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MT-TA mitochondrially encoded tRNA alanine [ Homo sapiens (human) ]

Gene ID: 4553, updated on 10-Oct-2023

Summary

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Official Symbol
MT-TAprovided by HGNC
Official Full Name
mitochondrially encoded tRNA alanineprovided by HGNC
Primary source
HGNC:HGNC:7475
See related
MIM:590000; AllianceGenome:HGNC:7475
Gene type
tRNA
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MTTA; TRNA
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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 (5587..5655, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (5587..5655, complement)

Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene NADH dehydrogenase subunit 2 Neighboring gene tRNA-Trp Neighboring gene tRNA-Asn Neighboring gene tRNA-Cys Neighboring gene tRNA-Tyr

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. The Mitochondrial tRNA(Ala) T5655C Mutation May Modulate the Phenotypic Expression of tRNA(Met) and tRNA(Gln) A4401G Mutation in a Han Chinese Family With Essential Hypertension. Xu Y, et al. Int Heart J, 2017 Feb 7. PMID 28111408
  2. A Hypertension-Associated tRNAAla Mutation Alters tRNA Metabolism and Mitochondrial Function. Jiang P, et al. Mol Cell Biol, 2016 Jul 15. PMID 27161322, Free PMC Article
  3. Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy. Lehmann D, et al. Eur J Hum Genet, 2015 Dec. PMID 25873012, Free PMC Article
  4. Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect. Kirino Y, et al. Hum Mol Genet, 2006 Mar 15. PMID 16446307
  5. Motor neuron disease in a patient with a mitochondrial tRNAIle mutation. Borthwick GM, et al. Ann Neurol, 2006 Mar. PMID 16358336

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Data provide evidence for the association of the tRNA(Ala) 5655A --> G mutation with hypertension causing increases in the production of reactive oxygen species .
    Title: A Hypertension-Associated tRNAAla Mutation Alters tRNA Metabolism and Mitochondrial Function.
  2. combination of T5655C and A4401G mutations in mitochondrial tRNA genes may account for high penetrance and expressivity of hypertension in Chinese family
    Title: The Mitochondrial tRNA(Ala) T5655C Mutation May Modulate the Phenotypic Expression of tRNA(Met) and tRNA(Gln) A4401G Mutation in a Han Chinese Family With Essential Hypertension.
  3. novel heteroplasmic mutations in the mt-tRNAAla with high thresholds for disease expression were identified in two isolated myopathy patients.
    Title: Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.
  4. 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.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
  6. Acquisition of the wobble modification in another isoacceptor tRNA is critical for suppressing the MELAS mutation, highlighting the primary role of the UUG decoding deficiency in the molecular pathogenesis of MELAS syndrome.
    Title: Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect.
  7. There were atypical neuropathological features and genetic studies identified a pathogenic, heteroplasmic mitochondria tRNA(Ile) (4274T>C) mutation.
    Title: Motor neuron disease in a patient with a mitochondrial tRNAIle mutation.
Submit: New GeneRIF Correction

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: 0097

Gene LinkOut

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