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MT-RNR1 Gene Record

  • Summary
  • Interactions
  • Claims
  • MT-RNR1 4549

    Alternate Names:

    4549
    S-RRNA
    MT-RNR1
    MTRNR1
    561000
    7470
    ENSG00000211459
    PA31274
    A0A0C5B5G6
    Mitochondrial-derived peptide MOTS-c

    Gene Info:

    Gene Biotype MT_RRNA
    (0 More Sources)

    Gene Categories: Category Details

    KINASE

    Publications:

    Shohat M et al., 1999, Aminoglycoside-induced deafness associated with the mitochondrial DNA mutation A1555G., Am J Otolaryngol
    Tono T et al., 1998, Cochlear implantation in a patient with profound hearing loss with the A1555G mitochondrial mutation., Am J Otol
    Casano RA et al., 1998, Hearing loss due to the mitochondrial A1555G mutation in Italian families., Am J Med Genet
    Fischel-Ghodsian N et al., 1997, Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity., Am J Otolaryngol
    Usami S et al., 1997, Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation., Laryngoscope
    Fischel-Ghodsian N et al., 1993, Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity., Am J Otolaryngol
    Prezant TR et al., 1993, Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness., Nat Genet
    Abusamra R et al., 2016, Is deafness mutation screening required in cystic fibrosis patients?, Paediatr Respir Rev
    Ding Y et al., 2016, Allele-specific PCR for detecting the deafness-associated mitochondrial 12S rRNA mutations., Gene
    Jing W et al., 2015, Mitochondrial mutations associated with aminoglycoside ototoxicity and hearing loss susceptibility identified by meta-analysis., J Med Genet
    Al-Malky G et al., 2014, Normal hearing in a child with the m.1555A>G mutation despite repeated exposure to aminoglycosides. Has the penetrance of this pharmacogenetic interaction been overestimated?, Int J Pediatr Otorhinolaryngol
    Shen SS et al., 2012, Heteroplasmy levels of mtDNA1555A>G mutation is positively associated with diverse phenotypes and mutation transmission in a Chinese family., Biochem Biophys Res Commun
    Men M et al., 2011, Unique penetrance of hearing loss in a five-generation Chinese family with the mitochondrial 12S rRNA 1555A > G mutation., Acta Otolaryngol
    Ealy M et al., 2011, The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population., Laryngoscope
    Johnson RF et al., 2010, Genetic mutations and aminoglycoside-induced ototoxicity in neonates., Otolaryngol Head Neck Surg
    Rydzanicz M et al., 2010, Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss., Biochem Biophys Res Commun
    Kato T et al., 2010, Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss., J Hum Genet
    Zhu Y et al., 2009, Mitochondrial haplotype and phenotype of 13 Chinese families may suggest multi-original evolution of mitochondrial C1494T mutation., Mitochondrion
    Ding Y et al., 2009, Mitochondrial tRNA(Glu) A14693G variant may modulate the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in a Han Chinese family., J Genet Genomics
    Conrad DJ et al., 2008, Frequency of mitochondrial 12S ribosomal RNA variants in an adult cystic fibrosis population., Pharmacogenet Genomics
    Konings A et al., 2008, Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients., Mitochondrion
    Ballana E et al., 2008, Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations., Hum Mutat
    Yuan H et al., 2007, Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA(Ser(UCN)) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss., Biochem Biophys Res Commun
    Lévêque M et al., 2007, Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip., Eur J Hum Genet
    Han D et al., 2007, The mitochondrial tRNA(Ala) T5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing loss., Biochem Biophys Res Commun
    Tang X et al., 2007, Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation., Gene
    Young WY et al., 2006, Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss., Am J Med Genet A
    Dai P et al., 2006, Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA T1095C mutation in three Chinese families., Biochem Biophys Res Commun
    Bravo O et al., 2006, Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene., Biochem Biophys Res Commun
    Ballana E et al., 2006, Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment., Biochem Biophys Res Commun
    Wang Q et al., 2006, Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation., Biochem Biophys Res Commun
    Dai P et al., 2006, Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness., Biochem Biophys Res Commun
    Zhao L et al., 2005, Clinical evaluation and mitochondrial DNA sequence analysis in two Chinese families with aminoglycoside-induced and non-syndromic hearing loss., Biochem Biophys Res Commun
    Kobayashi K et al., 2005, Genetic features, clinical phenotypes, and prevalence of sensorineural hearing loss associated with the 961delT mitochondrial mutation., Auris Nasus Larynx
    Young WY et al., 2005, Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation., Biochem Biophys Res Commun
    Zhao L et al., 2004, Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation., Biochem Biophys Res Commun
    Noguchi Y et al., 2004, Audiovestibular findings in patients with mitochondrial A1555G mutation., Laryngoscope
    Li R et al., 2004, Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss., Am J Med Genet A
    Yamasoba T et al., 2002, Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene., Neuromuscul Disord
    Kupka S et al., 2002, Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients., Hum Mutat
    Tessa A et al., 2001, Maternally inherited deafness associated with a T1095C mutation in the mDNA., Eur J Hum Genet
    Tono T et al., 2001, Different clinical characteristics of aminoglycoside-induced profound deafness with and without the 1555 A-->G mitochondrial mutation., ORL J Otorhinolaryngol Relat Spec
    Thyagarajan D et al., 2000, A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy., Ann Neurol
  • KANAMYCIN   MT-RNR1

    Interaction Score: 453.42

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    9950117 9831149 9779807 9164619 9111378 8285309 7689389 27427311 27397648 25515069 24703164 22475488 21504270 21495045 20416460 20353758 20111055 19682603 19376484 18830133 18790089 17999439 17698030 17637808 17434445 17341440 16955413 16875663 16631122 16458854 16380089 16375862 16168391 15917167 15708009 15555598 14755216 14699607 12031626 11857751 11313749 11174059 11079536


    Sources:
    PharmGKB

  • TOBRAMYCIN   MT-RNR1

    Interaction Score: 453.42

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    24703164 22475488 21504270 21495045 20416460 20353758 20111055 19682603 19376484 18830133 18790089 17999439 17698030 17637808 17434445 17341440 16955413 16875663 16631122 16458854 16380089 16375862 16168391 15917167 15708009 15555598 14755216 14699607 12031626 11857751 11313749 11174059 11079536 9950117 9831149 9779807 9164619 9111378 8285309 7689389 27427311 27397648 25515069


    Sources:
    PharmGKB

  • STREPTOMYCIN   MT-RNR1

    Interaction Score: 226.71

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    9950117 9831149 9779807 9164619 9111378 8285309 7689389 27427311 27397648 25515069 24703164 22475488 21504270 21495045 20416460 20353758 20111055 19682603 19376484 18830133 18790089 17999439 17698030 17637808 17434445 17341440 16955413 16875663 16631122 16458854 16380089 16375862 16168391 15917167 15708009 15555598 14755216 14699607 12031626 11857751 11313749 11174059 11079536


    Sources:
    PharmGKB

  • AMIKACIN   MT-RNR1

    Interaction Score: 90.68

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    9950117 9831149 9779807 9164619 9111378 8285309 7689389 27427311 27397648 25515069 24703164 22475488 21504270 21495045 20416460 20353758 20111055 19682603 19376484 18830133 18790089 17999439 17698030 17637808 17434445 17341440 16955413 16875663 16631122 16458854 16380089 16375862 16168391 15917167 15708009 15555598 14755216 14699607 12031626 11857751 11313749 11174059 11079536


    Sources:
    PharmGKB

  • NEOMYCIN   MT-RNR1

    Interaction Score: 90.68

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    9950117 9831149 9779807 9164619 9111378 8285309 7689389 27427311 27397648 25515069 24703164 22475488 21504270 21495045 20416460 20353758 20111055 19682603 19376484 18830133 18790089 17999439 17698030 17637808 17434445 17341440 16955413 16875663 16631122 16458854 16380089 16375862 16168391 15917167 15708009 15555598 14755216 14699607 12031626 11857751 11313749 11174059 11079536


    Sources:
    PharmGKB

  • GENTAMICIN   MT-RNR1

    Interaction Score: 21.59

    Interaction Types & Directionality:
    n/a

    Interaction Info:

    PMIDs:
    9950117 9831149 9779807 9164619 9111378 8285309 7689389 27427311 27397648 25515069 24703164 22475488 21504270 21495045 20416460 20353758 20111055 19682603 19376484 18830133 18790089 17999439 17698030 17637808 17434445 17341440 16955413 16875663 16631122 16458854 16380089 16375862 16168391 15917167 15708009 15555598 14755216 14699607 12031626 11857751 11313749 11174059 11079536


    Sources:
    PharmGKB

  • Ensembl: ENSG00000211459

    • Version: 101_38

    Alternate Names:
    MT-RNR1 Ensembl Gene Name

    Gene Info:
    Gene Biotype MT_RRNA

    Publications:

  • PharmGKB: MT-RNR1

    • Version: 18-August-2020

    Alternate Names:
    PA31274 PharmGKB ID

    Gene Info:

    Publications:
    Conrad DJ et al., 2008, Frequency of mitochondrial 12S ribosomal RNA variants in an adult cystic fibrosis population., Pharmacogenet Genomics
    Dai P et al., 2006, Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA T1095C mutation in three Chinese families., Biochem Biophys Res Commun
    Fischel-Ghodsian N et al., 1997, Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity., Am J Otolaryngol

  • Pharos: MT-RNR1

    • Version: 01-February-2022

    Alternate Names:
    Mitochondrial-derived peptide MOTS-c Gene Name
    A0A0C5B5G6 UniProt ID

    Gene Info:

    Gene Categories:
    KINASE

    Publications:

Disclaimer: This resource is intended for purely research purposes. It should not be used for emergencies or medical or professional advice.

A finding of a drug-gene interaction or potentially druggable category does not necessarily indicate effectiveness (or lack thereof) of any drug or treatment regimen. A finding of no interaction or no potentially druggable category does not necessarily indicate lack of effectiveness of any drug or treatment regimen. Drug-gene interactions or potentially druggable categories are not presented in ranked order of potential or predicted efficacy.

The dgidb.org website does not provide any medical or healthcare products, services or advice, and is not for medical emergencies or urgent situations. IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY, CALL YOUR DOCTOR OR 911 IMMEDIATELY. Information contained on this website is not a substitute for a doctor's medical judgment or advice. We recommend that you discuss your specific, individual health concerns with your doctor or health care professional.

DGIdb (v4.2.0 - sha1 afd9f30b) • Last updated 2020-10-21