Details for: TRMU

Gene ID: 55687

Symbol: TRMU

Ensembl ID: ENSG00000100416

Description: tRNA mitochondrial 2-thiouridylase

Associated with

Other Information

Genular Protein ID: 1510589598

Symbol: MTU1_HUMAN

Name: Mitochondrial tRNA-specific 2-thiouridylase 1

UniProtKB Accession Codes:

O75648 A8K3U7 Q05C99 Q5W9C8 Q66K31 Q6ICC3 Q9NWC1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 13 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 11 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 5 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 Pumba 1 RNAct 1 Reactome 1 RefSeq 4 Rhea 5 SAM 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 16513084

Title: Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations.

PubMed ID: 16513084

DOI: 10.1016/j.bbrc.2006.02.078

PubMed ID: 15509579

Title: Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases.

PubMed ID: 15509579

DOI: 10.1074/jbc.m409306200

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15944150

Title: Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15 S rRNA.

PubMed ID: 15944150

DOI: 10.1074/jbc.m504247200

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 16826519

Title: Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.

PubMed ID: 16826519

DOI: 10.1086/506389

PubMed ID: 19732863

Title: Acute infantile liver failure due to mutations in the TRMU gene.

PubMed ID: 19732863

DOI: 10.1016/j.ajhg.2009.08.004

PubMed ID: 28049726

Title: Biochemical evidence for a nuclear modifier allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) related to mitochondrial tRNA modification in the phenotypic manifestation of deafness-associated 12S rRNA mutation.

PubMed ID: 28049726

DOI: 10.1074/jbc.m116.749374

Sequence Information:

  • Length: 421
  • Mass: 47745
  • Checksum: F06A57DED79BBE84
  • Sequence:
    • MQALRHVVCA LSGGVDSAVA ALLLRRRGYQ VTGVFMKNWD SLDEHGVCTA DKDCEDAYRV 
CQILDIPFHQ VSYVKEYWND VFSDFLNEYE KGRTPNPDIV CNKHIKFSCF FHYAVDNLGA 
DAIATGHYAR TSLEDEEVFE QKHVKKPEGL FRNRFEVRNA VKLLQAADSF KDQTFFLSQV 
SQDALRRTIF PLGGLTKEFV KKIAAENRLH HVLQKKESMG MCFIGKRNFE HFLLQYLQPR 
PGHFISIEDN KVLGTHKGWF LYTLGQRANI GGLREPWYVV EKDSVKGDVF VAPRTDHPAL 
YRDLLRTSRV HWIAEEPPAA LVRDKMMECH FRFRHQMALV PCVLTLNQDG TVWVTAVQAV 
RALATGQFAV FYKGDECLGS GKILRLGPSA YTLQKGQRRA GMATESPSDS PEDGPGLSPL 
L

Genular Protein ID: 3315713316

Symbol: Q2PPL5_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q2PPL5

Database IDs:

Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 5 EPD 1 Ensembl 5 GO 2 Gene3D 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 InterPro 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

PubMed ID: 16513084

Title: Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations.

PubMed ID: 16513084

DOI: 10.1016/j.bbrc.2006.02.078

Sequence Information:

  • Length: 99
  • Mass: 11334
  • Checksum: D8F7D6176D8AFC4E
  • Sequence:
    • MQALRHVVCA LSGGVDSAVA ALLLRRRGYQ VTGVFMKNWD SLDEHGVCTA DKDCEDAYRV 
CQILDIPFHQ VSYVKEYWND VFRGRCHCHR SLCKNFPGR

Genular Protein ID: 858102259

Symbol: Q2PPL4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q2PPL4

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 2 GO 2 Gene3D 1 GenomeRNAi 1 InterPro 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 1 RefSeq 1 SUPFAM 1

Citations:

PubMed ID: 16513084

Title: Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations.

PubMed ID: 16513084

DOI: 10.1016/j.bbrc.2006.02.078

Sequence Information:

  • Length: 99
  • Mass: 11350
  • Checksum: D8E4E4044CB8EF7C
  • Sequence:
    • MQALRHVVCS LSGGVDSAVA ALLLRRRGYQ VTGVFMKNWD SLDEHGVCTA DKDCEDAYRV 
CQILDIPFHQ VSYVKEYWND VFRGRCHCHR SLCKNFPGR

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.