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MT-TI mitochondrially encoded tRNA isoleucine [ Homo sapiens (human) ]

Gene ID: 4565, updated on 12-Sep-2024

Summary

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Official Symbol
MT-TIprovided by HGNC
Official Full Name
mitochondrially encoded tRNA isoleucineprovided by HGNC
Primary source
HGNC:HGNC:7488
See related
MIM:590045; AllianceGenome:HGNC:7488
Gene type
tRNA
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MTTI; TRNI
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Genomic context

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See MT-TI in Genome Data Viewer
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) MT (non-nuclear) NC_012920.1 (4263..4331)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (4263..4331)

Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene tRNA-Leu Neighboring gene NADH dehydrogenase subunit 1 Neighboring gene tRNA-Gln Neighboring gene tRNA-Met Neighboring gene NADH dehydrogenase subunit 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine. Cox R, et al. Mitochondrion, 2012 Mar. PMID 21982779
  2. A cluster of metabolic defects caused by mutation in a mitochondrial tRNA. Wilson FH, et al. Science, 2004 Nov 12. PMID 15498972, Free PMC Article
  3. [Search for mitochondrial DNA T4291C mutation in Hungarian patients with metabolic syndrome]. Maász A, et al. Orv Hetil, 2006 Apr 16. PMID 16734181
  4. Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle. Smits BW, et al. J Neurol, 2007 Nov. PMID 17965958
  5. A novel mitochondrial DNA tRNAIle (m.4322dupC) mutation associated with idiopathic dilated cardiomyopathy. Mahjoub S, et al. Diagn Mol Pathol, 2007 Dec. PMID 18043288

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A deafness-associated tRNA mutation caused pleiotropic effects on the m1G37 modification, processing, stability and aminoacylation of tRNAIle and mitochondrial translation.
    Title: A deafness-associated tRNA mutation caused pleiotropic effects on the m1G37 modification, processing, stability and aminoacylation of tRNAIle and mitochondrial translation.
  2. The study demonstrated the role of a deafness susceptibility allele (m.4317A-->G mutation) in the tRNAIle gene in the phenotypic manifestation of the deafness-associated m.1555A-->G mutation. The m.4317A-->G mutation altered both structure and function of tRNAIle.
    Title: Contribution of the tRNA(Ile) 4317A→G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A→G mutation.
  3. EP4 enhancement aggravated imbalanced mesangial cell proliferation stimulated by TGFbeta1 and GS of mice treated with 5/6 nephrectomy through the Smad and mitogenactivated protein kinase pathways.
    Title: Mitochondrial tRNAIle A4317G mutation may be associated with hearing impairment in a Han Chinese family.
  4. Data indicate that the 4329C> G point mutation in mitochondrial transfer RNA genes tRNA(Ile) and tRNA(Gln) probably contributed to the pathogenesis of hypertension, possibly in association with other modifying factors.
    Title: [Mitochondrial DNA mutation associated with hypertension in tRNA(Ile) and tRNA(Gln) genes].
  5. We describe a novel MTTI transition mutation at nucleotide position m.4282G>A associated with a chronic progressive external ophthalmoplegia (CPEO) plus phenotype.
    Title: Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype.
  6. The C4329G point mutation in tRNAIle and tRNAGln was involved in the pathogenesis of hypertension, perhaps in association with other modifying factors.
    Title: Molecular characterization of a Chinese family carrying a novel C4329A mutation in mitochondrial tRNAIle and tRNAGln genes.
  7. These results suggest that m.4296G>A is pathogenic in humans, and that the phenotype related to this change includes Leigh-like syndrome in adolescence with parkinsonism and hypogonadism.
    Title: Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA.
  8. The authors conclude that there is strong evidence to classify m.4296G>A as a pathogenic mutation causing Leigh syndrome.
    Title: Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine.
  9. These results suggest that structural perturbations reduce efficiency of tRNA(Ile) precursor 3' end processing and contribute to the molecular pathomechanism of this mutation to progressive external ophthalmoplegia.
    Title: Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia.
  10. data provide direct evidence that mitochondrial dysfunction caused by mitochondrial tRNA(Ile) 4263A>G mutation is involved in essential hypertension
    Title: Maternally inherited essential hypertension is associated with the novel 4263A>G mutation in the mitochondrial tRNAIle gene in a large Han Chinese family.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
MERRF syndrome
MedGen: C0162672 OMIM: 545000 GeneReviews: Primary Mitochondrial Disorders Overview, MERRF
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

  • NAR: 0997

Gene LinkOut

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Other Literature Sources
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Research Materials