Aliases for MT-TT Gene

Data sources for MT-TT Gene:

RNA type for MT-TT Gene

tRNA

Aliases for MT-TT Gene

  • Mitochondrially Encoded TRNA-Thr (ACN) (HGNC, Ensembl)
  • Lethal Infantile Mitochondrial Myopathy (HGNC)
  • Mitochondrially Encoded TRNA Threonine (HGNC)
  • TRNA Threonine (HGNC)
  • RF00005 (Rfam)

External Ids for MT-TT Gene

Previous HGNC Symbols for MT-TT Gene

  • MTTT
  • LIMM

Previous GeneCards Identifiers for MT-TT Gene

  • GC00U921614

Summaries for MT-TT Gene

GeneCards Summary for MT-TT Gene

MT-TT (Mitochondrially Encoded TRNA-Thr (ACN)) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TT include Mitochondrial Myopathy, Lethal, Infantile and Parkinson Disease, Mitochondrial. Among its related pathways are tRNA Aminoacylation.

Rfam classification for MT-TT 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-TT Gene

Genomics for MT-TT Gene

Genomic Locations for MT-TT Gene

Latest Assembly
chrMT:15,887-15,954
(GRCh38/hg38)
Size:
68 bases
Orientation:
Plus strand

Previous Assembly
chrMT:15,888-15,953
(GRCh37/hg19 by Ensembl)
Size:
66 bases
Orientation:
Plus strand

Genomic View for MT-TT Gene

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

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TT Gene

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

Proteins for MT-TT Gene

Post-translational modifications for MT-TT Gene

No Post-translational modifications

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

Domains & Families for MT-TT Gene

Gene Families for MT-TT Gene

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

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

Function for MT-TT Gene

Phenotypes for MT-TT Gene

genes like me logo Genes that share phenotypes with MT-TT: view

Human Phenotype Ontology for MT-TT 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 , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MT-TT Gene

Localization for MT-TT 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-TT gene
Compartment Confidence
mitochondrion 2
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-TT Gene

Pathways & Interactions for MT-TT Gene

PathCards logo

SuperPathways for MT-TT Gene

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

Pathways by source for MT-TT Gene

1 KEGG pathway for MT-TT Gene

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

None

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

Drugs & Compounds for MT-TT Gene

No Compound Related Data Available

Transcripts for MT-TT Gene

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

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS00000FCDE9_9606 tRNA 66 2

Ensembl: ENST00000387460 (view in UCSC) ,

ENA: View 43636 records in RNAcentral

URS0000040D9B_9606 tRNA 66 1

ENA: JX303899.1:15884..15949:tRNA, KC622219.1:15886..15951:tRNA,

URS000004601F_9606 tRNA 66 1

ENA: View 113 records in RNAcentral

URS0000052CEA_9606 tRNA 66 1

ENA: View 44 records in RNAcentral

URS0000053221_9606 tRNA 66 1

ENA: View 6 records in RNAcentral

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

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

No ASD Table

Relevant External Links for MT-TT Gene

GeneLoc Exon Structure for
MT-TT

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

Expression for MT-TT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MT-TT Gene

Phenotype-based relationships between genes and organs from Gene ORGANizer for MT-TT Gene

Germ Layers:
  • mesoderm
Systems:
  • skeletal muscle
genes like me logo Genes that share expression patterns with MT-TT: view

No data available for 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 and Evidence on tissue expression from TISSUES for MT-TT Gene

Orthologs for MT-TT Gene

Evolution for MT-TT Gene

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

No data available for Orthologs for MT-TT Gene

Paralogs for MT-TT Gene

No data available for Paralogs for MT-TT Gene

Variants for MT-TT Gene

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

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
972986 Not Provided: not provided 15,917(+) C/T
NC_012920.1:m.15917C>T
rs118203890 Uncertain Significance: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; Parkinson disease, mitochondrial 15,950(+) G/A
m.15950G>A
rs1556424681 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 15,891(+) C/T
NC_012920.1(MT-CYB):m.15891C>T
rs1556424683 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 15,892(+) T/C
NC_012920.1(MT-CYB):m.15892T>C
rs1556424685 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 15,902(+) A/G
NC_012920.1(MT-CYB):m.15902A>G

Additional Variant Information for MT-TT Gene

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

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-TT Gene

Disorders for MT-TT Gene

MalaCards: The human disease database

(26) MalaCards diseases for MT-TT Gene - From: CVR, GTR, ORP, COP, and GCD

Additional Disease Information for MT-TT

Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MT-TT: view

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

Publications for MT-TT Gene

  1. A mitochondrial DNA variant associated with left ventricular hypertrophy in diabetes. (PMID: 14680844) Momiyama Y … Matsuoka R (Biochemical and biophysical research communications 2003) 3 40
  2. Maternally Inherited Diabetes Mellitus Associated with a Novel m.15897G>A Mutation in Mitochondrial tRNAThr Gene. (PMID: 32083134) Li K … Zhao T (Journal of diabetes research 2020) 3
  3. 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
  4. A coronary artery disease-associated tRNAThr mutation altered mitochondrial function, apoptosis and angiogenesis. (PMID: 30541130) Jia Z … Guan MX (Nucleic acids research 2019) 3
  5. Leber's hereditary optic neuropathy caused by a mutation in mitochondrial tRNAThr in eight Chinese pedigrees. (PMID: 29225014) Zhang J … Guan MX (Mitochondrion 2018) 3

Products for MT-TT Gene

Sources for MT-TT Gene