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

Gene ID: 25821, updated on 5-Aug-2018

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; Vega:OTTHUMG00000015032
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

Genomic context

See MTO1 in Genome Data Viewer
Location:
6q13
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (73461731..73501456)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (74171454..74211179)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene DEAD-box helicase 43 Neighboring gene cyclic GMP-AMP synthase Neighboring gene RNA, U6 small nuclear 975, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 827, pseudogene Neighboring gene eukaryotic translation elongation factor 1 alpha 1 Neighboring gene solute carrier family 17 member 5 Neighboring gene ribosomal protein S27 pseudogene 15

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • tRNA modification in the mitochondrion, organism-specific biosystem (from REACTOME)
    tRNA modification in the mitochondrion, organism-specific biosystemThe 22 tRNAs encoded by the mitochondrial genome are modified in the mitochondrial matrix by enzymes encoded in the nucleus and imported into mitochondria (reviewed in Suzuki et al. 2011, Salinas-Gie...
  • tRNA processing, organism-specific biosystem (from REACTOME)
    tRNA processing, organism-specific biosystemGenes encoding transfer RNAs (tRNAs) are transcribed by RNA polymerase III in the nucleus and by mitochondrial RNA polymerase in the mitochondrion.In the nucleus transcription reactions produce precu...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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)

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_032856.1 RefSeqGene

    Range
    5001..44726
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001123226.1NP_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, BC005808, BE501391, DN993156
    Consensus CDS
    CCDS47452.1
    UniProtKB/Swiss-Prot
    Q9Y2Z2
    Related
    ENSP00000402038.2, OTTHUMP00000224666, ENST00000415954.6, OTTHUMT00000375003
    Conserved Domains (3) summary
    PRK05192
    Location:36710
    PRK05192; tRNA uridine 5-carboxymethylaminomethyl modification enzyme GidA; Validated
    pfam13932
    Location:478694
    GIDA_assoc; GidA associated domain
    cl21454
    Location:358496
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. NM_012123.3NP_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, BC011051, BE501391, DN993156
    Consensus CDS
    CCDS34485.1
    UniProtKB/Swiss-Prot
    Q9Y2Z2
    Related
    ENSP00000419561.1, OTTHUMP00000016738, ENST00000498286.5, OTTHUMT00000041213
    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_133645.2NP_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, AY078986, BE501391, DN993156
    Consensus CDS
    CCDS4979.1
    UniProtKB/Swiss-Prot
    Q9Y2Z2
    Related
    ENSP00000359323.4, OTTHUMP00000016740, ENST00000370300.8, OTTHUMT00000041215
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    73461731..73501456
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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