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Aliases for MT-TK Gene

Subcategory (RNA class) for MT-TK Gene

non-coding RNA

Quality Score for this RNA gene is

3

Aliases for MT-TK Gene

  • Mitochondrially Encoded TRNA Lysine 2 5
  • TRNA Lysine 2
  • TRNA 3
  • TRNK 3
  • MTTK 3

External Ids for MT-TK Gene

Previous HGNC Symbols for MT-TK Gene

  • MERRF
  • MTTK

Previous GeneCards Identifiers for MT-TK Gene

  • GC00U921604

Summaries for MT-TK Gene

GeneCards Summary for MT-TK Gene

MT-TK (Mitochondrially Encoded TRNA Lysine) is an RNA Gene, and is affiliated with the non-coding RNA class. Diseases associated with MT-TK include Myoclonic Epilepsy Associated With Ragged-Red Fibers and Diabetes And Deafness, Maternally Inherited. Among its related pathways are tRNA Aminoacylation.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MT-TK Gene

Genomics for MT-TK Gene

Genomic Location for MT-TK Gene

Chromosome:
MT
Start:
8,295 bp from pter
End:
8,364 bp from pter
Size:
70 bases
Orientation:
Plus strand

Genomic View for MT-TK Gene

Genes around MT-TK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TK Gene

No data available for Regulatory Elements for MT-TK Gene

Proteins for MT-TK Gene

Post-translational modifications for MT-TK Gene

No Post-translational modifications

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

Domains & Families for MT-TK Gene

Gene Families for MT-TK Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for MT-TK Gene

Function for MT-TK Gene

Human Phenotype Ontology for MT-TK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

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

Localization for MT-TK 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-TK gene
Compartment Confidence
mitochondrion 3
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MT-TK Gene

Pathways & Interactions for MT-TK Gene

SuperPathways for MT-TK Gene

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

Pathways by source for MT-TK Gene

1 KEGG pathway for MT-TK Gene

Interacting Proteins for MT-TK Gene

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

None

No data available for SIGNOR curated interactions for MT-TK Gene

Transcripts for MT-TK Gene

mRNA/cDNA for MT-TK Gene

(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

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

No ASD Table

Relevant External Links for MT-TK Gene

GeneLoc Exon Structure for
MT-TK
ECgene alternative splicing isoforms for
MT-TK

Expression for MT-TK Gene

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

genes like me logo Genes that share expression patterns with MT-TK: 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 and mRNA Expression by UniProt/SwissProt for MT-TK Gene

Orthologs for MT-TK Gene

Evolution for MT-TK Gene

ENSEMBL:
Gene Tree for MT-TK (if available)
TreeFam:
Gene Tree for MT-TK (if available)

No data available for Orthologs for MT-TK Gene

Paralogs for MT-TK Gene

No data available for Paralogs for MT-TK Gene

Variants for MT-TK Gene

Relevant External Links for MT-TK Gene

Human Gene Mutation Database (HGMD)
MT-TK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MT-TK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MT-TK Gene

Disorders for MT-TK Gene

MalaCards: The human disease database

(34) MalaCards diseases for MT-TK Gene - From: ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myoclonic epilepsy associated with ragged-red fibers
  • merrf syndrome
diabetes and deafness, maternally inherited
  • maternally inherited diabetes and deafness
mt-tt related parkinson disease susceptibility
  • parkinson disease, mitochondrial
maternally-inherited cardiomyopathy and hearing loss
  • maternally-inherited cardiomyopathy and deafness
merrf/melas overlap syndrome
- elite association - COSMIC cancer census association via MalaCards
Search MT-TK in MalaCards View complete list of genes associated with diseases

Relevant External Links for MT-TK

Genetic Association Database (GAD)
MT-TK
genes like me logo Genes that share disorders with MT-TK: view

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

Publications for MT-TK Gene

  1. Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan. (PMID: 17300808) Lee Y.C. … Soong B.W. (J. Neurol. Sci. 2007) 3 46 64
  2. Investigation on mitochondrial tRNA(Leu/Lys), NDI and ATPase 6/8 in Iranian multiple sclerosis patients. (PMID: 17619138) Ahari S.E. … Bahar M.A. (Cell. Mol. Neurobiol. 2007) 3 46 64
  3. Detection of common disease-causing mutations in mitochondrial DNA (mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes MTTL1 3243 A>G and myoclonic epilepsy associated with ragged-red fibers MTTK 8344A>G) by real-time polymerase chain reaction. (PMID: 16645216) Fan H. … Farber R.A. (J Mol Diagn 2006) 3 46 64
  4. Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001. (PMID: 14748908) Marotta R. … Collins S. (Intern Med J 2004) 3 46 64
  5. Human tRNA(Lys3)(UUU) is pre-structured by natural modifications for cognate and wobble codon binding through keto-enol tautomerism. (PMID: 22227389) Vendeix F.A. … Agris P.F. (J. Mol. Biol. 2012) 3 64

Products for MT-TK Gene

Sources for MT-TK Gene

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