MT-TS1

Summary

MT-TS1 (mitochondrially encoded tRNA-Ser (UCN) 1, HGNC:7497) is a mitochondrial tRNA gene on chromosome mitochondria.

Predicted to enable triplet codon-amino acid adaptor activity. Predicted to be involved in translation.

Source: NCBI Gene 4574 — RefSeq curated summary.

At a glance

• Gene type: non-coding (Mt_tRNA) — no protein product; not a drug target. Variant/disease associations are omitted (they would be positional, from an overlapping protein-coding gene).

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7497
Approved symbol	MT-TS1
Name	mitochondrially encoded tRNA-Ser (UCN) 1
Location	mitochondria
Locus type	RNA, transfer
Status	Approved
Aliases	TRNS1
Ensembl gene	ENSG00000210151
Ensembl biotype	Mt_tRNA
OMIM	590080
Entrez	4574
RNAcentral	URS000025B782 — tRNA, 69 nt, 6 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 Mt_tRNA

ENST00000387416

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000387416 — 1 exons

Exon	Start	End
ENSE00001544487	7446	7514

Expression profiles

Bgee: expression breadth ubiquitous, 118 present calls, max score 99.98.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4167 / max 217.0966, expressed in 109 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
209550	0.4167	109

Top tissues by expression

118 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
duodenum	UBERON:0002114	99.98	gold quality
apex of heart	UBERON:0002098	99.97	gold quality
vermiform appendix	UBERON:0001154	99.96	gold quality
prefrontal cortex	UBERON:0000451	99.95	gold quality
rectum	UBERON:0001052	99.94	gold quality
right adrenal gland cortex	UBERON:0035827	99.93	gold quality
frontal cortex	UBERON:0001870	99.92	gold quality
amygdala	UBERON:0001876	99.92	gold quality
right frontal lobe	UBERON:0002810	99.92	gold quality
right adrenal gland	UBERON:0001233	99.91	gold quality
Ammon’s horn	UBERON:0001954	99.91	gold quality
placenta	UBERON:0001987	99.91	gold quality
putamen	UBERON:0001874	99.90	gold quality
nucleus accumbens	UBERON:0001882	99.90	gold quality
skeletal muscle tissue	UBERON:0001134	99.89	gold quality
caudate nucleus	UBERON:0001873	99.89	gold quality
hypothalamus	UBERON:0001898	99.88	gold quality
anterior cingulate cortex	UBERON:0009835	99.87	gold quality
fundus of stomach	UBERON:0001160	99.85	gold quality
gastrocnemius	UBERON:0001388	99.85	gold quality
substantia nigra	UBERON:0002038	99.85	gold quality
mucosa of transverse colon	UBERON:0004991	99.85	gold quality
right atrium auricular region	UBERON:0006631	99.84	gold quality
smooth muscle tissue	UBERON:0001135	99.83	gold quality
transverse colon	UBERON:0001157	99.80	gold quality
heart left ventricle	UBERON:0002084	99.80	gold quality
right lobe of liver	UBERON:0001114	99.78	gold quality
body of stomach	UBERON:0001161	99.78	gold quality
right testis	UBERON:0004534	99.76	gold quality
right hemisphere of cerebellum	UBERON:0014890	99.76	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 13)

• This is the eighth disease-causing mutation in this tRNA gene and confirms serine (UCN) as one of the most common sites for mtDNA mutation. (PMID:15210164)
• Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene. (PMID:15482956)
• Families carrying both G7444A and A1555G mutations in the Mitochondrial tRNASer(UCN) gene displayed high penetrance of hearing loss. (PMID:17659260)
• This case adds to the spectrum of clinical presentations, i.e. sinus thrombosis, in patients having MTTS1 mutations. (PMID:17894844)
• In a large North American family with matrilineal transmission of non-syndromic, progressive sensorineural hearing loss, the entire mitochondrial genome was sequenced and the previously reported 7510T>C transition in the tRNA(Ser(UCN)) gene was found (PMID:18028453)
• 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. (PMID:20722495)
• Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation. (PMID:22453297)
• PCDH15 p.Asp1010Gly variant probably modified the phenotypic expression of the 7511T>C mutation in MT-TS1 (PMID:26279247)
• Mitochondrial COI/tRNASer(UCN) G7444A mutation is associated with aminoglycoside-induced and non-syndromic hearing impairment. (PMID:26497601)
• 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. (PMID:29257206)
• 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 . (PMID:29299381)
• 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. (PMID:30336267)
• Mitochondrial tRNA(Ser(UCN)) 7471delC may be a novel mutation associated with maternally transmitted hypertension. (PMID:31776834)

Cross-species orthologs

0 orthologs

Protein

Non-coding RNA — no protein product; not a drug target.

Function

No curated pathway, Gene-Ontology, or interaction data.

Disease & clinical

No curated disease, variant, or cancer-driver associations.

Drugs & pharmacology

No drug or pharmacology data — not an established drug target.