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mitochondrially encoded tRNA leucine 1 (UUA/G)(Previous name: tRNA leucine 1 (UUA/G) )
(Previous symbol: MTTL1)
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Aliases
for MT-TL1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
Subcategory (RNA class): Mt_tRNA
Quality score for this RNA gene is 3
| Aliases |
|---|
| Mitochondrially Encoded TRNA Leucine 1 (UUA/G)1 | | MTTL11 2 | | TRNL11 2 | | TRNA Leucine 1 (UUA/G)1 | | TRNA1 |
Export aliases for MT-TL1 gene to outside databasesPrevious GC identifer: GC00U921605 |
Summaries
for MT-TL1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for MT-TL1 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for MT-TL1
Other transcription factors
Search SABiosciences Chromatin IP Primers for MT-TL1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MT-TL1 |
Genomic Location:
Chromosome:MT
Ensembl cytogenetic band: MT HGNC chromosome: mitochondriaGeneLoc information about chromosome MT GeneLoc Exon Structure GeneLoc location for GCMTP003232: view genomic region
(about GC identifiers)
Start:
|
3,230 bp from pter |
End:
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3,304 bp from pter |
Size:
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75 bases |
Orientation:
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plus strand |
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Proteins
for MT-TL1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
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UniProtKB: --
|
Protein
Domains /
Families
for MT-TL1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| -- |
Function
for MT-TL1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
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Pathways & Interactions
for MT-TL1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
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Unified GeneCards pathways About this table 
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | tRNA Aminoacylation | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Kegg Pathway (Kegg details for MT-TL1):
MT-TL1 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MT-TL1
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Drugs & Compounds
for MT-TL1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for MT-TL1
Search CenterWatch for drugs/clinical trials and news about MT-TL1
|
Transcripts
for MT-TL1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
1 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000386347(Mt_tRNA)
GeneLoc Exon Structure
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Expression
for MT-TL1 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| Expression evidence for MT-TL1:none
MT-TL1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image SABiosciences Custom PCR Arrays for MT-TL1
Primer
Products: |  | Browse OriGene genome-wide validated SYBR primer pairs
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat MT-TL1 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MT-TL1 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MT-TL1 |
Orthologs
for MT-TL1 gene
(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)
About This Section
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ENSEMBL Gene Tree for MT-TL1 (if available)
TreeFam Gene Tree for MT-TL1 (if available) |
Paralogs
for MT-TL1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for MT-TL1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
Human Gene Mutation Database (HGMD): MT-TL1
| SABiosciences Cancer Mutation PCR Assays |
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Disorders
/ Diseases
for MT-TL1 gene
(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.)
About This Section
|
MT-TL1 for disorders About GeneDecksing
OMIM gene information: 590050
OMIM disorders: --
20/22  diseases for MT-TL1 (see all 22): About MalaCardsmitochondrial encephalomyopathy lactic acidosis and stroke-like episodes merrf/melas overlap syndrome mitochondrial dna-associated leigh syndrome and narp intestinal pseudo-obstruction
mitochondrial encephalomyopathy lactic acidosis sensorineural hearing loss type 2 diabetes mellitus
hearing loss encephalomyopathy diabetes mellitus spinocerebellar ataxia
werner syndrome essential hypertension polyneuropathy multiple sclerosis
endometrial cancer ataxia hypertension myopathy
GeneTests: MT-TL1
Mitochondrial DNA-Associated Leigh Syndrome and NARPMitochondrial DisordersMELAS
Genetic Association Database (GAD): MT-TL1
Export disorders for MT-TL1 gene to outside databases
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Publications
for MT-TL1 gene (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)
About This Section
|
PubMed articles for MT-TL1 gene, integrated from 9 sources (see all 65):
(articles sorted by number of sources associating them with MT-TL1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- [Association of mitochondrial DNA variation with type 2 diabetes mellitus] (PubMed id 16331560)1, 4 Tang D.L....Liu S.M. (2005)
- [Phenotype heterogeneity associated with mitochondrial DNA A3243G mutation] (PubMed id 15782498)1, 4 Zhang Y....Qi Y. (2005)
- [Study on mitochondrial DNA gene tRNA(Leu(UUR)) A3243G mutation in type 2 diabetes mellitus] (PubMed id 15079803)1, 4 Zhang X.Y....Sun R. (2004)
- Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD). (PubMed id 15223991)1, 4 Guillausseau P.J....Timsit J. (2004)
- Diabetes mellitus with mitochondrial gene mutations in Japan. (PubMed id 15126296)1, 4 Suzuki S. (2004)
- 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....Boranic M. (2004)
- Clinical features of A3243G mitochondrial tRNA mutation. (PubMed id 15351082)1, 4 Chae J.H....Kim K.J. (2004)
- Cardiovascular autonomic regulation in patients with 3243A > G mitochondrial DNA mutation. (PubMed id 15181978)1, 4 Majamaa-Voltti K....Huikuri H.V. (2004)
- A mitochondrial DNA variant associated with left ventricular hypertrophy in diabetes. (PubMed id 14680844)1, 4 Momiyama Y....Matsuoka R. (2003)
- Muscle structural changes in mitochondrial myopathy relate to genotype. (PubMed id 14648149)1, 4 Olsen D.B....Vissing J. (2003)
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External Searches for MT-TL1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing MT-TL1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MT-TL1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MT-TL1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for MT-TL1 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| 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
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Products
for MT-TL1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
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|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MT-TL1 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MT-TL1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MT-TL1 | | | Search QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MT-TL1 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MT-TL1 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MT-TL1 |
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| | | | Search Tocris compounds for MT-TL1 |
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 | | | | |  |  |  | | | | Search ThermoFisher Antibodies for MT-TL1 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MT-TL1 |
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