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Aliases for MT-TL1 Gene

Subcategory (RNA class) for MT-TL1 Gene


Quality Score for this RNA gene is


Aliases for MT-TL1 Gene

  • Mitochondrially Encoded TRNA Leucine 1 (UUA/G) 2
  • 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 Mt_tRNA class. Diseases associated with MT-TL1 include cyclic vomiting syndrome and maternally inherited diabetes and deafness. 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

3,230 bp from pter
3,304 bp from pter
75 bases
Plus strand

Genomic View for MT-TL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:

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 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

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

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

Pathways 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


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
ECgene alternative splicing isoforms for

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) (6.5) and Brain - Caudate (basal ganglia) (5.3).
genes like me logo Genes that share expressions with MT-TL1: view

Primer Products

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 Expression partners for MT-TL1 Gene

Orthologs for MT-TL1 Gene

Evolution for MT-TL1 Gene

Gene Tree for MT-TL1 (if available)
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
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar and Structural Variations from Database of Genomic Variants (DGV) for MT-TL1 Gene

Disorders for MT-TL1 Gene

Relevant External Links for MT-TL1

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

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for MT-TL1 Gene

Publications for MT-TL1 Gene

  1. Increased risk of stroke in patients with the A12308G polymorphism in mitochondria. (PMID: 11145497) Pulkes T. … Hanna M.G. (Lancet 2000) 3 48
  2. Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics. (PMID: 11587074) Nagata H. … Konno A. (J. Hum. Genet. 2001) 3 48
  3. Prevalence and clinical characteristics of mitochondrial tRNAleu(UUR) nt 3243 A-->G and nt 3316 G-->A mutations in Chinese patients with type 2 diabetes. (PMID: 11733107) Ji L. … Han X. (Diabetes Res. Clin. Pract. 2001) 3 48
  4. Prevalence of three mitrochondrial DNA mutations in type 2 diabetic patients from southern Brazil. (PMID: 12100083) Crispim D. … Roisenberg I. (Clin. Endocrinol. (Oxf) 2002) 3 48
  5. Novel mitochondrial 16S rRNA mutation, 3200T-->C, associated with adult-onset type 2 diabetes. (PMID: 12133550) Yang T. … Pang C.P. (Chin. Med. J. 2002) 3 48

Products for MT-TL1 Gene

Sources for MT-TL1 Gene

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