Free for academic non-profit institutions. Other users need a Commercial license

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 Myoclonic Epilepsy Associated With Ragged-Red Fibers and Diabetes And Hearing Loss. Among its related pathways are tRNA Aminoacylation.

No data available for Entrez Gene Summary , CIViC 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

Animal Model Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MT-TL1 gene
Compartment Confidence
mitochondrion 2

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

SuperPathway 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

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

Phenotype-based relationships between genes and organs from Gene ORGANizer for MT-TL1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • inner ear
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • pituitary gland
  • skull
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • penis
  • rectum
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MT-TL1: view

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

Human Gene Mutation Database (HGMD)
MT-TL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

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

Disorder Aliases PubMed IDs
myoclonic epilepsy associated with ragged-red fibers
  • merrf syndrome
diabetes and hearing loss
  • diabetes-deafness syndrome, maternally transmitted
diabetes and deafness, maternally inherited
  • maternally inherited diabetes and deafness
kearns-sayre syndrome
  • ophthalmoplegia
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 46 64
  2. 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 46 64
  3. Variation of mitochondrial gene and the association with type 2 diabetes mellitus in a Chinese population. (PMID: 16414144) Tang D.L. … Liu F. (Diabetes Res. Clin. Pract. 2006) 3 46 64
  4. 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. (PMID: 16645216) Fan H. … Farber R.A. (J Mol Diagn 2006) 3 46 64
  5. Mitochondrial polymorphisms as risk factors for endometrial cancer in southwest China. (PMID: 16884381) Xu L. … Xiao C. (Int. J. Gynecol. Cancer 2006) 3 46 64

Products for MT-TL1 Gene

Sources for MT-TL1 Gene

Content
Loading form....