U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

MTO1 mitochondrial tRNA translation optimization 1 [ Homo sapiens (human) ]

Gene ID: 25821, updated on 3-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
MTO1provided by HGNC
Official Full Name
mitochondrial tRNA translation optimization 1provided by HGNC
Primary source
HGNC:HGNC:19261
See related
Ensembl:ENSG00000135297 MIM:614667; AllianceGenome:HGNC:19261
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CGI-02; COXPD10
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 10.3), lymph node (RPKM 8.3) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See MTO1 in Genome Data Viewer
Location:
6q13
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (73461737..73509236)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (74638132..74686339)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (74171460..74218959)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:74104168-74104668 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:74108069-74108726 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:74113715-74113899 Neighboring gene DEAD-box helicase 43 Neighboring gene Sharpr-MPRA regulatory region 12175 Neighboring gene cyclic GMP-AMP synthase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17334 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:74171453-74172298 Neighboring gene RNA, U6 small nuclear 975, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24747 Neighboring gene RNA, 7SL, cytoplasmic 827, pseudogene Neighboring gene MPRA-validated peak5897 silencer Neighboring gene Sharpr-MPRA regulatory region 3585 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:74229093-74229915 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:74229916-74230737 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:74230738-74231560 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17336 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17337 Neighboring gene EEF1A1 antisense RNA 1 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24752 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:74273247-74273796 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:74275447-74275996 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:74285738-74286453

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Clinical and genetic analysis of combined oxidative phosphorylation defificiency-10 caused by MTO1 mutation. Zhou C, et al. Clin Chim Acta, 2022 Feb 1. PMID 34990597
  2. CircMTO1 suppresses hepatocellular carcinoma progression via the miR-541-5p/ZIC1 axis by regulating Wnt/β-catenin signaling pathway and epithelial-to-mesenchymal transition. Li D, et al. Cell Death Dis, 2021 Dec 20. PMID 34930906, Free PMC Article
  3. Circular RNA MTO1 Inhibits the Proliferation and Invasion of Ovarian Cancer Cells Through the miR-182-5p/KLF15 Axis. Wang N, et al. Cell Transplant, 2020 Jan-Dec. PMID 32731816, Free PMC Article
  4. Novel Mitochondrial Translation Optimizer-1 Mutations as a Cause of Hereditary Optic Neuropathy. Li E, et al. J Neuroophthalmol, 2020 Sep. PMID 31842146
  5. The genotypic and phenotypic spectrum of MTO1 deficiency. O'Byrne JJ, et al. Mol Genet Metab, 2018 Jan. PMID 29331171, Free PMC Article

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CircMTO1 suppresses hepatocellular carcinoma progression via the miR-541-5p/ZIC1 axis by regulating Wnt/beta-catenin signaling pathway and epithelial-to-mesenchymal transition.
    Title: CircMTO1 suppresses hepatocellular carcinoma progression via the miR-541-5p/ZIC1 axis by regulating Wnt/β-catenin signaling pathway and epithelial-to-mesenchymal transition.
  2. Clinical and genetic analysis of combined oxidative phosphorylation defificiency-10 caused by MTO1 mutation.
    Title: Clinical and genetic analysis of combined oxidative phosphorylation defificiency-10 caused by MTO1 mutation.
  3. CircMTO1 inhibits ox-LDL-stimulated vascular smooth muscle cell proliferation and migration via regulating the miR-182-5p/RASA1 axis.
    Title: CircMTO1 inhibits ox-LDL-stimulated vascular smooth muscle cell proliferation and migration via regulating the miR-182-5p/RASA1 axis.
  4. Circular RNA MTO1 Inhibits the Proliferation and Invasion of Ovarian Cancer Cells Through the miR-182-5p/KLF15 Axis.
    Title: Circular RNA MTO1 Inhibits the Proliferation and Invasion of Ovarian Cancer Cells Through the miR-182-5p/KLF15 Axis.
  5. Novel Mitochondrial Translation Optimizer-1 Mutations as a Cause of Hereditary Optic Neuropathy.
    Title: Novel Mitochondrial Translation Optimizer-1 Mutations as a Cause of Hereditary Optic Neuropathy.
  6. CircMTO1 inhibits liver fibrosis via regulation of miR-17-5p and Smad7.
    Title: CircMTO1 inhibits liver fibrosis via regulation of miR-17-5p and Smad7.
  7. Low MTO1 expression is associated with Mitochondrial diseases in neoplasms.
    Title: microRNA-mediated differential expression of TRMU, GTPBP3 and MTO1 in cell models of mitochondrial-DNA diseases.
  8. Two novel variants (c.[253G > A];[938G > A]) in the MTO1 gene were identified in a child with cardiomyopathy with early-onset brain disease.
    Title: Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
  9. MTO1 deficiency is lethal in some but not all cases, and a genotype-phenotype relation is suggested. Aside from lactic acidosis and cardiomyopathy, developmental delay and other phenotypic features affecting multiple organ systems are often present in these patients, suggesting a broader spectrum than hitherto reported.
    Title: The genotypic and phenotypic spectrum of MTO1 deficiency.
  10. Defects in the mitochondrial tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARgamma-UCP2-AMPK axis.
    Title: Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARγ-UCP2-AMPK axis.
Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
MedGen: C4749921 OMIM: 614702 GeneReviews: Not available
Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables flavin adenine dinucleotide binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in mitochondrial tRNA wobble uridine modification IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in tRNA methylation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
protein MTO1 homolog, mitochondrial
Names
homolog of yeast Mto1
mitochondrial MTO1-3
mitochondrial translation optimization 1 homolog

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032856.3 RefSeqGene

    Range
    5002..52501
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001123226.2 → NP_001116698.1  protein MTO1 homolog, mitochondrial isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) includes an additional in-frame exon compared to variant 1; it encodes isoform c which is longer than isoform a. The additional protein-coding exon contains Alu Sine repeat sequence.
    Source sequence(s)
    AK225828, AL603910, BC005808, BE501391, DN993156
    Consensus CDS
    CCDS47452.1
    UniProtKB/TrEMBL
    A0A7P0Z4R0
    Related
    ENSP00000402038.2, ENST00000415954.6
    Conserved Domains (1) summary
    COG0445
    Location:33 → 708
    MnmG; tRNA U34 5-carboxymethylaminomethyl modifying enzyme MnmG/GidA [Translation, ribosomal structure and biogenesis]

  2. NM_012123.4 → NP_036255.2  protein MTO1 homolog, mitochondrial isoform a

    See identical proteins and their annotated locations for NP_036255.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the predominant isoform (a).
    Source sequence(s)
    AK074625, AL603910, BC011051, BE501391, DN993156
    Consensus CDS
    CCDS34485.1
    UniProtKB/TrEMBL
    A0A7P0Z4R0
    Related
    ENSP00000419561.2, ENST00000498286.6
    Conserved Domains (3) summary
    PRK05192
    Location:36 → 670
    PRK05192; tRNA uridine 5-carboxymethylaminomethyl modification enzyme GidA; Validated
    pfam13932
    Location:438 → 654
    GIDA_assoc; GidA associated domain
    cl21454
    Location:358 → 456
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

  3. NM_133645.3 → NP_598400.1  protein MTO1 homolog, mitochondrial isoform b

    See identical proteins and their annotated locations for NP_598400.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an additional in-frame exon compared to variant 1; it encodes isoform b which is longer than isoform a. The additional protein-coding exon contains Alu Sine repeat sequence.
    Source sequence(s)
    AK074625, AL603910, AY078986, BE501391, DN993156
    Consensus CDS
    CCDS4979.1
    UniProtKB/Swiss-Prot
    B3KQB5, Q5SWL2, Q5SWL3, Q5SWL4, Q8NDN7, Q8WZ57, Q96FE6, Q9BS06, Q9Y2Z2
    UniProtKB/TrEMBL
    A0A7P0Z4R0
    Related
    ENSP00000359323.4, ENST00000370300.8
    Conserved Domains (3) summary
    PRK05192
    Location:36 → 695
    PRK05192; tRNA uridine 5-carboxymethylaminomethyl modification enzyme GidA; Validated
    pfam13932
    Location:463 → 679
    GIDA_assoc; GidA associated domain
    cl21454
    Location:403 → 481
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    73461737..73509236
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418605.1 → XP_047274561.1  protein MTO1 homolog, mitochondrial isoform X1

    UniProtKB/TrEMBL
    A0A7P0TA27
    Related
    ENSP00000505787.1, ENST00000679905.1

  2. XM_047418606.1 → XP_047274562.1  protein MTO1 homolog, mitochondrial isoform X2

    UniProtKB/TrEMBL
    A0A7P0TAU1
    Related
    ENSP00000506381.1, ENST00000681705.1

  3. XM_047418607.1 → XP_047274563.1  protein MTO1 homolog, mitochondrial isoform X3

    UniProtKB/TrEMBL
    A0A7P0T8Y9
    Related
    ENSP00000505386.1, ENST00000681620.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    74638132..74686339
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355094.1 → XP_054211069.1  protein MTO1 homolog, mitochondrial isoform X1

    UniProtKB/TrEMBL
    A0A7P0TA27

  2. XM_054355095.1 → XP_054211070.1  protein MTO1 homolog, mitochondrial isoform X2

    UniProtKB/TrEMBL
    A0A7P0TAU1

  3. XM_054355096.1 → XP_054211071.1  protein MTO1 homolog, mitochondrial isoform X3

    UniProtKB/TrEMBL
    A0A7P0T8Y9
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y2Z2.2 GenPept UniProtKB/Swiss-Prot:Q9Y2Z2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous