TRMU
entrez
55687
canonical
uniprot
O75648
canonical
ensembl
ENSG00000100416
resolver
ensp
ENSP00000370407
resolver
ensp
ENSP00000370409
resolver
ensp
ENSP00000393014
resolver
ensp
ENSP00000398488
resolver
ensp
ENSP00000413880
resolver
ensp
ENSP00000496496
resolver
ensp
ENSP00000671357
resolver
ensp
ENSP00000725793
resolver
enst
ENST00000381021
resolver
enst
ENST00000441818
resolver
enst
ENST00000453630
resolver
enst
ENST00000456595
resolver
genesymbol
TRMU
resolver
genesymbol_syn
MTU1
resolver
genesymbol_syn
TRMT1
resolver
hgnc
HGNC:25481
resolver
uniprot
A8K3U7
resolver
uniprot
F6YC74
resolver
uniprot
Q05C99
resolver
uniprot
Q2PPL4
resolver
uniprot
Q2PPL5
resolver
uniprot
Q5W9C8
resolver
uniprot
Q66K31
resolver
uniprot
Q6ICC3
resolver
uniprot
Q9NWC1
resolver
uniprot_entry
F6YC74_HUMAN
resolver
uniprot_entry
MTU1_HUMAN
resolver
uniprot_entry
Q2PPL4_HUMAN
resolver
uniprot_entry
Q2PPL5_HUMAN
resolver
uniprot_sec
A8K3U7
resolver
uniprot_sec
Q05C99
resolver
uniprot_sec
Q5W9C8
resolver
uniprot_sec
Q66K31
resolver
uniprot_sec
Q6ICC3
resolver
uniprot_sec
Q9NWC1
resolver
amino_acid_sequence
MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWNDVFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNAVKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVPCVLTLNQDGTVWVTAVQAVRALATGQFAVFYKGDECLGSGKILRLGPSAYTLQKGQRRAGMATESPSDSPEDGPGLSPLL
uniprot
proteins
disease_involvement
DISEASE: Deafness, aminoglycoside-induced (DFNI) [MIM:580000]: A form of sensorineural deafness characterized by moderate-to-profound hearing loss and mitochondrial inheritance. It is induced by exposure to aminoglycosides. {ECO:0000269|PubMed:16826519}. Note=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. {ECO:0000269|PubMed:16826519}.; DISEASE: Liver failure, infantile, transient (LFIT) [MIM:613070]: A 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. {ECO:0000269|PubMed:19732863}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.8.1.14
uniprot
proteins
function
FUNCTION: 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. {ECO:0000269|PubMed:15509579, ECO:0000269|PubMed:15944150, ECO:0000269|PubMed:16826519}.
uniprot
proteins
mass_dalton
47745
uniprot
proteins
mutagenesis
MUTAGEN 16; /note="D->A: Loss of activity."; /evidence="ECO:0000269|PubMed:15509579
uniprot
proteins
protein_family
MnmA/TRMU family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15509579
uniprot
proteins
pubmed
15944150
uniprot
proteins
pubmed
16513084
uniprot
proteins
pubmed
16826519
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19732863
uniprot
proteins
pubmed
28049726
uniprot
proteins
sequence_length
421
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:15509579, ECO:0000269|PubMed:15944150, ECO:0000269|PubMed:16513084, ECO:0000269|PubMed:16826519}.
uniprot
proteins