• Gene id: 25821

Gene Summary

• Gene Symbol: MTO1   Gene   UCSC   Ensembl
• Aliases: CGI-02, COXPD10
• Gene name: mitochondrial tRNA translation optimization 1
• Alternate names: protein MTO1 homolog, mitochondrial, homolog of yeast Mto1, mitochondrial MTO1-3, mitochondrial translation optimization 1 homolog,
• Gene location: 6q13 (73461736: 73509235)     Exons: 7     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 614667

Protein Summary

• Protein general information: Q9Y2Z2  
  • Name: Protein MTO1 homolog, mitochondrial
  • Length: 717  
  • Mass: 79964
  • Tissue specificity: Ubiquitously expressed in various tissues, but with a markedly elevated expression in tissues of high metabolic rates including cochlea. {ECO
• Sequence:

  MFYFRGCGRWVAVSFTKQQFPLARLSSDSAAPRTPHFDVIVIGGGHAGTEAATAAARCGSRTLLLTHRVDTIGQM
  SCNPSFGGIGKGHLMREVDALDGLCSRICDQSGVHYKVLNRRKGPAVWGLRAQIDRKLYKQNMQKEILNTPLLTV
  QEGAVEDLILTEPEPEHTGKCRVSGVVLVDGSTVYAESVILTTGTFLRGMIVIGLETHPAGRLGDQPSIGLAQTL
  EKLGFVVGRLKTGTPPRIAKESINFSILNKHIPDNPSIPFSFTNETVWIKPEDQLPCYLTHTNPRVDEIVLKNLH
  LNSHVKETTRGPRYCPSIESKVLRFPNRLHQVWLEPEGMDSDLIYPQGLSMTLPAELQEKMITCIRGLEKAKVIQ
  PDGVLLLLPRMECNGAISAHHNLPLPGYGVQYDYLDPRQITPSLETHLVQRLFFAGQINGTTGYEEAAAQGVIAG
  INASLRVSRKPPFVVSRTEGYIGVLIDDLTTLGTSEPYRMFTSRVEFRLSLRPDNADSRLTLRGYKDAGCVSQQR
  YERACWMKSSLEEGISVLKSIEFLSSKWKKLIPEASISTSRSLPVRALDVLKYEEVDMDSLAKAVPEPLKKYTKC
  RELAERLKIEATYESVLFHQLQEIKGVQQDEALQLPKDLDYLTIRDVSLSHEVREKLHFSRPQTIGAASRIPGVT
  PAAIINLLRFVKTTQRRQSAMNESSKTDQYLCDADRLQEREL

• Structural information:
  • Interpro: IPR036188  IPR026904  IPR004416  IPR002218  IPR020595  
  • Prosite: PS01280 PS01281
  • STRING: ENSP00000402038
• Other Databases: GeneCards:  MTO1  Malacards:  MTO1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050660	flavin adenine dinucleotide binding	IBA	molecular function
GO:0030488	tRNA methylation	IBA	biological process
GO:0070899	mitochondrial tRNA wobble uridine modification	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0002098	tRNA wobble uridine modification	IBA	biological process
GO:0008033	tRNA processing	IEA	biological process
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0002098	tRNA wobble uridine modification	IEA	biological process
GO:0008033	tRNA processing	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Combined oxidative phosphorylation deficiency	KEGG:H00891
Combined oxidative phosphorylation deficiency	KEGG:H00891
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq