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MT-TK mitochondrially encoded tRNA lysine [ Homo sapiens (human) ]

Gene ID: 4566, updated on 10-Oct-2023

Summary

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Official Symbol
MT-TKprovided by HGNC
Official Full Name
mitochondrially encoded tRNA lysineprovided by HGNC
Primary source
HGNC:HGNC:7489
See related
MIM:590060; AllianceGenome:HGNC:7489
Gene type
tRNA
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MTTK; TRNK
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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 (8295..8364)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (8295..8364)

Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene tRNA-Asp Neighboring gene cytochrome c oxidase subunit II Neighboring gene ATP synthase F0 subunit 8 Neighboring gene ATP synthase F0 subunit 6 Neighboring gene cytochrome c oxidase subunit III

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 MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome. Štufková H, et al. Genes (Basel), 2022 Jul 14. PMID 35886028, Free PMC Article
  2. Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry. Altmann J, et al. J Neurol, 2016 May. PMID 26995359
  3. Familial clustering strongly suggests that the phenotypic variation of the 8344 A>G lys mitochondrial tRNA mutation is encoded in cis. Kazakos K, et al. Ann Hum Genet, 2012 Jul. PMID 22681518
  4. Human tRNA(Lys3)(UUU) is pre-structured by natural modifications for cognate and wobble codon binding through keto-enol tautomerism. Vendeix FA, et al. J Mol Biol, 2012 Mar 2. PMID 22227389, Free PMC Article
  5. Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study. Virgilio R, et al. J Neurol Sci, 2009 Jun 15. PMID 19278689

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome.
    Title: A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome.
  2. Study further broadens the clinical spectrum of the m.8344A>G mutation, document the large clinical variability between carriers of the same mutation, even within families and indicate an overlap of the phenotype with other mitochondrial DNA-associated syndromes
    Title: Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.
  3. provides evidence toward the pathogenicity of the m.8348A>G mutation and suggest that m.5628T>C is probably a neutral polymorphism.
    Title: The mutations m.5628T>C and m.8348A>G in single muscle fibers of a patient with chronic progressive external ophthalmoplegia.
  4. study of a Greek family that includes seven symptomatic cases of 8344 A>G lys mitochondrial tRNA mutation; clustering of unusual manifestations in this kindred suggests that much of the phenotypic variability of 8344 A>G is determined by mitochondrially encoded modifiers in cis
    Title: Familial clustering strongly suggests that the phenotypic variation of the 8344 A>G lys mitochondrial tRNA mutation is encoded in cis.
  5. The results unambiguously demonstrate that modifications pre-structure the anticodon as a key prerequisite for efficient and accurate recognition of cognate and wobble codons by transfer RNA lysine.
    Title: Human tRNA(Lys3)(UUU) is pre-structured by natural modifications for cognate and wobble codon binding through keto-enol tautomerism.
  6. This is the first reported case of a double-point mutation in mtDNA, tRNA(Lys) and tRNA(Leu) genes, both of which were heteroplasmic and pathogenic for MERRF/MELAS overlap syndrome.
    Title: MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.
  7. we describe the clinical and molecular features of a new large multigenerational family with the G8363A mtDNA tRNA(Lys) gene mutation and we review the literature of cases with this mutation
    Title: Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study.
  8. We describe a typical MERRF (A8344G) mutation of the mitochondrial DNA associated with depressive mood disorders.
    Title: The typical MERRF (A8344G) mutation of the mitochondrial DNA associated with depressive mood disorders.
  9. We describe a A8344G tRNALys mutation associated with recurrent brain stem stroke-like episodes in a 17 year-old girl.
    Title: A8344G tRNALys mutation associated with recurrent brain stem stroke-like episodes.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
Submit: New GeneRIF Correction See all GeneRIFs (15)

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: 1197

Gene LinkOut

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