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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 Symbols for MT-TL1 Gene

  • MTTL1

Summaries for MT-TL1 Gene

GeneCards Summary for MT-TL1 Gene

MT-TL1 (Mitochondrially Encoded TRNA Leucine 1 (UUA/G)) is a RNA Gene, and belongs to Mt_tRNA RNA class. Diseases associated with MT-TL1 include maternally inherited diabetes and deafness and cardiomyopathy with or without skeletal myopathy. 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

  • MTTRNA :ncRNAs / Transfer RNA, mitochondrial
genes like me logo Genes that share domains with MT-TL1: view

No data available for Protein Domains 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 Targeting and HOMER Transcription for MT-TL1 Gene

Localization for MT-TL1 Gene

No data available for 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

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 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 UniProtKB/Swiss-Prot for MT-TL1 Gene

Publications for MT-TL1 Gene

  1. Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment. (PMID: 17357124) Samanich J. … Morrow B.E. (Am. J. Med. Genet. A 2007) 3 49
  2. Increased risk of stroke in patients with the A12308G polymorphism in mitochondria. (PMID: 11145497) Pulkes T. … Hanna M.G. (Lancet 2000) 3 49
  3. 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 49
  4. 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 49
  5. 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 49

Products for MT-TL1 Gene

Sources for MT-TL1 Gene

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