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Aliases for MT-TL1 Gene

Subcategory (RNA class) for MT-TL1 Gene

non-coding RNA

Quality Score for this RNA gene is

3

Aliases for MT-TL1 Gene

  • Mitochondrially Encoded TRNA Leucine 1 (UUA/G) 2 5
  • TRNA Leucine 1 (UUA/G) 2
  • TRNL1 3
  • MTTL1 3
  • TRNA 3

External Ids for MT-TL1 Gene

Previous HGNC Symbols for MT-TL1 Gene

  • MTTL1

Previous GeneCards Identifiers for MT-TL1 Gene

  • GC00U921605

Summaries for MT-TL1 Gene

GeneCards Summary for MT-TL1 Gene

MT-TL1 (Mitochondrially Encoded TRNA Leucine 1 (UUA/G)) is an RNA Gene, and is affiliated with the non-coding RNA class. Diseases associated with MT-TL1 include maternally inherited diabetes and deafness and diabetes and hearing loss. 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-TL1 Gene

Genomics for MT-TL1 Gene

Genomic Location for MT-TL1 Gene

Chromosome:
MT
Start:
3,230 bp from pter
End:
3,304 bp from pter
Size:
75 bases
Orientation:
Plus strand

Genomic View for MT-TL1 Gene

Genes around MT-TL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TL1 Gene

No data available for Regulatory Elements for MT-TL1 Gene

Proteins for MT-TL1 Gene

Post-translational modifications for MT-TL1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for MT-TL1 Gene

Domains & Families for MT-TL1 Gene

Gene Families for MT-TL1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MT-TL1: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for MT-TL1 Gene

Function for MT-TL1 Gene

Human Phenotype Ontology for MT-TL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

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-TL1 Gene

Localization for MT-TL1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MT-TL1 Gene COMPARTMENTS Subcellular localization image for MT-TL1 gene
Compartment Confidence
mitochondrion 2
chloroplast 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MT-TL1 Gene

Pathways & Interactions for MT-TL1 Gene

SuperPathways for MT-TL1 Gene

Superpath Contained pathways
1 tRNA Aminoacylation
genes like me logo Genes that share pathways with MT-TL1: view

Pathways by source for MT-TL1 Gene

1 KEGG pathway for MT-TL1 Gene

Interacting Proteins for MT-TL1 Gene

Gene Ontology (GO) - Biological Process for MT-TL1 Gene

None

No data available for SIGNOR curated interactions for MT-TL1 Gene

Drugs & Compounds for MT-TL1 Gene

No Compound Related Data Available

Transcripts for MT-TL1 Gene

mRNA/cDNA for MT-TL1 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for MT-TL1 Gene

No ASD Table

Relevant External Links for MT-TL1 Gene

GeneLoc Exon Structure for
MT-TL1
ECgene alternative splicing isoforms for
MT-TL1

Expression for MT-TL1 Gene

mRNA expression in normal human tissues for MT-TL1 Gene

mRNA differential expression in normal tissues according to GTEx for MT-TL1 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x6.5) and Brain - Caudate (basal ganglia) (x5.3).
genes like me logo Genes that share expression patterns with MT-TL1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for MT-TL1 Gene

Orthologs for MT-TL1 Gene

Evolution for MT-TL1 Gene

ENSEMBL:
Gene Tree for MT-TL1 (if available)
TreeFam:
Gene Tree for MT-TL1 (if available)

No data available for Orthologs for MT-TL1 Gene

Paralogs for MT-TL1 Gene

No data available for Paralogs for MT-TL1 Gene

Variants for MT-TL1 Gene

Relevant External Links for MT-TL1 Gene

HapMap Linkage Disequilibrium report
MT-TL1
Human Gene Mutation Database (HGMD)
MT-TL1

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-TL1 Gene

Disorders for MT-TL1 Gene

MalaCards: The human disease database

(28) MalaCards diseases for MT-TL1 Gene - From: ClinVar, GeneTests, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
maternally inherited diabetes and deafness
  • ballinger wallace syndrome
diabetes and hearing loss
  • diabetes-deafness syndrome, maternally transmitted
merrf syndrome
  • fukuhara syndrome
kearns-sayre syndrome
  • mitochondrial myopathies
merrf/melas overlap syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MT-TL1

Genetic Association Database (GAD)
MT-TL1
genes like me logo Genes that share disorders with MT-TL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MT-TL1 Gene

Publications for MT-TL1 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 48 67
  2. Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation. (PMID: 25680467) Brisca G. … Bruno C. (Biochem. Biophys. Res. Commun. 2015) 3
  3. Different mtDNA mutations modify tumor progression in dependence of the degree of respiratory complex I impairment. (PMID: 24163135) Iommarini L. … Porcelli A.M. (Hum. Mol. Genet. 2014) 3
  4. Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation. (PMID: 25086207) El-Hattab A.W. … Craigen W.J. (Mitochondrion 2014) 3
  5. Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation. (PMID: 23196335) Tschampa H.J. … Kornblum C. (J. Neurol. 2013) 3

Products for MT-TL1 Gene

Sources for MT-TL1 Gene

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