Aliases for MT-TL1 Gene

Data sources for MT-TL1 Gene:

RNA type for MT-TL1 Gene

tRNA

Aliases for MT-TL1 Gene

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-Leu (UUA/G) 1) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TL1 include Myoclonic Epilepsy Associated With Ragged-Red Fibers and Kearns-Sayre Syndrome. Among its related pathways are tRNA Aminoacylation.

Rfam classification for MT-TL1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary and piRNA Summary for MT-TL1 Gene

Genomics for MT-TL1 Gene

Genomic Locations for MT-TL1 Gene

Latest Assembly
chrMT:3,229-3,307
(GRCh38/hg38)
Size:
79 bases
Orientation:
Plus strand

Previous Assembly
chrMT:3,230-3,304
(GRCh37/hg19 by Ensembl)
Size:
75 bases
Orientation:
Plus strand

Genomic View for MT-TL1 Gene

Genes around MT-TL1 on UCSC Golden Path with GeneCards custom track
MT-TL1 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TL1 Gene

No data available for GeneHancer (GH) 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

genes like me logo Genes that share domains with MT-TL1: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure 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

CRISPR products for research

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for MT-TL1 Gene

Pathways & Interactions for MT-TL1 Gene

PathCards logo

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

Gene Ontology (GO) - Biological Process for MT-TL1 Gene

None

No data available for Interacting Proteins and SIGNOR curated interactions for MT-TL1 Gene

Drugs & Compounds for MT-TL1 Gene

No Compound Related Data Available

Transcripts for MT-TL1 Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for MT-TL1 Gene

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS000061A10B_9606 ncRNA 75 3

Ensembl: ENST00000386347 (view in UCSC) ,

Rfam: RF00005,

ENA: View 53019 records in RNAcentral

URS00005FEB83_9606 ncRNA 78 2

Modomics: tRNA,

ENA: AB026838.1:1..78:tRNA,

URS00000CE10F_9606 ncRNA 76 1

ENA: AF346970.1:3230..3305:tRNA, AF346979.1:3229..3304:tRNA, AF346991.1:3230..3305:tRNA,

URS000005981D_9606 ncRNA 75 1

ENA: EF184633.1:3231..3305:tRNA,

URS00000C04C6_9606 ncRNA 75 1

ENA: JX893365.1:3229..3303:tRNA,

MT-TL1 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

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

No data available for mRNA/cDNA for MT-TL1 Gene

Expression for MT-TL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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
Regions:
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)
Alliance of Genome Resources:
Additional Orthologs for MT-TL1

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

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MT-TL1 Gene

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
930602 Uncertain Significance: See cases 3,290(+) T/A
NC_012920.1:m.3290T>A
rs1057516057 Likely Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke. Likely Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke. Benign: Myopia (disease); Leber's optic atrophy; Hepatic steatosis; Hepatitis; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; Neuromuscular disease; Fibrosis; Developmental delay 3,275(+) C/AC/GC/T
NC_012920.1(MT-CYB):m.3275C>A
rs1603218849 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 3,236(+) A/G
NC_012920.1(MT-CYB):m.3236A>G
rs1603218855 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke. Likely Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 3,254(+) C/AC/T
NC_012920.1(MT-CYB):m.3254C>A
rs1603218856 Pathogenic: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 3,255(+) G/A
NC_012920.1(MT-CYB):m.3255G>A

Additional Variant Information for MT-TL1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , dbSNP identifiers (rs#s) for variants without ClinVar clinical significance , 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

(43) MalaCards diseases for MT-TL1 Gene - From: CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MT-TL1

Open Targets Platform
Open Targets Platform
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. 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 (Journal of human genetics 2001) 3 40 72
  2. The phenotypic spectrum of fifty Czech m.3243A>G carriers. (PMID: 27296531) Dvorakova V … Honzik T (Molecular genetics and metabolism 2016) 3 72
  3. High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation. (PMID: 23243073) Malfatti E … Wahbi K (Neurology 2013) 3 72
  4. Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction? (PMID: 22781753) Wortmann SB … Morava E (European journal of medical genetics 2012) 3 72
  5. MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes. (PMID: 20610441) Nakamura M … Sasaki H (Journal of medical genetics 2010) 3 72

Products for MT-TL1 Gene

Sources for MT-TL1 Gene