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

Summary

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

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_012920.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing.
Title: Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing.
MOTS-c promotes muscle differentiation in vitro.
Title: MOTS-c promotes muscle differentiation in vitro.
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.
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.
MOTS-c reduces myostatin and muscle atrophy signaling.
Title: MOTS-c reduces myostatin and muscle atrophy signaling.
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.
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.
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.

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Phenotypes

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Associated conditions

Description	Tests
Mitochondrial non-syndromic sensorineural hearing loss MedGen: C3151897 OMIM: 500008 GeneReviews: Nonsyndromic Hearing Loss and Deafness, Mitochondrial, Genetic Hearing Loss Overview	Compare labs