MT-TI

Summary

MT-TI (mitochondrially encoded tRNA-Ile (AUU/C), HGNC:7488) is a mitochondrial tRNA gene on chromosome mitochondria.

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:7488
Approved symbol	MT-TI
Name	mitochondrially encoded tRNA-Ile (AUU/C)
Location	mitochondria
Locus type	RNA, transfer
Status	Approved
Aliases	trnI
Ensembl gene	ENSG00000210100
Ensembl biotype	Mt_tRNA
OMIM	590045
Entrez	4565
RNAcentral	URS000025082B — tRNA, 69 nt, 3 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 Mt_tRNA

ENST00000387365

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000387365 — 1 exons

Exon	Start	End
ENSE00001993597	4263	4331

Expression profiles

Bgee: expression breadth ubiquitous, 117 present calls, max score 99.59.

FANTOM5 (CAGE): breadth broad, TPM avg 5.9489 / max 2930.8043, expressed in 675 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
194851	5.9489	675

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue	UBERON:0001134	99.59	gold quality
sural nerve	UBERON:0015488	99.37	gold quality
putamen	UBERON:0001874	98.48	gold quality
caudate nucleus	UBERON:0001873	98.41	gold quality
apex of heart	UBERON:0002098	98.30	gold quality
nucleus accumbens	UBERON:0001882	97.62	gold quality
substantia nigra	UBERON:0002038	97.54	gold quality
amygdala	UBERON:0001876	97.47	gold quality
Ammon’s horn	UBERON:0001954	96.86	gold quality
right frontal lobe	UBERON:0002810	96.86	gold quality
frontal cortex	UBERON:0001870	96.56	gold quality
anterior cingulate cortex	UBERON:0009835	96.15	gold quality
heart left ventricle	UBERON:0002084	95.82	gold quality
prefrontal cortex	UBERON:0000451	95.67	gold quality
hypothalamus	UBERON:0001898	95.60	gold quality
duodenum	UBERON:0002114	95.32	gold quality
cerebral cortex	UBERON:0000956	95.09	gold quality
vermiform appendix	UBERON:0001154	94.95	gold quality
right adrenal gland cortex	UBERON:0035827	94.66	gold quality
bone marrow	UBERON:0002371	94.55	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.45	gold quality
lymph node	UBERON:0000029	93.68	gold quality
brain	UBERON:0000955	93.26	gold quality
right adrenal gland	UBERON:0001233	93.18	gold quality
adult mammalian kidney	UBERON:0000082	92.75	gold quality
granulocyte	CL:0000094	92.74	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.60	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.53	gold quality
adrenal gland	UBERON:0002369	92.34	gold quality
left adrenal gland	UBERON:0001234	92.21	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.50

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 13)

• in a kindred with a syndrome including hypertension, hypercholesterolemia & hypomagnesemia, analysis of maternal lineage mitochondrial genome identified a mutation substituting cytidine for uridine immediately 5’ to the mitochondrial TRNA(Ile) anticodon (PMID:15498972)
• Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle. (PMID:17965958)
• The present study reports the novel m.4322dupC mutation in tRNA gene, which is possibly associated to idiopathic dilated cardiomyopathy, to isolated mitochondrial DNA. (PMID:18043288)
• These results suggest that structural perturbations reduce efficiency of tRNA(Ile) precursor 3’ end processing and contribute to the molecular pathomechanism of this mutation to progressive external ophthalmoplegia. (PMID:21292040)
• data provide direct evidence that mitochondrial dysfunction caused by mitochondrial tRNA(Ile) 4263A>G mutation is involved in essential hypertension (PMID:21454794)
• The authors conclude that there is strong evidence to classify m.4296G>A as a pathogenic mutation causing Leigh syndrome. (PMID:21982779)
• These results suggest that m.4296G>A is pathogenic in humans, and that the phenotype related to this change includes Leigh-like syndrome in adolescence with parkinsonism and hypogonadism. (PMID:23395828)
• We describe a novel MTTI transition mutation at nucleotide position m.4282G>A associated with a chronic progressive external ophthalmoplegia (CPEO) plus phenotype. (PMID:25034047)
• The C4329G point mutation in tRNAIle and tRNAGln was involved in the pathogenesis of hypertension, perhaps in association with other modifying factors. (PMID:25056089)
• Data indicate that the 4329C> G point mutation in mitochondrial transfer RNA genes tRNA(Ile) and tRNA(Gln) probably contributed to the pathogenesis of hypertension, possibly in association with other modifying factors. (PMID:25297595)
• The study demonstrated the role of a deafness susceptibility allele (m.4317A–>G mutation) in the tRNAIle gene in the phenotypic manifestation of the deafness-associated m.1555A–>G mutation. The m.4317A–>G mutation altered both structure and function of tRNAIle. (PMID:29348176)
• EP4 enhancement aggravated imbalanced mesangial cell proliferation stimulated by TGFbeta1 and GS of mice treated with 5/6 nephrectomy through the Smad and mitogenactivated protein kinase pathways. (PMID:30272361)
• A deafness-associated tRNA mutation caused pleiotropic effects on the m1G37 modification, processing, stability and aminoacylation of tRNAIle and mitochondrial translation. (PMID:33398350)

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.