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

Gene ID: 25821, updated on 27-Nov-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
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Genomic context

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

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
 
located_in mitochondrion HTP PubMed 
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)

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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_001123226.2NP_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_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_047418605.1XP_047274561.1  protein MTO1 homolog, mitochondrial isoform X1

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

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

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

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

    UniProtKB/TrEMBL
    A0A7P0T8Y9