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

    Gene ID: 25821, updated on 17-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    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_001123226.2NP_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:33708
      MnmG; tRNA U34 5-carboxymethylaminomethyl modifying enzyme MnmG/GidA [Translation, ribosomal structure and biogenesis]
    2. NM_012123.4NP_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:36670
      PRK05192; tRNA uridine 5-carboxymethylaminomethyl modification enzyme GidA; Validated
      pfam13932
      Location:438654
      GIDA_assoc; GidA associated domain
      cl21454
      Location:358456
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    3. NM_133645.3NP_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:36695
      PRK05192; tRNA uridine 5-carboxymethylaminomethyl modification enzyme GidA; Validated
      pfam13932
      Location:463679
      GIDA_assoc; GidA associated domain
      cl21454
      Location:403481
      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_047418605.1XP_047274561.1  protein MTO1 homolog, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A0A7P0TA27, A0A7P0Z471
      Related
      ENSP00000505787.1, ENST00000679905.1
    2. XM_047418606.1XP_047274562.1  protein MTO1 homolog, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A0A7P0TAU1, A0A7P0Z471
      Related
      ENSP00000506381.1, ENST00000681705.1
    3. XM_047418607.1XP_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_054355094.1XP_054211069.1  protein MTO1 homolog, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A0A7P0TA27, A0A7P0Z471
    2. XM_054355095.1XP_054211070.1  protein MTO1 homolog, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A0A7P0TAU1, A0A7P0Z471
    3. XM_054355096.1XP_054211071.1  protein MTO1 homolog, mitochondrial isoform X3

      UniProtKB/TrEMBL
      A0A7P0T8Y9, A0A7P0Z471