PhenoModifier-Gene Detail

Gene "MTO1"

Found 1 record

Gene information

Gene symbol:

MTO1

See related:

Ensembl: ENSG00000135297, Gene ID: 25821

Additive variants :

Detected

Genetic interaction partners

Confidence	Stringent (ε>0.16 or ε<-0.12)	Intermediate (-0.16≤ε≤-0.08 or 0.08≤ε≤0.16)	Lenient (\|ε\|<0.08)
Positive interactions	FIS1 ASH1L FH PPM1L WDR48 ALG6 ACAA1 PIGG NPLOC4 FA2H FIGNL2 SIN3A PGD RPS11 AHI1 MSH4 SLC30A8 GRTP1 KIFC2 SLC13A4 URM1 TIMM13 MPC2 CTPS1 PDCD6IP RNF139 OGG1 UBE2N IDH2 RPL7 ANKZF1 CYB5RL HAT1 EMC3 AP4S1 RPS28 ABHD2 AVL9 ZADH2 PDHA2 RPS21 CTDNEP1 TOM1 MAN1A2 MIOS TVP23B ECHDC2 IPO8 NGLY1 FAAH HHATL POLI TTL DMGDH EXO1 SMPDL3B RHOH ANKEF1 CHAF1B SFN MRE11 LDHD EEF2 RAD52 AK4 PUM1 SDHAF2 LIG4 ALDH1L2 UCK2 NFXL1 SMARCAD1 PNPLA6 GSK3B TMED9 CANX TRIP12 MAT2A TST WDR59 ARHGAP29 FOXJ3 CHMP1A show allhide
Negative interactions	NF1 BIN3 TRMU PEX12 SRM PEX13 ELOVL1 BECN2 CYCS DOHH AZIN2 MRS2 SLC11A2 HIBCH GYG1 HSPA4L MAEA MRS2 PPIP5K1 RPL14 TBC1D22A HIRA LETM1 ATP23 SMARCB1 HGH1 TRMT44 SNAPC4 ABHD2 PGAP1 METTL18 IDH3A HCFC2 RPS7 CRLS1 DOT1L DLAT PTRH1 FASN TSR3 GATA2 TBC1D20 WDR6 CCNA2 SC5D VAC14 NMNAT1 VPS13D PRMT8 OSBP CTDSPL2 CTSA FKBP7 CTNS TEAD4 C2orf76 MELK CLIP1 PRPSAP2 INPP5E OAT VRK1 EVI5 POMT2 PELO H2AFX SLC36A1 ZFP42 REXO2 WIPI2 MAP3K4 DDX59 MEF2A DPH7 ANKRD55 UPF2 NIT2 NSUN2 PHGDH KDM7A RBM22 RACK1 show allhide

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Penetrance(1)

Modifier effect:

Altered incidence(1)

Detail：

Variant 1:

MTO1:variant

Gene:

MTO1

Genomic location:

dbSNP ID:

Target disease:

Diabetes Mellitus(DOID_9351)

Effect type:

Penetrance

Modifier effect:

Altered incidence

Evidence:

Elevated expression in tissues of high metabolic rates including cochlea

Effect:

Penetrance

Reference:

PMID12011058

Title:

Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation.

Species studied:

Human

Abstract:

The human mitochondrial 12 S rRNA A1555G mutation has been found to be associated with aminoglycoside-induced and non-syndromic deafness. However, putative nuclear modifier gene(s) have been proposed to regulate the phenotypic expression of this mutation. In yeast, the mutant alleles of MTO1, encoding a mitochondrial protein, manifest respiratory-deficient phenotype only when coupled with the mitochondrial 15 S rRNA P(R)454 mutation corresponding to human A1555G mutation. This suggests that the MTO1-like modifier gene may influence the phenotypic expression of human A1555G mutation. Here we report the identification of full-length cDNA and elucidation of genomic organization of the human MTO1 homolog. Human Mto1 is an evolutionarily conserved protein that implicates a role in the mitochondrial tRNA modification. Functional conservation of this protein is supported by the observation that isolated human MTO1 cDNA can complement the respiratory deficient phenotype of yeast mto1 cells carrying P(R)454 mutation. MTO1 is ubiquitously expressed in various tissues, but with a markedly elevated expression in tissues of high metabolic rates including cochlea. These observations suggest that human MTO1 is a structural and functional homolog of yeast MTO1. Thus, it may play an important role in the pathogenesis of deafness-associated A1555G mutation in 12 S rRNA gene or mutations in tRNA genes.