Aliases for MT-TA Gene

Data sources for MT-TA Gene:

RNA type for MT-TA Gene

tRNA

Aliases for MT-TA Gene

External Ids for MT-TA Gene

Previous HGNC Symbols for MT-TA Gene

  • MTTA

Previous GeneCards Identifiers for MT-TA Gene

  • GC00U921596

Summaries for MT-TA Gene

GeneCards Summary for MT-TA Gene

MT-TA (Mitochondrially Encoded TRNA-Ala (GCN)) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TA include Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy and Mitochondrial Myopathy. Among its related pathways are tRNA Aminoacylation.

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

Genomics for MT-TA Gene

Genomic Locations for MT-TA Gene

Latest Assembly
chrMT:5,577-5,657
(GRCh38/hg38)
Size:
81 bases
Orientation:
Minus strand

Previous Assembly
chrMT:5,587-5,655
(GRCh37/hg19 by Ensembl)
Size:
69 bases
Orientation:
Minus strand

Genomic View for MT-TA Gene

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

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TA Gene

No data available for GeneHancer (GH) Regulatory Elements for MT-TA Gene

Proteins for MT-TA Gene

Post-translational modifications for MT-TA Gene

No Post-translational modifications

No data available for DME Specific Peptides for MT-TA Gene

Domains & Families for MT-TA Gene

Gene Families for MT-TA Gene

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

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MT-TA Gene

Function for MT-TA Gene

Phenotypes From GWAS Catalog for MT-TA Gene

CRISPR products for research

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MT-TA Gene

Localization for MT-TA 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-TA gene
Compartment Confidence
mitochondrion 2
extracellular 1
nucleus 1
cytosol 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-TA Gene

Pathways & Interactions for MT-TA Gene

PathCards logo

SuperPathways for MT-TA Gene

SuperPathway Contained pathways
1 tRNA Aminoacylation
genes like me logo Genes that share pathways with MT-TA: view

Pathways by source for MT-TA Gene

1 KEGG pathway for MT-TA Gene

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

None

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

Drugs & Compounds for MT-TA Gene

No Compound Related Data Available

Transcripts for MT-TA Gene

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

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS000036D40A_9606 tRNA 69 2

Ensembl: ENST00000387392 (view in UCSC) ,

ENA: View 49556 records in RNAcentral

URS0000815733_9606 tRNA 73 1

ENA: KP702293.1:5000..5072:tRNA,

URS0000162BC0_9606 tRNA 71 1

ENA: AP010832.1:5585..5655:tRNA,

URS00000E14CD_9606 tRNA 69 1

ENA: View 346 records in RNAcentral

URS00001060BD_9606 tRNA 69 1

ENA: KF849924.1:5587..5655:tRNA,

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

Alternative Splicing Database (ASD) splice patterns (SP) for MT-TA Gene

No ASD Table

Relevant External Links for MT-TA Gene

GeneLoc Exon Structure for
MT-TA

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

Expression for MT-TA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MT-TA Gene

genes like me logo Genes that share expression patterns with MT-TA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MT-TA Gene

Orthologs for MT-TA Gene

Evolution for MT-TA Gene

ENSEMBL:
Gene Tree for MT-TA (if available)
TreeFam:
Gene Tree for MT-TA (if available)
Alliance of Genome Resources:
Additional Orthologs for MT-TA

No data available for Orthologs for MT-TA Gene

Paralogs for MT-TA Gene

No data available for Paralogs for MT-TA Gene

Variants for MT-TA Gene

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

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
rs121434457 Pathogenic: Myotonic dystrophy-like myopathy 5,650(-) G/A
m.5650G>A
rs121434458 Pathogenic: Mitochondrial myopathy; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 5,591(-) G/A
m.5591G>A
rs1556423015 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 5,628(-) T/C
NC_012920.1(MT-CYB):m.5628T>C
rs1556423019 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 5,655(-) T/C
NC_012920.1(MT-CYB):m.5655T>C
rs1603220042 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 5,592(-) A/G
NC_012920.1(MT-CYB):m.5592A>G

Additional Variant Information for MT-TA Gene

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

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-TA Gene

Disorders for MT-TA Gene

MalaCards: The human disease database

(12) MalaCards diseases for MT-TA Gene - From: CVR, COP, and GCD

Additional Disease Information for MT-TA

Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MT-TA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MT-TA Gene

Publications for MT-TA Gene

  1. Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy. (PMID: 25873012) Lehmann D … Taylor RW (European journal of human genetics : EJHG 2015) 3 72
  2. Interpretation of mitochondrial tRNA variants. (PMID: 31965079) Wong LC … Craigen WJ (Genetics in medicine : official journal of the American College of Medical Genetics 2020) 72
  3. The Mitochondrial tRNAAla T5655C Mutation May Modulate the Phenotypic Expression of tRNAMet and tRNAGln A4401G Mutation in a Han Chinese Family With Essential Hypertension. (PMID: 28111408) Xu Y … Liu W (International heart journal 2017) 3
  4. A Hypertension-Associated tRNAAla Mutation Alters tRNA Metabolism and Mitochondrial Function. (PMID: 27161322) Jiang P … Guan MX (Molecular and cellular biology 2016) 3
  5. The mutations m.5628T>C and m.8348A>G in single muscle fibers of a patient with chronic progressive external ophthalmoplegia. (PMID: 22743145) Gamba J … Tengan CH (Journal of the neurological sciences 2012) 3

Products for MT-TA Gene

Sources for MT-TA Gene