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

    Gene ID: 25821, updated on 10-Dec-2024

    Summary

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    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
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    Genomic context

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    See MTO1 in Genome Data Viewer
    Location:
    6q13
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (73461737..73509236)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (74638132..74686339)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (74171460..74218959)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene oocyte expressed protein 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 ATAC-STARR-seq lymphoblastoid active region 24747 Neighboring gene RNA, U6 small nuclear 975, pseudogene 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

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Novel Mitochondrial Translation Optimizer-1 Mutations as a Cause of Hereditary Optic Neuropathy. Li E, et al. J Neuroophthalmol, 2020 Sep. PMID 31842146
    2. The genotypic and phenotypic spectrum of MTO1 deficiency. O'Byrne JJ, et al. Mol Genet Metab, 2018 Jan. PMID 29331171, Free PMC Article
    3. MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. Baruffini E, et al. Hum Mutat, 2013 Nov. PMID 23929671, Free PMC Article
    4. 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
    5. 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

    See all (53) 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

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    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

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein MTO1 homolog, mitochondrial
    Names
    homolog of yeast Mto1
    mitochondrial MTO1-3
    mitochondrial translation optimization 1 homolog

    NCBI Reference Sequences (RefSeq)

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    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_2024_08

    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, A0A7P0Z471
      Related
      ENSP00000505787.1, ENST00000679905.1

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

      UniProtKB/TrEMBL
      A0A7P0TAU1, A0A7P0Z471
      Related
      ENSP00000506381.1, ENST00000681705.1

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

      UniProtKB/TrEMBL
      A0A7P0T8Y9, A0A7P0Z471
      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, A0A7P0Z471

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

      UniProtKB/TrEMBL
      A0A7P0TAU1, A0A7P0Z471

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

      UniProtKB/TrEMBL
      A0A7P0T8Y9, A0A7P0Z471
    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.

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