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    RNR1 s-rRNA [ Homo sapiens ]

    Gene ID: 4549, updated on 14-Apr-2012
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    Summary

    Gene symbol
    RNR1
    Gene description
    s-rRNA
    Primary source
    HGNC:7470
    See related
    MIM:561000
    Gene type
    rRNA
    RNA name
    s-rRNA
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MTRNR1
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    Genomic context

    Location :
    country: United Kingdom: Great Britain, isolation source: caucasian, tissue type: placenta
    Sequence :
    Chromosome: MT; NC_012920.1 (648..1601)
    See RNR1 in Epigenomics, MapViewer

    Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene tRNA Neighboring gene tRNA Neighboring gene l-rRNA

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. [Mutational screening of the mitochondrial 12S rRNA gene in Polish patients with aminoglycoside-induced hearing loss]. Rydzanicz M. Otolaryngol Pol, 2011 Jul-Aug. PMID 22000150.
    2. Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics. Shen Z, et al. J Transl Med, 2011 Jan 4. PMID 21205314.
    3. GJB2 and MTRNR1 contributions in children with hearing impairment from Northern Cameroon. Trotta L, et al. Int J Audiol, 2011 Feb. PMID 21114417.
    4. [Study of mtDNA 12S rRNA A1555G, GJB2, GJB3 gene mutation in Uighur and Han people with hereditary nonsyndromic hearing loss in Xinjiang]. Li YH, et al. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2010 Aug. PMID 21055240.
    5. Sensorineural hearing loss in a pediatric population: association of congenital cytomegalovirus infection with intracranial abnormalities. Kimani JW, et al. Arch Otolaryngol Head Neck Surg, 2010 Oct. PMID 20956747.

    See all (63) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Mutational screening of the mitochondrial 12S rRNA gene in Polish patients with aminoglycoside-induced hearing loss
      Title: [Mutational screening of the mitochondrial 12S rRNA gene in Polish patients with aminoglycoside-induced hearing loss].
    2. In Xinjiang, the mtDNA 12SRNA A1555G mutation rate was high in Uighur and Han people with hereditary nonsyndromic hearing loss
      Title: [Study of mtDNA 12S rRNA A1555G, GJB2, GJB3 gene mutation in Uighur and Han people with hereditary nonsyndromic hearing loss in Xinjiang].
    3. The T1095C mutation in 12S rRNA is correlated with military noise induced-hearing loss.
      Title: [Research on mitochondrial DNA T1095C gene variation in military noise-induced hearing loss].
    4. The incidence of mtDNA A1555G in Uigur patients is lower than the average level of the overall Chinese deaf population.
      Title: [Analysis of mtDNA 12SrRNA A1555G mutations of Uigur patients with nonsyndromic hereditary hearing loss in Xinjiang].
    5. There was a high proportion of hereditary hearing impairment caused by mtDNA 12SrRNA A1555G mutation in 5 provinces of northwest region of China.
      Title: [Molecular etiology of 573 patients with nonsyndromic hearing loss in 5 provinces of northwest region of China].
    6. single variant that may be pathogenic found
      Title: GJB2 and MTRNR1 contributions in children with hearing impairment from Northern Cameroon.
    7. The mitochondrial 12S rRNA is the hot spot for mutations associated with aminoglycoside ototoxicity.
      Title: Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics.
    8. The m.827A>G sequence variant was found in both deaf and normal subjects and is unlikely to have a pathogenic role in hereditary deafness.
      Title: Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss.
    9. Large-scale screening of mitochondrial DNA m.1555A>G mutation in 2417 deaf-mute students in northwest of China.
      Title: Analysis of a large-scale screening of mitochondrial DNA m.1555A>G mutation in 2417 deaf-mute students in northwest of China.
    10. Observational study of genetic testing. (HuGE Navigator)
      Title: Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.
    Submit: New GeneRIF Correction See all (31)
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    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

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    General gene information

    Genotypes

    Pathways from BioSystems

    • 12S rRNA; 12S ribosomal RNA
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

      Supplemental Content