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MT-TL1 Gene

RNA gene   GIFtS: 20
GCID: GCMTP003232

Mitochondrially Encoded TRNA Leucine 1 (UUA/G)

(Previous name: tRNA leucine 1 (UUA/G))
(Previous symbol: MTTL1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Subcategory (RNA class): Mt_tRNA

Quality score for this RNA gene is 3

Aliases
Mitochondrially Encoded TRNA Leucine 1 (UUA/G)1
MTTL11 2
TRNA Leucine 1 (UUA/G)1
TRNL12
tRNA2

External Ids:    HGNC: 74901   Entrez Gene: 45672   Ensembl: ENSG000002090827   OMIM: 5900505   

Export aliases for MT-TL1 gene to outside databases

Previous GC identifer: GC00U921605


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 maternally inherited diabetes and deafness, and maternally-inherited progressive external ophthalmoplegia.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for MT-TL1
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MT-TL1


Genomic Location:
Chromosome:MT   

Ensembl cytogenetic band:  MT   HGNC chromosome: mitochondria

GeneLoc information about chromosome MT         GeneLoc Exon Structure

GeneLoc location for GCMTP003232:       (about GC identifiers)

Start:
3,230 bp from pter      End:
3,304 bp from pter
Size:
75 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB: --


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
MTTRNA: ncRNAs / Transfer RNA, mitochondrial

  --

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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  --

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for MT-TL1 About    
See pathways by source

SuperPathContained pathways About
1tRNA Aminoacylation
Aminoacyl-tRNA biosynthesis0.52

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



1 Kegg Pathway  (Kegg details for MT-TL1):
    Aminoacyl-tRNA biosynthesis


MT-TL1 for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MT-TL1
Interactions:

    Search GeneGlobe Interaction Network for MT-TL1

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Tocris compounds for MT-TL1



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000386347(Mt_tRNA)
miRNA
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GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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Expression evidence for MT-TL1:none

See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

MT-TL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --
    Custom PCR Arrays for MT-TL1
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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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  --

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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Human Gene Mutation Database (HGMD): MT-TL1
Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing MT-TL1
DNA2.0 Custom Variant and Variant Library Synthesis for MT-TL1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 590050    OMIM disorders: --

Selected diseases for MT-TL1 (see all 35):    
About MalaCards
maternally inherited diabetes and deafness    maternally-inherited progressive external ophthalmoplegia    mitochondrial cardiomyopathy    diabetes and hearing loss
cardiomyopathy with or without skeletal myopathy    hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial dna mutation    melas, mt-tl1-related    kearns-sayre syndrome
mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes    merrf/melas overlap syndrome    mitochondrial dna-associated leigh syndrome and narp    mitochondrial encephalomyopathy
merrf syndrome    sensorineural hearing loss    melas syndrome    encephalomyopathy
lactic acidosis    leigh disease    mitochondrial disorders    werner syndrome


MT-TL1 for disorders           About GeneDecksing

GeneTests: MT-TL1
GeneReviews: MT-TL1
Genetic Association Database (GAD): MT-TL1

Export disorders for MT-TL1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for MT-TL1 gene, integrated from 10 sources (see all 73):
(articles sorted by number of sources associating them with MT-TL1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan. (PubMed id 17300808)1, 4 Lee Y.C....Soong B.W. (J. Neurol. Sci. 2007)
  2. Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment. (PubMed id 17357124)1, 4 Samanich J....Morrow B.E. (Am. J. Med. Genet. A 2007)
  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. (PubMed id 16645216)1, 4 Fan H....Farber R.A. (J Mol Diagn 2006)
  4. [Detecting of mtDNA mutations at position A3243G and G3316A in patients with type 2 diabetes mellitus in Wenzhou]. (PubMed id 17035175)1, 4 Zhao J....Lu J.X. (Yi Chuan 2006)
  5. Genetics of fulminant type 1 diabetes. (PubMed id 17130528)1, 4 Kawasaki E. and Eguchi K. (Ann. N. Y. Acad. Sci. 2006)
  6. Mitochondrial polymorphisms as risk factors for endometrial cancer in southwest China. (PubMed id 16884381)1, 4 Xu L....Xiao C. (Int. J. Gynecol. Cancer 2006)
  7. Variation of mitochondrial gene and the association with type 2 diabetes mellitus in a Chinese population. (PubMed id 16414144)1, 4 Tang D.L....Liu F. (Diabetes Res. Clin. Pract. 2006)
  8. [Association of mitochondrial DNA variation with type 2 diabetes mellitus]. (PubMed id 16331560)1, 4 Tang D.L....Liu S.M. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005)
  9. [Phenotype heterogeneity associated with mitochondrial DNA A3243G mutation]. (PubMed id 15782498)1, 4 Zhang Y....Qi Y. (Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2005)
  10. A pilot study of mitochondrial DNA point mutation A3243G in a sample of Croatian patients having type 2 diabetes mellitus associated with maternal inheritance. (PubMed id 15660201)1, 4 Martin-Kleiner I....BoraniA8 M. (Acta Diabetol 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Disorders
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4567 HGNC: 7490 Ensembl:ENSG00000209082 euGenes: HUgn4567 ECgene: MT-TL1 Kegg: 4567
H-InvDB: MT-TL1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for MT-TL1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for MT-TL1 gene:
Search GeneIP for patents involving MT-TL1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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