MTO1

Protein identityUniProt · HPA

UniProt accession

Q9Y2Z2

Gene

MTO1

Ensembl

ENSG00000135297

Chromosome

6

Canonical length

717 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

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 mutation in the mitochondrial 12S rRNA gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

717 residues, UniProt reviewed canonical sequence.

>Q9Y2Z2|MTO1
     1  MFYFRGCGRW VAVSFTKQQF PLARLSSDSA APRTPHFDVI VIGGGHAGTE AATAAARCGS
    61  RTLLLTHRVD TIGQMSCNPS FGGIGKGHLM REVDALDGLC SRICDQSGVH YKVLNRRKGP
   121  AVWGLRAQID RKLYKQNMQK EILNTPLLTV QEGAVEDLIL TEPEPEHTGK CRVSGVVLVD
   181  GSTVYAESVI LTTGTFLRGM IVIGLETHPA GRLGDQPSIG LAQTLEKLGF VVGRLKTGTP
   241  PRIAKESINF SILNKHIPDN PSIPFSFTNE TVWIKPEDQL PCYLTHTNPR VDEIVLKNLH
   301  LNSHVKETTR GPRYCPSIES KVLRFPNRLH QVWLEPEGMD SDLIYPQGLS MTLPAELQEK
   361  MITCIRGLEK AKVIQPDGVL LLLPRMECNG AISAHHNLPL PGYGVQYDYL DPRQITPSLE
   421  THLVQRLFFA GQINGTTGYE EAAAQGVIAG INASLRVSRK PPFVVSRTEG YIGVLIDDLT
   481  TLGTSEPYRM FTSRVEFRLS LRPDNADSRL TLRGYKDAGC VSQQRYERAC WMKSSLEEGI
   541  SVLKSIEFLS SKWKKLIPEA SISTSRSLPV RALDVLKYEE VDMDSLAKAV PEPLKKYTKC
   601  RELAERLKIE ATYESVLFHQ LQEIKGVQQD EALQLPKDLD YLTIRDVSLS HEVREKLHFS
   661  RPQTIGAASR IPGVTPAAII NLLRFVKTTQ RRQSAMNESS KTDQYLCDAD RLQEREL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MTO1 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)

0.26

Highest tissue expression

17 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MTO1.

Disease | AllUniProt

Conditions MTO1 is implicated in, by any mechanism.

• Combined oxidative phosphorylation deficiency 10 (COXPD10) MIM:614702

Disease | GeneticClinVar

70 pathogenic / likely-pathogenic of 828 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
• Inborn genetic diseases
• Fetal anomalies with a likely genetic cause
• Mitochondrial oxidative phosphorylation disorder
• Abnormal brain morphology

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)

0.64

gnomAD pLI

0

gnomAD missense Z

0.65

DepMap mean gene effect

-0.23

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

• mitochondrial tRNA wobble uridine modification
• tRNA methylation

Molecular functions

• flavin adenine dinucleotide binding
• RNA binding

Cellular components

• cytosol
• GTPBP3-MTO1 complex
• mitochondrion
• transferase complex

Protein domainsUniProt · Pfam · InterPro

• FAD/NAD(P)-binding domain superfamily
• tRNA uridine 5-carboxymethylaminomethyl modification enzyme MnmG-related
• MnmG-related, conserved site
• tRNA uridine 5-carboxymethylaminomethyl modification enzyme MnmG, C-terminal
• MnmG, N-terminal domain
• tRNA uridine 5-carboxymethylaminomethyl modification enzyme, C-terminal subdomain superfamily
• tRNA uridine 5-carboxymethylaminomethyl modification enzyme, C-terminal subdomain
• tRNA uridine 5-carboxymethylaminomethyl modification enzyme, C-terminal, N-terninal subdomain
• Glucose inhibited division protein A
• tRNA modifying enzyme MnmG/GidA C-terminal helical bundle
• tRNA modifying enzyme MnmG/GidA C-terminal helical domain

KeywordsUniProt

• Cardiomyopathy
• FAD
• Flavoprotein
• Methylation
• Mitochondrion
• Primary mitochondrial disease
• Transit peptide
• tRNA processing

InteractionsUniProt · HPA

Protein binding partners of MTO1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GTPBP3