MT-TS1 mitochondrially encoded tRNA serine 1 (UCN) [Homo sapiens (human)] - Gene

Summary

Official Symbol: MT-TS1provided by HGNC
Official Full Name: mitochondrially encoded tRNA serine 1 (UCN)provided by HGNC
Primary source: HGNC:HGNC:7497
See related: MIM:590080; AllianceGenome:HGNC:7497
Gene type: tRNA
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MTTS1; TRNS1
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Genomic context

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	MT (non-nuclear)	NC_012920.1 (7446..7514, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	MT (non-nuclear)	NC_012920.1 (7446..7514, complement)

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?

Mitochondrial tRNA(Ser(UCN)) 7471delC may be a novel mutation associated with maternally transmitted hypertension.
Title: Mitochondrial tRNA(Ser(UCN)) 7471delC may be a novel mutation associated with maternally transmitted hypertension.
These results demonstrated that the m.7505A>G variant affected both structure and function of tRNA(Ser(UCN)) and consequently altered mitochondrial function. The findings highlighted critical insights into the pathophysiology of maternally inherited deafness, which is manifested by the aberrant tRNA metabolism.
Title: A deafness-associated mitochondrial DNA mutation altered the tRNA(Ser(UCN)) metabolism and mitochondrial function.
The authors results suggest that, in addition to sensorineural HI, the m.7510T>C mutation is associated with a spectrum of mitochondrial diseases including migraine, epilepsy, cognitive impairment, ataxia, and tremor, and with evidence of mitochondrial myopathy .
Title: The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype.
One of the mitochondrial variants responsible for hearing loss is the m.7511T>C mutation located in the mitochondrially encoded tRNA serine 1 (UCN) gene. This is the first report on central European patients harboring the m.7511T>C mutation which reveals that the m.7511T>C may be important when diagnosing patients with maternally inherited hearing loss.
Title: Application of next‑generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss.
Mitochondrial COI/tRNASer(UCN) G7444A mutation is associated with aminoglycoside-induced and non-syndromic hearing impairment.
Title: Mitochondrial COI/tRNASer(UCN) G7444A mutation may be associated with aminoglycoside-induced and non-syndromic hearing impairment.
PCDH15 p.Asp1010Gly variant probably modified the phenotypic expression of the 7511T>C mutation in MT-TS1
Title: Mutation in PCDH15 may modify the phenotypic expression of the 7511T>C mutation in MT-TS1 in a Chinese Han family with maternally inherited nonsyndromic hearing loss.
Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation.
Title: Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation.
3 deaf probands presented a novel variant, m.7462C>T, which was absent from the same control sample of 306 individuals. It might be a novel pathogenic mutation.
Title: Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss.
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.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Involvement of mitochondrial DNA sequence variations and respiratory activity in late complications following radiotherapy.

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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
Aminoglycoside-induced deafness MedGen: C1838854 OMIM: 580000 GeneReviews: Nonsyndromic Hearing Loss and Deafness, Mitochondrial, Genetic Hearing Loss Overview	Compare labs
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke MedGen: C0162671 OMIM: 540000 GeneReviews: Primary Mitochondrial Disorders Overview, MELAS	Compare labs