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MT-RNR1 mitochondrially encoded 12S RNA [ Homo sapiens (human) ]

Gene ID: 4549, updated on 10-Oct-2023

Summary

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Official Symbol
MT-RNR1provided by HGNC
Official Full Name
mitochondrially encoded 12S RNAprovided by HGNC
Primary source
HGNC:HGNC:7470
See related
MIM:561000; AllianceGenome:HGNC:7470
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; RNR1
Summary
Enables DNA binding activity and DNA-binding transcription factor binding activity. Involved in several processes, including osteoblast proliferation; regulation of carbohydrate utilization; and regulation of phosphate metabolic process. Located in extracellular space; mitochondrion; and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
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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 (648..1601)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (648..1601)

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

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. Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing. Huang Q, et al. J Clin Lab Anal, 2023 Jan. PMID 36579624, Free PMC Article
  2. Impact of an MT-RNR1 Gene Polymorphism on Hepatocellular Carcinoma Progression and Clinical Characteristics. Lin YH, et al. Int J Mol Sci, 2021 Jan 23. PMID 33498721, Free PMC Article
  3. A pro-diabetogenic mtDNA polymorphism in the mitochondrial-derived peptide, MOTS-c. Zempo H, et al. Aging (Albany NY), 2021 Jan 19. PMID 33468709, Free PMC Article
  4. The prevalence of mitochondrial mutations associated with aminoglycoside-induced deafness in ethnic Latvian population: the appraisal of the evidence. Igumnova V, et al. J Hum Genet, 2019 Mar. PMID 30523288
  5. PharmGKB summary: very important pharmacogene information for MT-RNR1. Barbarino JM, et al. Pharmacogenet Genomics, 2016 Dec. PMID 27654872, Free PMC Article

See all (120) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of new variants in MTRNR1 and MTRNR2 genes using whole mitochondrial genome sequencing in a Taiwanese family with MERRF (myoclonic epilepsy with ragged-red fibers) syndrome.
    Title: Identification of new variants in MTRNR1 and MTRNR2 genes using whole mitochondrial genome sequencing in a Taiwanese family with MERRF (myoclonic epilepsy with ragged-red fibers) syndrome.
  2. Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing.
    Title: Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing.
  3. MOTS-c promotes muscle differentiation in vitro.
    Title: MOTS-c promotes muscle differentiation in vitro.
  4. Impact of an MT-RNR1 Gene Polymorphism on Hepatocellular Carcinoma Progression and Clinical Characteristics.
    Title: Impact of an MT-RNR1 Gene Polymorphism on Hepatocellular Carcinoma Progression and Clinical Characteristics.
  5. A pro-diabetogenic mtDNA polymorphism in the mitochondrial-derived peptide, MOTS-c.
    Title: A pro-diabetogenic mtDNA polymorphism in the mitochondrial-derived peptide, MOTS-c.
  6. MOTS-c reduces myostatin and muscle atrophy signaling.
    Title: MOTS-c reduces myostatin and muscle atrophy signaling.
  7. The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.
    Title: The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.
  8. Heteroplasmic transition of A to G at position 1555 of MT-RNR1 gene was identified in all affected individuals co-existing with nuclear c.28G>T (p.A10S) variant in the TRMU gene, only in some patients with hereditary non-syndromic hearing loss of variable severity.
    Title: Whole exome sequencing identifies both nuclear and mitochondrial variations in an Iranian family with non-syndromic hearing loss.
  9. In this study, a total of 86 patients harbored m.1555A > G (17.00%, 86/ 506) and two patients carried m.1494C > T (0.40%, 2/506).
    Title: Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China.
  10. MTRNR1 mutation is associated with aminoglycoside-induced deafness.
    Title: The prevalence of mitochondrial mutations associated with aminoglycoside-induced deafness in ethnic Latvian population: the appraisal of the evidence.
Submit: New GeneRIF Correction See all GeneRIFs (60)

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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  • 12S rRNA; 12S ribosomal RNA

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