Aliases for MT-TI Gene

Data sources for MT-TI Gene:

RNA type for MT-TI Gene

tRNA

Aliases for MT-TI Gene

External Ids for MT-TI Gene

Previous HGNC Symbols for MT-TI Gene

  • MTTI

Previous GeneCards Identifiers for MT-TI Gene

  • GC00U921603

Summaries for MT-TI Gene

GeneCards Summary for MT-TI Gene

MT-TI (Mitochondrially Encoded TRNA-Ile (AUU/C)) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TI include Hypomagnesemia, Hypertension, And Hypercholesterolemia, Mitochondrial and Deafness, Nonsyndromic Sensorineural, Mitochondrial. Among its related pathways are tRNA Aminoacylation.

Rfam classification for MT-TI Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary and piRNA Summary for MT-TI Gene

Genomics for MT-TI Gene

Genomic Locations for MT-TI Gene

Latest Assembly
chrMT:4,262-4,332
(GRCh38/hg38)
Size:
71 bases
Orientation:
Plus strand

Previous Assembly
chrMT:4,263-4,331
(GRCh37/hg19 by Ensembl)
Size:
69 bases
Orientation:
Plus strand

Genomic View for MT-TI Gene

Genes around MT-TI on UCSC Golden Path with GeneCards custom track
MT-TI in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TI Gene

No data available for GeneHancer (GH) Regulatory Elements for MT-TI Gene

Proteins for MT-TI Gene

Post-translational modifications for MT-TI Gene

No Post-translational modifications

No data available for DME Specific Peptides for MT-TI Gene

Domains & Families for MT-TI Gene

Gene Families for MT-TI Gene

genes like me logo Genes that share domains with MT-TI: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MT-TI Gene

Function for MT-TI Gene

Human Phenotype Ontology for MT-TI Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

CRISPR products for research

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MT-TI Gene

Localization for MT-TI Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MT-TI gene
Compartment Confidence
mitochondrion 3
nucleus 2
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for MT-TI Gene

Pathways & Interactions for MT-TI Gene

PathCards logo

SuperPathways for MT-TI Gene

SuperPathway Contained pathways
1 tRNA Aminoacylation
genes like me logo Genes that share pathways with MT-TI: view

Pathways by source for MT-TI Gene

1 KEGG pathway for MT-TI Gene

Gene Ontology (GO) - Biological Process for MT-TI Gene

None

No data available for Interacting Proteins and SIGNOR curated interactions for MT-TI Gene

Drugs & Compounds for MT-TI Gene

No Compound Related Data Available

Transcripts for MT-TI Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for MT-TI Gene

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS000025082B_9606 tRNA 69 2

Ensembl: ENST00000387365 (view in UCSC) ,

ENA: View 50642 records in RNAcentral

URS00004CAA6C_9606 tRNA 69 2

Modomics: tRNA,

ENA: AB043958.1:1..72:tRNA,

URS00000012EC_9606 tRNA 69 1

ENA: View 34 records in RNAcentral

URS000000DC32_9606 tRNA 69 1

ENA: JX153034.1:4261..4329:tRNA,

URS00000225B7_9606 tRNA 69 1

ENA: KC533516.1:4261..4329:tRNA,

MT-TI in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Alternative Splicing Database (ASD) splice patterns (SP) for MT-TI Gene

No ASD Table

Relevant External Links for MT-TI Gene

GeneLoc Exon Structure for
MT-TI

No data available for mRNA/cDNA for MT-TI Gene

Expression for MT-TI Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MT-TI Gene

Orthologs for MT-TI Gene

Evolution for MT-TI Gene

ENSEMBL:
Gene Tree for MT-TI (if available)
TreeFam:
Gene Tree for MT-TI (if available)
Alliance of Genome Resources:
Additional Orthologs for MT-TI

No data available for Orthologs for MT-TI Gene

Paralogs for MT-TI Gene

No data available for Paralogs for MT-TI Gene

Variants for MT-TI Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MT-TI Gene

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
rs121434465 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; Cardiomyopathy, fatal infantile 4,317(+) A/G
m.4317A>G
rs121434466 Pathogenic: Cardiomyopathy, fatal 4,269(+) A/G
m.4269A>G
rs121434467 Conflicting Interpretations: Deafness, nonsyndromic sensorineural, mitochondrial; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; Primary familial hypertrophic cardiomyopathy; not specified; not provided 4,295(+) A/G
m.4295A>G
rs121434468 Likely Pathogenic: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; Multisystem disorder 4,284(+) G/A
m.4284G>A
rs121434469 Uncertain Significance: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; Encephalopathy, familial progressive necrotizing 4,290(+) T/C
m.4290T>C

Additional Variant Information for MT-TI Gene

Human Gene Mutation Database (HGMD)
MT-TI
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MT-TI
Leiden Open Variation Database (LOVD)
MT-TI

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , dbSNP identifiers (rs#s) for variants without ClinVar clinical significance , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MT-TI Gene

Disorders for MT-TI Gene

MalaCards: The human disease database

(23) MalaCards diseases for MT-TI Gene - From: CVR, GTR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search MT-TI in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MT-TI

genes like me logo Genes that share disorders with MT-TI: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MT-TI Gene

Publications for MT-TI Gene

  1. Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine. (PMID: 21982779) Cox R … Enns GM (Mitochondrion 2012) 3 72
  2. [Search for mitochondrial DNA T4291C mutation in Hungarian patients with metabolic syndrome]. (PMID: 16734181) Maász A … Melegh B (Orvosi hetilap 2006) 3 40
  3. A cluster of metabolic defects caused by mutation in a mitochondrial tRNA. (PMID: 15498972) Wilson FH … Lifton RP (Science (New York, N.Y.) 2004) 3 72
  4. A deafness-associated tRNA mutation caused pleiotropic effects on the m1G37 modification, processing, stability and aminoacylation of tRNAIle and mitochondrial translation. (PMID: 33398350) Meng F … Guan MX (Nucleic acids research 2021) 3
  5. Interpretation of mitochondrial tRNA variants. (PMID: 31965079) Wong LC … Craigen WJ (Genetics in medicine : official journal of the American College of Medical Genetics 2020) 72

Products for MT-TI Gene

Sources for MT-TI Gene