Aliases for MT-TS1 Gene

Data sources for MT-TS1 Gene:

RNA type for MT-TS1 Gene

tRNA

Aliases for MT-TS1 Gene

External Ids for MT-TS1 Gene

Previous HGNC Symbols for MT-TS1 Gene

  • MTTS1

Previous GeneCards Identifiers for MT-TS1 Gene

  • GC00U921612
  • GCMTM007447

Summaries for MT-TS1 Gene

GeneCards Summary for MT-TS1 Gene

MT-TS1 (Mitochondrially Encoded TRNA-Ser (UCN) 1) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TS1 include Deafness, Nonsyndromic Sensorineural, Mitochondrial and Keratoderma, Palmoplantar, With Deafness. Among its related pathways are tRNA Aminoacylation.

Rfam classification for MT-TS1 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-TS1 Gene

Genomics for MT-TS1 Gene

Genomic Locations for MT-TS1 Gene

Latest Assembly
chrMT:5,917-7,517
(GRCh38/hg38)
Size:
1,601 bases
Orientation:
Minus strand

Previous Assembly
chrMT:7,446-7,514
(GRCh37/hg19 by Ensembl)
Size:
69 bases
Orientation:
Minus strand

Genomic View for MT-TS1 Gene

Genes around MT-TS1 on UCSC Golden Path with GeneCards custom track
MT-TS1 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TS1 Gene

No data available for GeneHancer (GH) Regulatory Elements for MT-TS1 Gene

Proteins for MT-TS1 Gene

Post-translational modifications for MT-TS1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for MT-TS1 Gene

Domains & Families for MT-TS1 Gene

Gene Families for MT-TS1 Gene

genes like me logo Genes that share domains with MT-TS1: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MT-TS1 Gene

Function for MT-TS1 Gene

Human Phenotype Ontology for MT-TS1 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-TS1 Gene

Localization for MT-TS1 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-TS1 gene
Compartment Confidence
mitochondrion 3
nucleus 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-TS1 Gene

Pathways & Interactions for MT-TS1 Gene

PathCards logo

SuperPathways for MT-TS1 Gene

SuperPathway Contained pathways
1 tRNA Aminoacylation
genes like me logo Genes that share pathways with MT-TS1: view

Pathways by source for MT-TS1 Gene

1 KEGG pathway for MT-TS1 Gene

Gene Ontology (GO) - Biological Process for MT-TS1 Gene

None

No data available for Interacting Proteins and SIGNOR curated interactions for MT-TS1 Gene

Drugs & Compounds for MT-TS1 Gene

No Compound Related Data Available

Transcripts for MT-TS1 Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for MT-TS1 Gene

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS000025B782_9606 tRNA 69 3

Ensembl: ENST00000387416 (view in UCSC) ,

Rfam: RF00005,

ENA: View 3619 records in RNAcentral

URS0001BE869A_9606 tRNA 1409 1

LncBook: HSALNT0279531,

URS0001BD3D95_9606 tRNA 1376 1

LncBook: HSALNT0279530,

URS0001BE3667_9606 tRNA 735 1

LncBook: HSALNT0279529,

URS000077952B_9606 tRNA 73 1

ENA: KF161223.1:7444..7516:tRNA, KF161629.1:7445..7517:tRNA, KF161666.1:7444..7516:tRNA, KF162682.1:7444..7516:tRNA, KM267721.1:7445..7517:tRNA,

MT-TS1 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Alternative Splicing Database (ASD) splice patterns (SP) for MT-TS1 Gene

No ASD Table

Relevant External Links for MT-TS1 Gene

GeneLoc Exon Structure for
MT-TS1

No data available for mRNA/cDNA for MT-TS1 Gene

Expression for MT-TS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MT-TS1 Gene

Phenotype-based relationships between genes and organs from Gene ORGANizer for MT-TS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • inner ear
  • middle ear
  • outer ear
Thorax:
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • kidney
  • pancreas
  • stomach
Limb:
  • foot
  • forearm
  • hand
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with MT-TS1: 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 and Evidence on tissue expression from TISSUES for MT-TS1 Gene

Orthologs for MT-TS1 Gene

Evolution for MT-TS1 Gene

ENSEMBL:
Gene Tree for MT-TS1 (if available)
TreeFam:
Gene Tree for MT-TS1 (if available)
Alliance of Genome Resources:
Additional Orthologs for MT-TS1

No data available for Orthologs for MT-TS1 Gene

Paralogs for MT-TS1 Gene

No data available for Paralogs for MT-TS1 Gene

Variants for MT-TS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MT-TS1 Gene

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
869395 Likely Pathogenic: neonatal lactic acidosis 7,453(-) G/A
NC_012920.1:m.7453G>A
rs1057516061 Uncertain Significance: Myopathy; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 7,496(-) T/C
NC_012920.1:m.7496T>C
rs111033173 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; not specified; not provided 7,468(-) C/T
m.7468C>T
rs111033319 Pathogenic: Deafness, nonsyndromic sensorineural, mitochondrial; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; Deafness, sensorineural, with neurologic features; Mitochondrial cytochrome c oxidase deficiency; Rare genetic deafness. Conflicting Interpretations: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; not specified 7,465(-) A/ACAC/A
NC_012920.1:m.7471dup
rs111033324 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; not specified 7,498(-) G/A
m.7498G>A

Additional Variant Information for MT-TS1 Gene

Human Gene Mutation Database (HGMD)
MT-TS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MT-TS1
Leiden Open Variation Database (LOVD)
MT-TS1

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-TS1 Gene

Disorders for MT-TS1 Gene

MalaCards: The human disease database

(28) MalaCards diseases for MT-TS1 Gene - From: CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MT-TS1

Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MT-TS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MT-TS1 Gene

Publications for MT-TS1 Gene

  1. Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations. (PMID: 20064630) Nishigaki Y … Tanaka M (Mitochondrion 2010) 3 72
  2. MELAS syndrome in a patient with a point mutation in MTTS1. (PMID: 17894844) Lindberg C … Oldfors A (Acta neurologica Scandinavica 2008) 3 72
  3. Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss. (PMID: 17659260) Jin L … Guan MX (Biochemical and biophysical research communications 2007) 3 72
  4. Mutational analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in Tunisian patients with nonsyndromic hearing loss. (PMID: 16406239) Mkaouar-Rebai E … Fakhfakh F (Biochemical and biophysical research communications 2006) 3 40
  5. Prevalence of the A1555G (12S rRNA) and tRNASer(UCN) mitochondrial mutations in hearing-impaired Brazilian patients. (PMID: 16470309) Abreu-Silva RS … Mingroni-Netto RC (Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas 2006) 3 40

Products for MT-TS1 Gene

Sources for MT-TS1 Gene