Version 5.4
| Homo sapiens Protein: TRMU | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Protein | IDBP-12053.7 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | TRMU | ||||||||||||||||||
| Protein Name | tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Protein | ENSP00000370407 | ||||||||||||||||||
| InnateDB Gene | IDBG-12047 (TRMU) | ||||||||||||||||||
| Protein Structure |
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| UniProt Annotation | |||||||||||||||||||
| Function | Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). Required for the formation of 5-taurinomethyl-2- thiouridine (tm5s2U) of mitochondrial tRNA(Lys), tRNA(Glu), and tRNA(Gln) at the wobble position. ATP is required to activate the C2 atom of the wobble base. {ECO:0000269PubMed:15509579, ECO:0000269PubMed:15944150, ECO:0000269PubMed:16826519}. | ||||||||||||||||||
| Subcellular Localization | Mitochondrion {ECO:0000269PubMed:15509579, ECO:0000269PubMed:15944150, ECO:0000269PubMed:16513084, ECO:0000269PubMed:16826519}. | ||||||||||||||||||
| Disease Associations | Liver failure, infantile, transient (LFIT) [MIM:613070]: A transient disorder of hepatic function characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, increased serum lactate. Patients who survive the initial acute episode can recover, show normal development and have no recurrence. {ECO:0000269PubMed:19732863}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
| Tissue Specificity | Ubiquitous. Abundantly expressed in tissues with high metabolic rates including heart, liver, kidney, and brain. {ECO:0000269PubMed:16513084}. | ||||||||||||||||||
| Comments | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||||||||||||||
| PDB ID | |||||||||||||||||||
| InterPro |
IPR001962
Asparagine synthase IPR004506 tRNA-specific 2-thiouridylase IPR020536 Thil, AANH domain IPR022310 NAD/GMP synthase |
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| PFAM |
PF00733
PF03054 PF02568 PF02540 |
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| PRINTS | |||||||||||||||||||
| PIRSF | |||||||||||||||||||
| SMART | |||||||||||||||||||
| TIGRFAMs | |||||||||||||||||||
| Post-translational Modifications | |||||||||||||||||||
| Modification | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | O75648 | ||||||||||||||||||
| PhosphoSite | PhosphoSite-O75648 | ||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 55687 | ||||||||||||||||||
| UniGene | Hs.602392 | ||||||||||||||||||
| RefSeq | NP_001269714 | ||||||||||||||||||
| HUGO | HGNC:25481 | ||||||||||||||||||
| OMIM | 610230 | ||||||||||||||||||
| CCDS | CCDS63510 | ||||||||||||||||||
| HPRD | 15571 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AB178028 AF448221 AK001002 AK290712 AL031588 AY062123 BC027991 BC080631 CH471138 CR456445 | ||||||||||||||||||
| GenPept | AAH27991 AAH80631 AAL35970 AAL38183 BAA91462 BAD66875 BAF83401 CAB38414 CAG30331 CAP58845 EAW73422 EAW73426 | ||||||||||||||||||