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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	25821
Gene name	Mitochondrial tRNA translation optimization 1
Gene symbol	MTO1
Synonyms (NCBI Gene)	CGI-02COXPD10
Chromosome	6
Chromosome location	6q13
Summary	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

273

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	ImmunofluorescenceqRT-PCRWestern blotting	34113391
MIRT736036	hsa-miR-92a-3p	Luciferase reporter assayWestern blottingqRT-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

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic	rs1060499776	RCV000454152	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs143747297	RCV001255405	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	Pathogenic; Likely pathogenic	rs2150031480, rs755954353, rs372842922, rs2150042284, rs769532203, rs2150035785, rs764848745, rs2150027394, rs1250411982, rs2150042308, rs148667065, rs2150044996, rs2150044955, rs934138970, rs1322658068 View all (32 more)	RCV001386172 RCV001386960 RCV001390070 RCV001381911 RCV003533032 View all (42 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial oxidative phosphorylation disorder	Likely pathogenic; Pathogenic	rs143747297	RCV000826120	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MTO1-related disorder	Likely pathogenic; Pathogenic	rs769532203	RCV003401722	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs1771437575	RCV005932261	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (65)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acidosis Lactic	Lactic acidosis	Pubtator	22608499, 23929671, 29331171, 29348686	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30975029		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	29331171	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	29440775	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24160266, 30015883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24160266	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31148365	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31556152	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31556152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35508649	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	25058219, 25506927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	25058219, 29440775	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	22608499, 23929671, 29331171, 29348686	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	35699875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31556152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30556859	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined Oxidative Phosphorylation Deficiency 1	Combined oxidative phosphorylation deficiency	Pubtator	29331171	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10	Combined Oxidative Phosphorylation Deficiency	GENOMICS_ENGLAND_DG	22608499, 27604308, 29331171		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10	Combined Oxidative Phosphorylation Deficiency	CLINVAR_DG	22608499, 23929671, 25058219, 29331171, 29440775		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10	Combined Oxidative Phosphorylation Deficiency	UNIPROT_DG	22608499		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10	Combined Oxidative Phosphorylation Deficiency	BEFREE	29331171		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10	Combined Oxidative Phosphorylation Deficiency	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10	Combined Oxidative Phosphorylation Deficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	28732077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	12011058, 18391568, 19338775, 25058219	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29331171	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	32894542	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31456594	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29331171		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heart failure	Heart Failure	BEFREE	28732077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	31148365	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	22608499, 23929671, 25506927, 29331171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	22608499, 23929671, 25506927, 29331171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	29331171	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	25434004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	31148365	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30556859, 35478417	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24160266, 30015883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31556152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31713278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24160266		★★★★★ ★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	Melas syndrome	Pubtator	35699875, 36928678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	Myoclonic epilepsy with ragged red fibers	Pubtator	36928678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	23929671, 27854233, 28740091	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	25058219		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	Mitochondrial Hypertrophic Cardiomyopathy With Lactic Acidosis	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial Respiratory Chain Deficiencies	Mitochondrial Respiratory Chain Deficiencies	BEFREE	23929671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31713278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	29331171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	29331171	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33506896	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	34545623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32731816	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oxidative Phosphorylation Deficiencies	Oxidative Phosphorylation Deficiency	BEFREE	29331171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31713278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31713278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	29331171	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31556152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34738503	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35478417	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35384929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MTO1 (mitochondrial tRNA translation optimization 1)