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

Gene ID: 4549, updated on 2-Nov-2024

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, Nov 2024]
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Genomic context

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See MT-RNR1 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 (648..1601)
RS_2024_09 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. Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss. Lu J, et al. Mitochondrion, 2010 Jun. PMID 20100600, Free PMC Article
  2. Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family. Xing G, et al. Biochem Biophys Res Commun, 2006 Jun 16. PMID 16650816
  3. 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. Young WY, et al. Am J Med Genet A, 2006 Oct 15. PMID 16955413
  4. [Screening of the mitochondrial 12S rRNA (MTRNR1) gene in probands with sensorineural hearing loss]. Cirçir YE, et al. Kulak Burun Bogaz Ihtis Derg, 2007. PMID 17527057
  5. [Research on mitochondrial DNA T1095C gene variation in military noise-induced hearing loss]. Qu L, et al. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2010 May. PMID 20669660

See all (122) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population.
    Title: Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population.
  2. 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.
  3. Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing.
    Title: Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing.
  4. MOTS-c promotes muscle differentiation in vitro.
    Title: MOTS-c promotes muscle differentiation in vitro.
  5. 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.
  6. 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.
  7. MOTS-c reduces myostatin and muscle atrophy signaling.
    Title: MOTS-c reduces myostatin and muscle atrophy signaling.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (61)

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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