Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	25821
Gene name Gene Name - the full gene name approved by the HGNC.	Mitochondrial tRNA translation optimization 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MTO1
Synonyms (NCBI Gene) Gene synonyms aliases	CGI-02, COXPD10
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q13
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a mitochondrial protein thought to be involved in mitochondrial tRNA modification. The encoded protein may also play a role in the expression of the non-syndromic and aminoglycoside-induced deafness phenotypes associated with a specific

Show/Hide all(19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs141970072	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs143747297	G>A	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs200583827	C>A,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs201544686	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs371179032	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs397518449	->A	Pathogenic	Frameshift variant, coding sequence variant
rs398122419	C>T	Pathogenic	Missense variant, coding sequence variant
rs746382157	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs748152539	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs765548847	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs771939280	C>T	Pathogenic	Coding sequence variant, stop gained
rs1025884753	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1033653237	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1060499776	T>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1064793196	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1275100093	T>C,G	Likely-pathogenic	Intron variant
rs1554148965	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1561954433	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1582666067	C>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(273)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048594	hsa-miR-100-5p	CLASH	23622248
MIRT661712	hsa-miR-216a-5p	HITS-CLIP	23313552
MIRT661703	hsa-miR-6736-3p	HITS-CLIP	23313552
MIRT661711	hsa-miR-660-3p	HITS-CLIP	23313552
MIRT683630	hsa-miR-6852-5p	HITS-CLIP	23313552
MIRT683629	hsa-miR-6742-3p	HITS-CLIP	23313552
MIRT661702	hsa-miR-6787-3p	HITS-CLIP	23313552
MIRT683628	hsa-miR-23a-5p	HITS-CLIP	23313552
MIRT683627	hsa-miR-23b-5p	HITS-CLIP	23313552
MIRT683626	hsa-miR-1343-3p	HITS-CLIP	23313552
MIRT683625	hsa-miR-6783-3p	HITS-CLIP	23313552
MIRT683624	hsa-miR-498	HITS-CLIP	23313552
MIRT661712	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT661703	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT617559	hsa-miR-5693	HITS-CLIP	23824327
MIRT661702	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT661710	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT617555	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT661709	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT617553	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT617552	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT617549	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT661706	hsa-miR-891a-3p	HITS-CLIP	23824327
MIRT661705	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT661704	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT617544	hsa-miR-5698	HITS-CLIP	23824327
MIRT661700	hsa-miR-4315	HITS-CLIP	23824327
MIRT661698	hsa-miR-4790-5p	HITS-CLIP	23824327
MIRT674111	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT617559	hsa-miR-5693	HITS-CLIP	23824327
MIRT617558	hsa-miR-1267	HITS-CLIP	23824327
MIRT617557	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT617556	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT617555	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT671279	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT617554	hsa-miR-3135b	HITS-CLIP	23824327
MIRT617553	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT617551	hsa-miR-3652	HITS-CLIP	23824327
MIRT617550	hsa-miR-4430	HITS-CLIP	23824327
MIRT671278	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT617549	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT617548	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT617547	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT617546	hsa-miR-7641	HITS-CLIP	23824327
MIRT671277	hsa-miR-5691	HITS-CLIP	23824327
MIRT671276	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT617545	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT617544	hsa-miR-5698	HITS-CLIP	23824327
MIRT669940	hsa-miR-4438	HITS-CLIP	23824327
MIRT669939	hsa-miR-3199	HITS-CLIP	23824327
MIRT669938	hsa-miR-8052	HITS-CLIP	23824327
MIRT669937	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT669936	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT669935	hsa-miR-5095	HITS-CLIP	23824327
MIRT669934	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT661712	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT661711	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT661710	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT661709	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT661708	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT661707	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT661706	hsa-miR-891a-3p	HITS-CLIP	23824327
MIRT661705	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT661704	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT661703	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT617559	hsa-miR-5693	HITS-CLIP	23824327
MIRT661702	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT617558	hsa-miR-1267	HITS-CLIP	23824327
MIRT617557	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT617556	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT617555	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT617554	hsa-miR-3135b	HITS-CLIP	23824327
MIRT617553	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT617552	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT617551	hsa-miR-3652	HITS-CLIP	23824327
MIRT617550	hsa-miR-4430	HITS-CLIP	23824327
MIRT617549	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT617548	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT617547	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT617546	hsa-miR-7641	HITS-CLIP	23824327
MIRT617545	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT617544	hsa-miR-5698	HITS-CLIP	23824327
MIRT661701	hsa-miR-5007-5p	HITS-CLIP	23824327
MIRT661700	hsa-miR-4315	HITS-CLIP	23824327
MIRT661699	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT661698	hsa-miR-4790-5p	HITS-CLIP	23824327
MIRT661697	hsa-miR-3672	HITS-CLIP	23824327
MIRT661696	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT661695	hsa-miR-8055	HITS-CLIP	23824327
MIRT617559	hsa-miR-5693	HITS-CLIP	23824327
MIRT617558	hsa-miR-1267	HITS-CLIP	23824327
MIRT617557	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT617556	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT617555	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT617554	hsa-miR-3135b	HITS-CLIP	23824327
MIRT617553	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT617552	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT617551	hsa-miR-3652	HITS-CLIP	23824327
MIRT617550	hsa-miR-4430	HITS-CLIP	23824327
MIRT617549	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT617548	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT617547	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT617546	hsa-miR-7641	HITS-CLIP	23824327
MIRT617545	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT617544	hsa-miR-5698	HITS-CLIP	23824327
MIRT625223	hsa-miR-8485	HITS-CLIP	23824327
MIRT625222	hsa-miR-603	HITS-CLIP	23824327
MIRT625221	hsa-miR-205-3p	HITS-CLIP	23824327
MIRT625220	hsa-miR-4742-3p	HITS-CLIP	23824327
MIRT625223	hsa-miR-8485	HITS-CLIP	23824327
MIRT625222	hsa-miR-603	HITS-CLIP	23824327
MIRT625221	hsa-miR-205-3p	HITS-CLIP	23824327
MIRT625220	hsa-miR-4742-3p	HITS-CLIP	23824327
MIRT617559	hsa-miR-5693	HITS-CLIP	23824327
MIRT617558	hsa-miR-1267	HITS-CLIP	23824327
MIRT617557	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT617556	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT617555	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT617554	hsa-miR-3135b	HITS-CLIP	23824327
MIRT617553	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT617552	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT617551	hsa-miR-3652	HITS-CLIP	23824327
MIRT617550	hsa-miR-4430	HITS-CLIP	23824327
MIRT617549	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT617548	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT617547	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT617546	hsa-miR-7641	HITS-CLIP	23824327
MIRT617545	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT617544	hsa-miR-5698	HITS-CLIP	23824327
MIRT661712	hsa-miR-216a-5p	PAR-CLIP	27292025
MIRT661702	hsa-miR-6787-3p	PAR-CLIP	27292025
MIRT661706	hsa-miR-891a-3p	PAR-CLIP	27292025
MIRT733541	hsa-miR-219a-5p	Immunofluorescence, qRT-PCR, Western blotting	34113391
MIRT736036	hsa-miR-92a-3p	Luciferase reporter assay, Western blotting, qRT-PCR	31456594
MIRT661712	hsa-miR-216a-5p	HITS-CLIP	23313552
MIRT661703	hsa-miR-6736-3p	HITS-CLIP	23313552
MIRT661711	hsa-miR-660-3p	HITS-CLIP	23313552
MIRT683630	hsa-miR-6852-5p	HITS-CLIP	23313552
MIRT683629	hsa-miR-6742-3p	HITS-CLIP	23313552
MIRT661702	hsa-miR-6787-3p	HITS-CLIP	23313552
MIRT683628	hsa-miR-23a-5p	HITS-CLIP	23313552
MIRT683627	hsa-miR-23b-5p	HITS-CLIP	23313552
MIRT683626	hsa-miR-1343-3p	HITS-CLIP	23313552
MIRT683625	hsa-miR-6783-3p	HITS-CLIP	23313552
MIRT683624	hsa-miR-498	HITS-CLIP	23313552
MIRT661712	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT661703	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT617559	hsa-miR-5693	HITS-CLIP	23824327
MIRT661702	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT661710	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT617555	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT661709	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT617553	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT617552	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT617549	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT661706	hsa-miR-891a-3p	HITS-CLIP	23824327
MIRT661705	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT661704	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT617544	hsa-miR-5698	HITS-CLIP	23824327
MIRT661700	hsa-miR-4315	HITS-CLIP	23824327
MIRT661698	hsa-miR-4790-5p	HITS-CLIP	23824327
MIRT674111	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT617559	hsa-miR-5693	HITS-CLIP	23824327
MIRT617558	hsa-miR-1267	HITS-CLIP	23824327
MIRT617557	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT617556	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT617555	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT671279	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT617554	hsa-miR-3135b	HITS-CLIP	23824327
MIRT617553	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT617551	hsa-miR-3652	HITS-CLIP	23824327
MIRT617550	hsa-miR-4430	HITS-CLIP	23824327
MIRT671278	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT617549	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT617548	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT617547	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT617546	hsa-miR-7641	HITS-CLIP	23824327
MIRT671277	hsa-miR-5691	HITS-CLIP	23824327
MIRT671276	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT617545	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT617544	hsa-miR-5698	HITS-CLIP	23824327
MIRT669940	hsa-miR-4438	HITS-CLIP	23824327
MIRT669939	hsa-miR-3199	HITS-CLIP	23824327
MIRT669938	hsa-miR-8052	HITS-CLIP	23824327
MIRT669937	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT669936	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT669935	hsa-miR-5095	HITS-CLIP	23824327
MIRT669934	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT661712	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT661711	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT661710	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT661709	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT661708	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT661707	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT661706	hsa-miR-891a-3p	HITS-CLIP	23824327
MIRT661705	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT661704	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT661703	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT617559	hsa-miR-5693	HITS-CLIP	23824327
MIRT661702	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT617558	hsa-miR-1267	HITS-CLIP	23824327
MIRT617557	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT617556	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT617555	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT617554	hsa-miR-3135b	HITS-CLIP	23824327
MIRT617553	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT617552	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT617551	hsa-miR-3652	HITS-CLIP	23824327
MIRT617550	hsa-miR-4430	HITS-CLIP	23824327
MIRT617549	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT617548	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT617547	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT617546	hsa-miR-7641	HITS-CLIP	23824327
MIRT617545	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT617544	hsa-miR-5698	HITS-CLIP	23824327
MIRT661701	hsa-miR-5007-5p	HITS-CLIP	23824327
MIRT661700	hsa-miR-4315	HITS-CLIP	23824327
MIRT661699	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT661698	hsa-miR-4790-5p	HITS-CLIP	23824327
MIRT661697	hsa-miR-3672	HITS-CLIP	23824327
MIRT661696	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT661695	hsa-miR-8055	HITS-CLIP	23824327
MIRT617559	hsa-miR-5693	HITS-CLIP	23824327
MIRT617558	hsa-miR-1267	HITS-CLIP	23824327
MIRT617557	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT617556	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT617555	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT617554	hsa-miR-3135b	HITS-CLIP	23824327
MIRT617553	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT617552	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT617551	hsa-miR-3652	HITS-CLIP	23824327
MIRT617550	hsa-miR-4430	HITS-CLIP	23824327
MIRT617549	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT617548	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT617547	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT617546	hsa-miR-7641	HITS-CLIP	23824327
MIRT617545	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT617544	hsa-miR-5698	HITS-CLIP	23824327
MIRT625223	hsa-miR-8485	HITS-CLIP	23824327
MIRT625222	hsa-miR-603	HITS-CLIP	23824327
MIRT625221	hsa-miR-205-3p	HITS-CLIP	23824327
MIRT625220	hsa-miR-4742-3p	HITS-CLIP	23824327
MIRT625223	hsa-miR-8485	HITS-CLIP	23824327
MIRT625222	hsa-miR-603	HITS-CLIP	23824327
MIRT625221	hsa-miR-205-3p	HITS-CLIP	23824327
MIRT625220	hsa-miR-4742-3p	HITS-CLIP	23824327
MIRT617559	hsa-miR-5693	HITS-CLIP	23824327
MIRT617558	hsa-miR-1267	HITS-CLIP	23824327
MIRT617557	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT617556	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT617555	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT617554	hsa-miR-3135b	HITS-CLIP	23824327
MIRT617553	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT617552	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT617551	hsa-miR-3652	HITS-CLIP	23824327
MIRT617550	hsa-miR-4430	HITS-CLIP	23824327
MIRT617549	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT617548	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT617547	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT617546	hsa-miR-7641	HITS-CLIP	23824327
MIRT617545	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT617544	hsa-miR-5698	HITS-CLIP	23824327
MIRT1164556	hsa-miR-2114	CLIP-seq
MIRT1164557	hsa-miR-3161	CLIP-seq
MIRT1164558	hsa-miR-3529	CLIP-seq
MIRT1164559	hsa-miR-379	CLIP-seq
MIRT1164560	hsa-miR-4432	CLIP-seq
MIRT1164561	hsa-miR-4451	CLIP-seq
MIRT1164562	hsa-miR-4650-3p	CLIP-seq
MIRT1164563	hsa-miR-4762-5p	CLIP-seq
MIRT1164564	hsa-miR-4775	CLIP-seq
MIRT1164565	hsa-miR-499-5p	CLIP-seq
MIRT1164566	hsa-miR-633	CLIP-seq

Show/Hide all(13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22681889
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IBA
GO:0008033	Process	TRNA processing	IEA
GO:0030488	Process	TRNA methylation	IBA
GO:0050660	Function	Flavin adenine dinucleotide binding	IBA
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0070899	Process	Mitochondrial tRNA wobble uridine modification	IBA
GO:0070899	Process	Mitochondrial tRNA wobble uridine modification	IMP	29390138
GO:0160236	Function	TRNA 5-taurinomethyluridine synthase activity	IMP	29390138
GO:1990234	Component	Transferase complex	IPI	29390138

MIM	HGNC	e!Ensembl
614667	19261	ENSG00000135297

Protein

UniProt ID

Q9Y2Z2

Protein name

5-taurinomethyluridine-[tRNA] synthase subunit MTO1, mitochondrial (Mitochondrial tRNA translation optimization 1) (Protein MTO1 homolog, mitochondrial)

Protein 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 (Pub

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01134	GIDA	38 → 461	Glucose inhibited division protein A	Family
PF13932	GIDA_assoc	463 → 683	GidA associated domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed in various tissues, but with a markedly elevated expression in tissues of high metabolic rates including cochlea. {ECO:0000269|PubMed:12011058}.

Sequence

MFYFRGCGRWVAVSFTKQQFPLARLSSDSAAPRTPHFDVIVIGGGHAGTEAATAAARCGS
RTLLLTHRVDTIGQMSCNPSFGGIGKGHLMREVDALDGLCSRICDQSGVHYKVLNRRKGP
AVWGLRAQIDRKLYKQNMQKEILNTPLLTVQEGAVEDLILTEPEPEHTGKCRVSGVVLVD
GSTVYAESVILTTGTFLRGMIVIGLETHPAGRLGDQPSIGLAQTLEKLGFVVGRLKTGTP
PRIAKESINFSILNKHIPDNPSIPFSFTNETVWIKPEDQLPCYLTHTNPRVDEIVLKNLH
LNSHVKETTRGPRYCPSIESKVLRFPNRLHQVWLEPEGMDSDLIYPQGLSMTLPAELQEK
MITCIRGLEKAKVIQPDGVLLLLPRMECNGAISAHHNLPLPGYGVQYDYLDPRQITPSLE
THLVQRLFFAGQINGTTGYEEAAAQGVIAGINASLRVSRKPPFVVSRTEGYIGVLIDDLT
TLGTSEPYRMFTSRVEFRLSLRPDNADSRLTLRGYKDAGCVSQQRYERACWMKSSLEEGI
SVLKSIEFLSSKWKKLIPEASISTSRSLPVRALDVLKYEEVDMDSLAKAVPEPLKKYTKC
RELAERLKIEATYESVLFHQLQEIKGVQQDEALQLPKDLDYLTIRDVSLSHEVREKLHFS
RPQTIGAASRIPGVTPAAIINLLRFVKTTQRRQSAMNESSKTDQYLCDADRLQEREL

Sequence length

717

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Mitochondrial Hypertrophic Cardiomyopathy With Lactic Acidosis	mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mto1 deficiency	rs771939280, rs1561954433, rs1582666067, rs397518449, rs775623164, rs143747297, rs1030161382, rs398122419, rs748152539, rs200583827, rs1554148965, rs1033653237	N/A
Developmental Delay	global developmental delay	rs143747297	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Mitochondrial Diseases	mitochondrial disease	N/A	N/A	GenCC

Show/Hide Text Mining Associations (45)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acidosis Lactic	Associate	22608499, 23929671, 29331171, 29348686
Ataxia	Associate	29331171
ATR X syndrome	Associate	34738503
Brain Diseases	Associate	29440775
Breast Neoplasms	Associate	24160266
Carcinoma Hepatocellular	Inhibit	31148365
Carcinoma Hepatocellular	Associate	31556152
Carcinoma Renal Cell	Associate	35508649
Cardiomyopathies	Associate	25058219, 29440775
Cardiomyopathy Hypertrophic	Associate	22608499, 23929671, 29331171, 29348686
Cerebral Small Vessel Diseases	Associate	35699875
Chemical and Drug Induced Liver Injury	Inhibit	31148365
Colorectal Neoplasms	Inhibit	30556859
Combined Oxidative Phosphorylation Deficiency 1	Associate	29331171
Deafness	Associate	12011058, 18391568, 19338775, 25058219
Developmental Disabilities	Associate	29331171
Failure to Thrive	Associate	29331171
Feeding and Eating Disorders	Associate	29331171
Fractures Spontaneous	Associate	34545623
Gallbladder Neoplasms	Stimulate	32894542
Glioblastoma	Inhibit	31456594
Hepatitis B Chronic	Inhibit	31148365
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	25058219
Intellectual Disability	Associate	29331171
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	Inhibit	29331171
Liver Cirrhosis	Inhibit	31148365
Lymphatic Metastasis	Inhibit	30556859, 35478417
MELAS Syndrome	Associate	35699875, 36928678
MERRF Syndrome	Associate	36928678
Mitochondrial Diseases	Associate	23929671, 27854233, 28740091
Neoplasm Metastasis	Inhibit	33506896
Neoplasms	Associate	24160266, 31713278, 34545623, 35478417
Neoplasms	Inhibit	31148365, 31456594
Neoplasms	Stimulate	32894542
Optic Atrophy	Associate	29331171
Osteosarcoma	Inhibit	33506896
Osteosarcoma	Associate	34545623
Ovarian Neoplasms	Associate	32731816
Prostatic Neoplasms	Associate	31713278
Respiratory Insufficiency	Associate	12011058
Respiratory System Abnormalities	Associate	23929671
Seizures	Associate	29331171
Squamous Cell Carcinoma of Head and Neck	Associate	34738503
Stomach Neoplasms	Associate	35478417
Uterine Cervical Neoplasms	Associate	35384929

MTO1 (mitochondrial tRNA translation optimization 1)