Aliases for MT-TK Gene

Data sources for MT-TK Gene:

RNA type for MT-TK Gene

tRNA

Aliases for MT-TK Gene

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-Lys (AAA/G)) is an RNA Gene, and is affiliated with the tRNA 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 , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MT-TK Gene

Genomics for MT-TK Gene

Genomic Locations for MT-TK Gene

Latest Assembly
chrMT:8,287-8,365
(GRCh38/hg38)
Size:
79 bases
Orientation:
Plus strand

Previous Assembly
chrMT:8,295-8,364
(GRCh37/hg19 by Ensembl)
Size:
70 bases
Orientation:
Plus strand

Genomic View for MT-TK Gene

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

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TK Gene

No data available for GeneHancer (GH) 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

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

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure 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

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-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 2
nucleus 2
plasma membrane 1
extracellular 1
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-TK Gene

Pathways & Interactions for MT-TK Gene

PathCards logo

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

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

None

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

Drugs & Compounds for MT-TK Gene

No Compound Related Data Available

Transcripts for MT-TK Gene

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

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS000007A90A_9606 tRNA 70 2

Ensembl: ENST00000387421 (view in UCSC) ,

ENA: View 51621 records in RNAcentral

URS000061CC6B_9606 tRNA 78 1

ENA: GU186096.1:1..78:tRNA,

URS000000EE2E_9606 tRNA 70 1

ENA: AY195750.1:8296..8365:tRNA, DQ862537.1:8297..8366:tRNA, MG272754.1:8296..8365:tRNA,

URS0000044942_9606 tRNA 70 1

ENA: JQ702881.1:8295..8364:tRNA, MH553733.1:8295..8364:tRNA, MK059707.1:8296..8365:tRNA,

URS000006DD90_9606 tRNA 70 1

ENA: View 8 records in RNAcentral

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

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

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

Expression for MT-TK Gene

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

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
Pelvis:
  • penis
  • rectum
Limb:
  • lower limb
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
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 , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES 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)
Alliance of Genome Resources:
Additional Orthologs for MT-TK

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

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

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
430677 Pathogenic: Mitochondrial diseases 7,729(+) AAAACTAACTAATACT
NC_012920.1:m.7730_11255del3526
INITIATIOR_CODON_VARIANT,FRAMESHIFT
rs118192098 Pathogenic: Leigh syndrome; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; MERRF syndrome; Parkinson disease, mitochondrial; Mitochondrial diseases; not provided 8,344(+) A/G
m.8344A>G
rs118192099 Pathogenic: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; MERRF syndrome; MERRF/MELAS overlap syndrome 8,356(+) T/C
m.8356T>C
rs118192100 Pathogenic: Leigh syndrome; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; MERRF syndrome; Cardiomyopathy and Deafness 8,363(+) G/A
m.8363G>A
rs118192101 Pathogenic: Mitochondrial DNA depletion syndrome 1 (MNGIE type) 8,313(+) G/A
m.8313G>A

Additional Variant Information for MT-TK Gene

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

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-TK Gene

Disorders for MT-TK Gene

MalaCards: The human disease database

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

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

Additional Disease Information for MT-TK

Open Targets Platform
Open Targets Platform
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. Investigation on mitochondrial tRNA(Leu/Lys), NDI and ATPase 6/8 in Iranian multiple sclerosis patients. (PMID: 17619138) Ahari SE … Bahar MA (Cellular and molecular neurobiology 2007) 3 40
  2. Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan. (PMID: 17300808) Lee YC … Soong BW (Journal of the neurological sciences 2007) 3 40
  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 RA (The Journal of molecular diagnostics : JMD 2006) 3 40
  4. Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001. (PMID: 14748908) Marotta R … Collins S (Internal medicine journal 2004) 3 40
  5. MERRF (PMID: 20301693) Velez-Bartolomei F … Enns G (GeneReviews® 2003) 3 72

Products for MT-TK Gene

Sources for MT-TK Gene