | MRM2 |
HGNCi | HGNC:16352, MRM2 |
HPAi | ENSG00000122687, Low tissue specificity |
MalaCardsi | MRM2 |
MIMi | 606906, gene 618567, phenotype |
neXtProti | NX_Q9UI43 |
OpenTargetsi | ENSG00000122687 |
PharmGKBi | PA28418 |
VEuPathDBi | HostDB:ENSG00000122687 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4589, Eukaryota |
GeneTreei | ENSGT00730000111241 |
HOGENOMi | CLU_009422_4_2_1 |
InParanoidi | Q9UI43 |
OMAi | HRQTDHL |
OrthoDBi | 1039414at2759 |
PhylomeDBi | Q9UI43 |
TreeFami | TF316701 |
Enzyme and pathway databases
BRENDAi | 2.1.1.166, 2681 2.1.1.B123, 2681 |
PathwayCommonsi | Q9UI43 |
Reactomei | R-HSA-6793080, rRNA modification in the mitochondrion |
SignaLinki | Q9UI43 |
Miscellaneous databases
BioGRID-ORCSi | 29960, 191 hits in 1086 CRISPR screens |
ChiTaRSi | MRM2, human |
EvolutionaryTracei | Q9UI43 |
GenomeRNAii | 29960 |
Pharosi | Q9UI43, Tbio |
PROi | PR:Q9UI43 |
RNActi | Q9UI43, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000122687, Expressed in prostate gland and 244 other tissues |
ExpressionAtlasi | Q9UI43, baseline and differential |
Genevisiblei | Q9UI43, HS |
Family and domain databases
Gene3Di | 3.40.50.150, 1 hit |
HAMAPi | MF_01547, RNA_methyltr_E, 1 hit |
InterProi | View protein in InterPro IPR015507, rRNA-MeTfrase_E IPR002877, rRNA_MeTrfase_FtsJ_dom IPR029063, SAM-dependent_MTases |
Pfami | View protein in Pfam PF01728, FtsJ, 1 hit |
PIRSFi | PIRSF005461, 23S_rRNA_mtase, 1 hit |
SUPFAMi | SSF53335, SSF53335, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | MRM2_HUMAN | |
Accessioni | Q9UI43Primary (citable) accession number: Q9UI43 Secondary accession number(s): Q24JR8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 1, 2000 |
Last sequence update: | May 1, 2000 | |
Last modified: | May 25, 2022 | |
This is version 157 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families