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Protein

Mitochondrial tRNA-specific 2-thiouridylase 1

Gene

TRMU

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). Required for the formation of 5-taurinomethyl-2-thiouridine (tm5s2U) of mitochondrial tRNA(Lys), tRNA(Glu), and tRNA(Gln) at the wobble position. ATP is required to activate the C2 atom of the wobble base.3 Publications

Miscellaneous

During the reaction, ATP is used to activate the C2 atom of U34 by adenylation. After this, the persulfide sulfur on the catalytic cysteine is transferred to the C2 atom of the wobble base (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). The reaction probably involves hydrogen sulfide that is generated from the persulfide intermediate and that acts as nucleophile towards the activated C2 atom on U34. Subsequently, a transient disulfide bond is formed between the two active site cysteine residues (By similarity).By similarity

Caution

Was originally thought to be a 5-methylaminomethyl-2-methyltransferase involved in tRNA modification.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei36ATP; via amide nitrogen and carbonyl oxygenBy similarity1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei101NucleophileBy similarity1
Binding sitei126ATP; via amide nitrogenBy similarity1
Active sitei222Cysteine persulfide intermediateBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi10 – 17ATPBy similarity8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

  • tRNA wobble position uridine thiolation Source: GO_Central

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionRNA-binding, Transferase, tRNA-binding
Biological processtRNA processing
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:ENSG00000100416-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
2.1.1.61 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6787450 tRNA modification in the mitochondrion

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Mitochondrial tRNA-specific 2-thiouridylase 1 (EC:2.8.1.14By similarity)
Alternative name(s):
MTO2 homolog
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TRMU
Synonyms:MTU1, TRMT1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000100416.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25481 TRMU

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
610230 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O75648

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Deafness, aminoglycoside-induced (DFNI)1 Publication
The gene represented in this entry acts as a disease modifier. DFNI is caused by mutations in mitochondrial rRNA genes, including homoplasmic A1555G and C1494T mutations in the highly conserved decoding site of the mitochondrial 12S rRNA. Mutated TRMU modulates the phenotypic manifestation of these mutations.1 Publication
Disease descriptionA form of sensorineural deafness characterized by moderate-to-profound hearing loss and mitochondrial inheritance. It is induced by exposure to aminoglycosides.
See also OMIM:580000
Liver failure, infantile, transient (LFIT)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA transient disorder of hepatic function characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, increased serum lactate. Patients who survive the initial acute episode can recover, show normal development and have no recurrence.
See also OMIM:613070
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06342977Y → H in LFIT. 1 PublicationCorresponds to variant dbSNP:rs118203990EnsemblClinVar.1
Natural variantiVAR_063430272G → D in LFIT. 1 PublicationCorresponds to variant dbSNP:rs118203991EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi16D → A: Loss of activity. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...
DisGeNETi
55687

MalaCards human disease database

More...
MalaCardsi
TRMU
MIMi580000 phenotype
613070 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000100416

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
90641 Mitochondrial non-syndromic sensorineural deafness
168609 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142670701

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TRMU

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001217081 – 421Mitochondrial tRNA-specific 2-thiouridylase 1Add BLAST421

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi101 ↔ 222By similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O75648

MaxQB - The MaxQuant DataBase

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MaxQBi
O75648

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O75648

PeptideAtlas

More...
PeptideAtlasi
O75648

PRoteomics IDEntifications database

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PRIDEi
O75648

ProteomicsDB human proteome resource

More...
ProteomicsDBi
50138
50139 [O75648-2]
50140 [O75648-3]
50141 [O75648-4]
50142 [O75648-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O75648

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O75648

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous. Abundantly expressed in tissues with high metabolic rates including heart, liver, kidney, and brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000100416 Expressed in 211 organ(s), highest expression level in adenohypophysis

CleanEx database of gene expression profiles

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CleanExi
HS_TRMT1
HS_TRMU

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O75648 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O75648 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA000824
HPA035273
HPA043300

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei127Interaction with tRNABy similarity1
Sitei267Interaction with tRNABy similarity1
Sitei367Interaction with tRNABy similarity1

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120814, 16 interactors

Protein interaction database and analysis system

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IntActi
O75648, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000290846

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O75648

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni96 – 98Interaction with target base in tRNABy similarity3
Regioni171 – 173Interaction with tRNABy similarity3
Regioni334 – 335Interaction with tRNABy similarity2

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the MnmA/TRMU family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2805 Eukaryota
COG0482 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000014323

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG108157

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O75648

KEGG Orthology (KO)

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KOi
K21027

Identification of Orthologs from Complete Genome Data

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OMAi
AVCTGHY

Database of Orthologous Groups

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OrthoDBi
EOG091G0BKX

Database for complete collections of gene phylogenies

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PhylomeDBi
O75648

TreeFam database of animal gene trees

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TreeFami
TF105611

Family and domain databases

Conserved Domains Database

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CDDi
cd01998 tRNA_Me_trans, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.30.30.280, 1 hit
3.40.50.620, 1 hit

HAMAP database of protein families

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HAMAPi
MF_00144 tRNA_thiouridyl_MnmA, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR023382 Adenine_a_hdrlase_dom
IPR014729 Rossmann-like_a/b/a_fold
IPR004506 tRNA-specific_2-thiouridylase

The PANTHER Classification System

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PANTHERi
PTHR11933 PTHR11933, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR00420 trmU, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O75648-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MQALRHVVCA LSGGVDSAVA ALLLRRRGYQ VTGVFMKNWD SLDEHGVCTA
60 70 80 90 100
DKDCEDAYRV CQILDIPFHQ VSYVKEYWND VFSDFLNEYE KGRTPNPDIV
110 120 130 140 150
CNKHIKFSCF FHYAVDNLGA DAIATGHYAR TSLEDEEVFE QKHVKKPEGL
160 170 180 190 200
FRNRFEVRNA VKLLQAADSF KDQTFFLSQV SQDALRRTIF PLGGLTKEFV
210 220 230 240 250
KKIAAENRLH HVLQKKESMG MCFIGKRNFE HFLLQYLQPR PGHFISIEDN
260 270 280 290 300
KVLGTHKGWF LYTLGQRANI GGLREPWYVV EKDSVKGDVF VAPRTDHPAL
310 320 330 340 350
YRDLLRTSRV HWIAEEPPAA LVRDKMMECH FRFRHQMALV PCVLTLNQDG
360 370 380 390 400
TVWVTAVQAV RALATGQFAV FYKGDECLGS GKILRLGPSA YTLQKGQRRA
410 420
GMATESPSDS PEDGPGLSPL L
Length:421
Mass (Da):47,745
Last modified:May 1, 1999 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF06A57DED79BBE84
GO
Isoform 2 (identifier: O75648-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     341-421: PCVLTLNQDG...EDGPGLSPLL → CCVLQGGRVP...EGPAQSWDGH

Show »
Length:376
Mass (Da):42,950
Checksum:iCDD44D61E0426DFD
GO
Isoform 3 (identifier: O75648-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-154: Missing.
     155-179: FEVRNAVKLLQAADSFKDQTFFLSQ → MKKSLSRSTLRSPKGFSEIGLKLEM
     341-421: PCVLTLNQDG...EDGPGLSPLL → CCVLQGGRVP...EGPAQSWDGH

Show »
Length:222
Mass (Da):25,237
Checksum:i9EFE17BA0DD15B9C
GO
Isoform 4 (identifier: O75648-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-154: Missing.
     155-179: FEVRNAVKLLQAADSFKDQTFFLSQ → MKKSLSRSTLRSPKGFSEIGLKLEM

Show »
Length:267
Mass (Da):30,032
Checksum:i02B847B0EE43234A
GO
Isoform 5 (identifier: O75648-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     161-166: VKLLQA → RFPRMP
     167-421: Missing.

Show »
Length:166
Mass (Da):19,154
Checksum:i2591018317F58C96
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q2PPL5Q2PPL5_HUMAN
Mitochondrial 5-methylaminomethyl-2...
TRMU
99Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B4DZN5B4DZN5_HUMAN
Mitochondrial tRNA-specific 2-thiou...
TRMU
131Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y6L6A0A2R8Y6L6_HUMAN
Mitochondrial tRNA-specific 2-thiou...
TRMU
341Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YFQ3A0A2R8YFQ3_HUMAN
Mitochondrial tRNA-specific 2-thiou...
TRMU
207Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y4R7A0A2R8Y4R7_HUMAN
Mitochondrial tRNA-specific 2-thiou...
TRMU
331Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YDK3A0A2R8YDK3_HUMAN
Mitochondrial tRNA-specific 2-thiou...
TRMU
102Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti139F → L in BAA91462 (PubMed:14702039).Curated1
Isoform 3 (identifier: O75648-3)
Sequence conflicti14K → N in AAH80631 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02726810A → S Polymorphism; acts as a disease modifier in patients with aminoglycoside-induced deafness and a mutation in mitochondrial 12S rRNA; affects tRNA processing by decreasing thiolation and increasing aminoacylation of tRNAs; the mutant has lower thermal stability than wild-type; does not affect import in the mitochondria. 3 PublicationsCorresponds to variant dbSNP:rs11090865EnsemblClinVar.1
Natural variantiVAR_06342814G → S1 PublicationCorresponds to variant dbSNP:rs751248771EnsemblClinVar.1
Natural variantiVAR_04638025R → S. Corresponds to variant dbSNP:rs2272938EnsemblClinVar.1
Natural variantiVAR_06342977Y → H in LFIT. 1 PublicationCorresponds to variant dbSNP:rs118203990EnsemblClinVar.1
Natural variantiVAR_046381148E → K. Corresponds to variant dbSNP:rs34012206EnsemblClinVar.1
Natural variantiVAR_063430272G → D in LFIT. 1 PublicationCorresponds to variant dbSNP:rs118203991EnsemblClinVar.1
Natural variantiVAR_063431279V → M1 PublicationCorresponds to variant dbSNP:rs387907022EnsemblClinVar.1
Natural variantiVAR_046382398R → C. Corresponds to variant dbSNP:rs34152016EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0353911 – 154Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST154
Alternative sequenceiVSP_035392155 – 179FEVRN…FFLSQ → MKKSLSRSTLRSPKGFSEIG LKLEM in isoform 3 and isoform 4. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_035393161 – 166VKLLQA → RFPRMP in isoform 5. 1 Publication6
Alternative sequenceiVSP_035394167 – 421Missing in isoform 5. 1 PublicationAdd BLAST255
Alternative sequenceiVSP_035395341 – 421PCVLT…LSPLL → CCVLQGGRVPGQREDPAAGA VCLHAPEGPAQSWDGH in isoform 2 and isoform 3. 2 PublicationsAdd BLAST81

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AY062123 mRNA Translation: AAL38183.1
AF448221 Genomic DNA Translation: AAL35970.1
AB178028 mRNA Translation: BAD66875.1
CR456445 mRNA Translation: CAG30331.1
AK001002 mRNA Translation: BAA91462.1
AK290712 mRNA Translation: BAF83401.1
AL031588 Genomic DNA No translation available.
CH471138 Genomic DNA Translation: EAW73422.1
CH471138 Genomic DNA Translation: EAW73426.1
BC027991 mRNA Translation: AAH27991.1
BC080631 mRNA Translation: AAH80631.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS14075.1 [O75648-1]
CCDS63510.1 [O75648-2]

NCBI Reference Sequences

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RefSeqi
NP_001269712.1, NM_001282783.1
NP_001269713.1, NM_001282784.1
NP_001269714.1, NM_001282785.1 [O75648-2]
NP_060476.2, NM_018006.4 [O75648-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.439524

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000290846; ENSP00000290846; ENSG00000100416 [O75648-1]
ENST00000381019; ENSP00000370407; ENSG00000100416 [O75648-2]
ENST00000457572; ENSP00000407700; ENSG00000100416 [O75648-5]
ENST00000645190; ENSP00000496496; ENSG00000100416 [O75648-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
55687

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55687

UCSC genome browser

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UCSCi
uc003bhp.4 human [O75648-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY062123 mRNA Translation: AAL38183.1
AF448221 Genomic DNA Translation: AAL35970.1
AB178028 mRNA Translation: BAD66875.1
CR456445 mRNA Translation: CAG30331.1
AK001002 mRNA Translation: BAA91462.1
AK290712 mRNA Translation: BAF83401.1
AL031588 Genomic DNA No translation available.
CH471138 Genomic DNA Translation: EAW73422.1
CH471138 Genomic DNA Translation: EAW73426.1
BC027991 mRNA Translation: AAH27991.1
BC080631 mRNA Translation: AAH80631.1
CCDSiCCDS14075.1 [O75648-1]
CCDS63510.1 [O75648-2]
RefSeqiNP_001269712.1, NM_001282783.1
NP_001269713.1, NM_001282784.1
NP_001269714.1, NM_001282785.1 [O75648-2]
NP_060476.2, NM_018006.4 [O75648-1]
UniGeneiHs.439524

3D structure databases

ProteinModelPortaliO75648
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120814, 16 interactors
IntActiO75648, 2 interactors
STRINGi9606.ENSP00000290846

PTM databases

iPTMnetiO75648
PhosphoSitePlusiO75648

Polymorphism and mutation databases

BioMutaiTRMU

Proteomic databases

EPDiO75648
MaxQBiO75648
PaxDbiO75648
PeptideAtlasiO75648
PRIDEiO75648
ProteomicsDBi50138
50139 [O75648-2]
50140 [O75648-3]
50141 [O75648-4]
50142 [O75648-5]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
55687
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000290846; ENSP00000290846; ENSG00000100416 [O75648-1]
ENST00000381019; ENSP00000370407; ENSG00000100416 [O75648-2]
ENST00000457572; ENSP00000407700; ENSG00000100416 [O75648-5]
ENST00000645190; ENSP00000496496; ENSG00000100416 [O75648-1]
GeneIDi55687
KEGGihsa:55687
UCSCiuc003bhp.4 human [O75648-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
55687
DisGeNETi55687
EuPathDBiHostDB:ENSG00000100416.12

GeneCards: human genes, protein and diseases

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GeneCardsi
TRMU
HGNCiHGNC:25481 TRMU
HPAiHPA000824
HPA035273
HPA043300
MalaCardsiTRMU
MIMi580000 phenotype
610230 gene
613070 phenotype
neXtProtiNX_O75648
OpenTargetsiENSG00000100416
Orphaneti217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
90641 Mitochondrial non-syndromic sensorineural deafness
168609 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
PharmGKBiPA142670701

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2805 Eukaryota
COG0482 LUCA
GeneTreeiENSGT00390000014323
HOVERGENiHBG108157
InParanoidiO75648
KOiK21027
OMAiAVCTGHY
OrthoDBiEOG091G0BKX
PhylomeDBiO75648
TreeFamiTF105611

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000100416-MONOMER
BRENDAi2.1.1.61 2681
ReactomeiR-HSA-6787450 tRNA modification in the mitochondrion

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
TRMU human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
TRMU

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
55687

Protein Ontology

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PROi
PR:O75648

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000100416 Expressed in 211 organ(s), highest expression level in adenohypophysis
CleanExiHS_TRMT1
HS_TRMU
ExpressionAtlasiO75648 baseline and differential
GenevisibleiO75648 HS

Family and domain databases

CDDicd01998 tRNA_Me_trans, 1 hit
Gene3Di2.30.30.280, 1 hit
3.40.50.620, 1 hit
HAMAPiMF_00144 tRNA_thiouridyl_MnmA, 1 hit
InterProiView protein in InterPro
IPR023382 Adenine_a_hdrlase_dom
IPR014729 Rossmann-like_a/b/a_fold
IPR004506 tRNA-specific_2-thiouridylase
PANTHERiPTHR11933 PTHR11933, 1 hit
TIGRFAMsiTIGR00420 trmU, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMTU1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O75648
Secondary accession number(s): A8K3U7
, Q05C99, Q5W9C8, Q66K31, Q6ICC3, Q9NWC1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 1, 1999
Last modified: December 5, 2018
This is version 141 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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