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    MT-TH mitochondrially encoded tRNA histidine [ Homo sapiens (human) ]

    Gene ID: 4564, updated on 12-Sep-2024

    Summary

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    Official Symbol
    MT-THprovided by HGNC
    Official Full Name
    mitochondrially encoded tRNA histidineprovided by HGNC
    Primary source
    HGNC:HGNC:7487
    See related
    MIM:590040; AllianceGenome:HGNC:7487
    Gene type
    tRNA
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MTTH; TRNH
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    Genomic context

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    See MT-TH 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 (12138..12206)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (12138..12206)

    Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene tRNA-Arg Neighboring gene NADH dehydrogenase subunit 4L Neighboring gene NADH dehydrogenase subunit 4 Neighboring gene tRNA-Ser Neighboring gene tRNA-Leu

    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 deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential. Gong S, et al. Nucleic Acids Res, 2014 Jul. PMID 24920829, Free PMC Article
    2. Whole mitochondrial genome analysis in Chinese patients with keratoconus. Xu L, et al. Mol Vis, 2021. PMID 34012229, Free PMC Article
    3. Two novel mutations in COII and tRNA(His) mitochondrial genes in asthenozoospermic infertiles men. Siwar BG, et al. Biochem Biophys Res Commun, 2014 Jul 18. PMID 24931671
    4. MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease. Bhardwaj A, et al. BMC Bioinformatics, 2009 Aug 27. PMID 19758471, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Whole mitochondrial genome analysis in Chinese patients with keratoconus.
      Title: Whole mitochondrial genome analysis in Chinese patients with keratoconus.
    2. We also detected in 4 asthenospermic patients a double novels mutations, the first was found in COXII gene (m.8021 G/A) that was absent in normospermic infertile men.
      Title: Two novel mutations in COII and tRNA(His) mitochondrial genes in asthenozoospermic infertiles men.
    3. The findings demonstrate the pathogenic mechanism leading to an impaired oxidative phosphorylation in cybrid cell lines carrying the deafness-associated tRNAHis 12201T>C mutation.
      Title: A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential.
    4. 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

    Phenotypes

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    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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    • NAR: 0897

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