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FLASH GENE

Symbol

MTO1

contributors: mct/npt/pgu - updated : 07-01-2015

HGNC name	mitochondrial translation optimization 1 homolog (S. cerevisiae)
HGNC id	19261

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MTO1D MTO1 deficiency
Location	6q13      Physical location : 74.171.453 - 74.211.177
Synonym name	homolog of yeast Mto1
	mitochondrial MTO1-3
Synonym symbol(s)	CGI-02

DNA

TYPE	functioning gene
STRUCTURE	39.73 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_133645 13 splicing 3003 NP_598400 79.8 717 - 2002 12011058 NM_012123 12 splicing 2928 NP_036255 77.2 692 - 2002 12011058 NM_001123226 13 - 3048 NP_001116698 - 732 - 2002 12011058

EXPRESSION

Type	ubiquitous

constitutive of

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive intestine large intestine colon   moderately   liver         Endocrine thyroid       highly Hearing/Equilibrium ear inner cochlea     Lymphoid/Immune spleen       highly   thymus       moderately Nervous brain       lowly Reproductive female system breast mammary gland   predominantly   female system uterus cervix   moderately Respiratory lung       lowly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid         Muscular striatum skeletal

cell lineage
cell lines
fluid/secretion	highly in lymph

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

FlavoP

HOMOLOGY

interspecies	homolog to rattus Mto1 (82.2 pc)
	homolog to murine Mto1 (87.4 pc)

Homologene

FAMILY

gidA family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner

basic FUNCTION	apparently involved in translation
	acting as a disulfide oxidoreductase
	may play an important role in the pathogenesis of deafness-associated A1555G mutation in 12S rRNA gene or in tRNA genes
	involved in the 5-carboxymethylaminomethyl modification of the wobble uridine base in mitochondrial tRNAs
	may modulate the phenotypic manifestation of deafness-associated mitochondrial mutation
	involved in posttranscriptional modification of mitochondrial tRNAs (mt-tRNAs)
	FAD-containing enzyme involved in posttranscriptional modification of specific mt-tRNAs, thus contributing to the optimization of mtDNA-dependent protein synthesis

CELLULAR PROCESS	nucleotide
	protein

PHYSIOLOGICAL PROCESS

electron transport

text	tRNA processing

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	cofactor,
	FAD

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MTO1D

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS