MTO1
entrez
25821
canonical
uniprot
Q9Y2Z2
canonical
ensembl
ENSG00000135297
resolver
ensp
ENSP00000359323
resolver
ensp
ENSP00000402038
resolver
ensp
ENSP00000419561
resolver
ensp
ENSP00000505373
resolver
ensp
ENSP00000505386
resolver
ensp
ENSP00000505751
resolver
ensp
ENSP00000505787
resolver
ensp
ENSP00000505906
resolver
ensp
ENSP00000506381
resolver
ensp
ENSP00000660220
resolver
ensp
ENSP00000712995
resolver
enst
ENST00000679627
resolver
enst
ENST00000679905
resolver
enst
ENST00000680131
resolver
enst
ENST00000681620
resolver
enst
ENST00000681705
resolver
enst
ENST00000681890
resolver
genesymbol
MTO1
resolver
hgnc
HGNC:19261
resolver
uniprot
A0A7P0T8Y9
resolver
uniprot
A0A7P0TA27
resolver
uniprot
A0A7P0TAU1
resolver
uniprot
B3KQB5
resolver
uniprot
Q5SWL2
resolver
uniprot
Q5SWL3
resolver
uniprot
Q5SWL4
resolver
uniprot
Q8NDN7
resolver
uniprot
Q8WZ57
resolver
uniprot
Q96FE6
resolver
uniprot
Q9BS06
resolver
uniprot_entry
A0A7P0T8Y9_HUMAN
resolver
uniprot_entry
A0A7P0TA27_HUMAN
resolver
uniprot_entry
A0A7P0TAU1_HUMAN
resolver
uniprot_entry
MTO1_HUMAN
resolver
uniprot_sec
B3KQB5
resolver
uniprot_sec
Q5SWL2
resolver
uniprot_sec
Q5SWL3
resolver
uniprot_sec
Q5SWL4
resolver
uniprot_sec
Q8NDN7
resolver
uniprot_sec
Q8WZ57
resolver
uniprot_sec
Q96FE6
resolver
uniprot_sec
Q9BS06
resolver
amino_acid_sequence
MFYFRGCGRWVAVSFTKQQFPLARLSSDSAAPRTPHFDVIVIGGGHAGTEAATAAARCGSRTLLLTHRVDTIGQMSCNPSFGGIGKGHLMREVDALDGLCSRICDQSGVHYKVLNRRKGPAVWGLRAQIDRKLYKQNMQKEILNTPLLTVQEGAVEDLILTEPEPEHTGKCRVSGVVLVDGSTVYAESVILTTGTFLRGMIVIGLETHPAGRLGDQPSIGLAQTLEKLGFVVGRLKTGTPPRIAKESINFSILNKHIPDNPSIPFSFTNETVWIKPEDQLPCYLTHTNPRVDEIVLKNLHLNSHVKETTRGPRYCPSIESKVLRFPNRLHQVWLEPEGMDSDLIYPQGLSMTLPAELQEKMITCIRGLEKAKVIQPDGVLLLLPRMECNGAISAHHNLPLPGYGVQYDYLDPRQITPSLETHLVQRLFFAGQINGTTGYEEAAAQGVIAGINASLRVSRKPPFVVSRTEGYIGVLIDDLTTLGTSEPYRMFTSRVEFRLSLRPDNADSRLTLRGYKDAGCVSQQRYERACWMKSSLEEGISVLKSIEFLSSKWKKLIPEASISTSRSLPVRALDVLKYEEVDMDSLAKAVPEPLKKYTKCRELAERLKIEATYESVLFHQLQEIKGVQQDEALQLPKDLDYLTIRDVSLSHEVREKLHFSRPQTIGAASRIPGVTPAAIINLLRFVKTTQRRQSAMNESSKTDQYLCDADRLQEREL
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 10 (COXPD10) [MIM:614702]: An autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration. Affected individuals present in infancy with hypertrophic cardiomyopathy and lactic acidosis. The severity is variable, but can be fatal in the most severe cases. {ECO:0000269|PubMed:22608499}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the GTPBP3-MTO1 complex that catalyzes the 5-taurinomethyluridine (taum(5)U) modification at the 34th wobble position (U34) of mitochondrial tRNAs (mt-tRNAs), which plays a role in mt-tRNA decoding and mitochondrial translation (PubMed:29390138, PubMed:33619562). Taum(5)U formation on mammalian mt-tRNA requires the presence of both GTPBP3-mediated GTPase activity and MTO1 catalytic activity (PubMed:29390138). {ECO:0000269|PubMed:29390138, ECO:0000269|PubMed:33619562}.
uniprot
proteins
mass_dalton
79964
uniprot
proteins
protein_family
MnmG family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
12011058
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
22608499
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
29390138
uniprot
proteins
pubmed
33619562
uniprot
proteins
sequence_length
717
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:Q923Z3}.
uniprot
proteins