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MT-TM mitochondrially encoded tRNA methionine [ Homo sapiens (human) ]

Gene ID: 4569, updated on 10-Oct-2023

Summary

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Official Symbol
MT-TMprovided by HGNC
Official Full Name
mitochondrially encoded tRNA methionineprovided by HGNC
Primary source
HGNC:HGNC:7492
See related
MIM:590065; AllianceGenome:HGNC:7492
Gene type
tRNA
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MTTM; TRNM
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Genomic context

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Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) MT (non-nuclear) NC_012920.1 (4402..4469)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (4402..4469)

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

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. A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes. Lim AZ, et al. Mitochondrion, 2019 Jul. PMID 31022467, Free PMC Article
  2. A hypertension-associated mitochondrial DNA mutation introduces an m(1)G37 modification into tRNA(Met), altering its structure and function. Zhou M, et al. J Biol Chem, 2018 Jan 26. PMID 29222331, Free PMC Article
  3. Molecular characterization of mitochondrial transferRNAGln and transferRNAMet A4401G mutations in a Chinese family with hypertension. Yu SS, et al. Mol Med Rep, 2017 Apr. PMID 28259969
  4. The mitochondrial tRNA(Met) 4454T > C variant may not be associated with essential hypertension in Han Chinese population. Wang Y, et al. Mitochondrial DNA, 2014 Apr. PMID 23627313
  5. Mitochondrial tRNAMet mutation is associated with clinical and biochemical characteristics in primary hypertension. Lu CQ, et al. Mol Med Rep, 2013 Jun. PMID 23563319

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Next-generation sequencing of the mitochondrial genome revealed a novel m.4412G>A variant at high heteroplasmy levels in muscle that fulfils all accepted criteria for pathogenicity including segregation within single muscle fibres, thus broadening the genotypic and phenotypic landscape of mitochondrial tRNA-related disease.
    Title: A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes.
  2. findings suggested the pathogenic mechanism leading to an impaired oxidative phosphorylation in cells carrying the hypertension-associated m.4435A-->G mutation in the tRNAMet gene.
    Title: A hypertension-associated mitochondrial DNA mutation introduces an m(1)G37 modification into tRNA(Met), altering its structure and function.
  3. A4401G mutations in the glycineand methioninetRNA genes are reported to be pathogenic in a family with hypertension.
    Title: Molecular characterization of mitochondrial transferRNAGln and transferRNAMet A4401G mutations in a Chinese family with hypertension.
  4. The mitochondrial tRNA(Met) 4454T > C variant may not have an effect on clinical expression of essential hypertension.
    Title: The mitochondrial tRNA(Met) 4454T > C variant may not be associated with essential hypertension in Han Chinese population.
  5. A maternal history of hypertension was present in 57.1% of patients with tRNAMet mutations and only 20.0% of patients without mutations.
    Title: Mitochondrial tRNAMet mutation is associated with clinical and biochemical characteristics in primary hypertension.
  6. The occurrence of the 4435A>G tRNAMet mutation in two genetically unrelated families affected by hypertension indicates that this mutation is involved in hypertension.
    Title: The tRNAMet 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree.
  7. The unique post-transcriptional modification, 5-formylcytidine, at the wobble position 34 (f5C34) enabled P-site codon binding to these normally isoleucine codons, expanding codon recognition to the non-traditional AUU and AUC as well as AUA.
    Title: The human mitochondrial tRNAMet: structure/function relationship of a unique modification in the decoding of unconventional codons.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
  9. Approximately 30% reductions in the steady-state levels of tRNA(Met) and tRNA(Gln) were observed in 2 lymphoblastoid cell lines carrying the 4401A>G mutation compared with 2 control cell lines lacking this mutation.
    Title: Failures in mitochondrial tRNAMet and tRNAGln metabolism caused by the novel 4401A>G mutation are involved in essential hypertension in a Han Chinese Family.
  10. The noncoding mitochondrial sequence alteration (A4401G) at the junction of tRNA(Met) and tRNA(Gln) alters mitochondrial function, implicating this mutation in the pathogenesis of left ventricular hypertrophy in Chinese hypertensives.
    Title: A mitochondrial mutation A4401G is involved in the pathogenesis of left ventricular hypertrophy in Chinese hypertensives.
Submit: New GeneRIF Correction See all GeneRIFs (12)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

  • NAR: 1297

Gene LinkOut

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