TRMU

Protein identityUniProt · HPA

UniProt accession

O75648

Gene

TRMU

Ensembl

ENSG00000100416

Chromosome

22

Canonical length

421 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria

OverviewNCBI Gene

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. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Canonical amino-acid sequenceUniProt

421 residues, UniProt reviewed canonical sequence.

>O75648|TRMU
     1  MQALRHVVCA LSGGVDSAVA ALLLRRRGYQ VTGVFMKNWD SLDEHGVCTA DKDCEDAYRV
    61  CQILDIPFHQ VSYVKEYWND VFSDFLNEYE KGRTPNPDIV CNKHIKFSCF FHYAVDNLGA
   121  DAIATGHYAR TSLEDEEVFE QKHVKKPEGL FRNRFEVRNA VKLLQAADSF KDQTFFLSQV
   181  SQDALRRTIF PLGGLTKEFV KKIAAENRLH HVLQKKESMG MCFIGKRNFE HFLLQYLQPR
   241  PGHFISIEDN KVLGTHKGWF LYTLGQRANI GGLREPWYVV EKDSVKGDVF VAPRTDHPAL
   301  YRDLLRTSRV HWIAEEPPAA LVRDKMMECH FRFRHQMALV PCVLTLNQDG TVWVTAVQAV
   361  RALATGQFAV FYKGDECLGS GKILRLGPSA YTLQKGQRRA GMATESPSDS PEDGPGLSPL
   421  L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TRMU can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

16 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TRMU.

Disease | AllUniProt

Conditions TRMU is implicated in, by any mechanism.

• Deafness, aminoglycoside-induced (DFNI) MIM:580000
• Liver failure, infantile, transient (LFIT) MIM:613070

Disease | GeneticClinVar

171 pathogenic / likely-pathogenic of 870 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
• Aminoglycoside-induced deafness
• TRMU-related disorder
• Inborn genetic diseases
• Germ cell tumor of testis

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.56

gnomAD pLI

0

gnomAD missense Z

-0.33

DepMap mean gene effect

0.12

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• tRNA wobble position uridine thiolation

Molecular functions

• ATP binding
• tRNA binding
• tRNA-5-taurinomethyluridine 2-sulfurtransferase

Cellular components

• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Rossmann-like alpha/beta/alpha sandwich fold
• tRNA-specific 2-thiouridylase MnmA-like
• tRNA-specific 2-thiouridylase MnmA-like, central domain superfamily
• tRNA-specific 2-thiouridylase MnmA-like, central domain
• tRNA-specific 2-thiouridylase MnmA-like, C-terminal domain
• tRNA methyl transferase HUP domain
• Aminomethyltransferase beta-barrel domain
• tRNA methyl transferase PRC-barrel domain

KeywordsUniProt

• ATP-binding
• Deafness
• Disulfide bond
• Mitochondrion
• Non-syndromic deafness
• Nucleotide-binding
• RNA-binding
• Transferase
• tRNA processing
• tRNA-binding