• Gene id: 55687

Gene Summary

• Gene Symbol: TRMU   Gene   UCSC   Ensembl
• Aliases: LCAL3, MTO2, MTU1, TRMT, TRMT1
• Gene name: tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
• Alternate names: mitochondrial tRNA-specific 2-thiouridylase 1, MTO2 homolog, lung cancer associated lncRNA 3, mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase,
• Gene location: 22q13.31 (46335713: 46357339)     Exons: 12     NC_000022.11
• Gene summary(Entrez): This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties
• OMIM: 606031

Protein Summary

• Protein general information: O75648  
  • Name: Mitochondrial tRNA specific 2 thiouridylase 1 (EC 2.8.1.14) (MTO2 homolog)
  • Length: 421  
  • Mass: 47745
  • Tissue specificity: Ubiquitous. Abundantly expressed in tissues with high metabolic rates including heart, liver, kidney, and brain. {ECO
• Sequence:

  MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVK
  EYWNDVFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGL
  FRNRFEVRNAVKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIG
  KRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPAL
  YRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVPCVLTLNQDGTVWVTAVQAVRALATGQFAVFYKGD
  ECLGSGKILRLGPSAYTLQKGQRRAGMATESPSDSPEDGPGLSPLL

• Structural information:
  • Interpro: IPR023382  IPR014729  IPR004506  
  • CDD: cd01998
  • STRING: ENSP00000290846
• Other Databases: GeneCards:  TRMU  Malacards:  TRMU

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0002143	tRNA wobble position uridine thiolation	IBA	biological process
GO:0008033	tRNA processing	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016783	sulfurtransferase activity	IEA	molecular function
GO:0000049	tRNA binding	IEA	molecular function
GO:0008033	tRNA processing	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005739	mitochondrion	ISS	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0002143	tRNA wobble position uridine thiolation	IBA	biological process
GO:0008033	tRNA processing	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016783	sulfurtransferase activity	IEA	molecular function
GO:0000049	tRNA binding	IEA	molecular function
GO:0008033	tRNA processing	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005739	mitochondrion	ISS	cellular component

Diseases

Associated diseases	References
Infantile liver failure	KEGG:H01367
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq