TARS1 (threonyl-tRNA synthetase 1)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6897
Gene name Threonyl-tRNA synthetase 1
Gene symbol TARS1
Synonyms (NCBI Gene)
TARSTTD7ThrRS
Chromosome 5
Chromosome location 5p13.3
Summary Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first prot
SNPs SNP information provided by dbSNP.
3
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs749888012 C>T Pathogenic Non coding transcript variant, coding sequence variant, stop gained
rs1579584983 T>C Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs1579585658 A>G Pathogenic Non coding transcript variant, missense variant, coding sequence variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (25)
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IEA
GO:0000166 Function Nucleotide binding IEA
GO:0003723 Function RNA binding IEA
GO:0004812 Function Aminoacyl-tRNA ligase activity IEA
GO:0004829 Function Threonine-tRNA ligase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
187790 11572 ENSG00000113407
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P26639
Protein name Threonine--tRNA ligase 1, cytoplasmic (EC 6.1.1.3) (Threonyl-tRNA synthetase) (ThrRS) (Threonyl-tRNA synthetase 1)
Protein function Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr) (PubMed:25824639, PubMed:31374204). Also edits incorrectly charg
PDB 1WWT , 4HWT , 4P3N , 4TTV , 5XLN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02824 TGS 83 → 143 TGS domain Domain
PF07973 tRNA_SAD 249 → 298 Threonyl and Alanyl tRNA synthetase second additional domain Domain
PF00587 tRNA-synt_2b 397 → 608 tRNA synthetase class II core domain (G, H, P, S and T) Domain
PF03129 HGTP_anticodon 620 → 711 Anticodon binding domain Domain
Sequence 
MFEEKASSPSGKMGGEEKPIGAGEEKQKEGGKKKNKEGSGDGGRAELNPWPEYIYTRLEM
YNILKAEHDSILAEKAEKDSKPIKVTLPDGKQVDAESWKTTPYQIACGISQGLADNTVIA
KVNNVVWDLDRPLEEDCTLELLKFEDEEAQAVYWHSSAHIMGEAMERVYGGCLCYGPPIE
NGFYYDMYLEEGGVSSNDFSSLEALCKKIIKEKQAFERLEVKKETLLAMFKYNKFKCRIL
NEKVNTPTTTVYRCGPLIDLCRGPHVRHTGKIKALKIHKNSSTYWEGKADMETLQRIYGI
SFPDPKMLKEWEKFQEEAKNRDHRKIGRDQELYFFHELSPGSCFFLPKGAYIYNALIEFI
RSEYRKRGFQEVVTPNIFNSRLWMTSGHWQHYSENMFSFEVEKELFALKPMNCPGHCLMF
DHRPRSWRELPLRLADFGVLHRNELSGALTGLTRVRRFQQDDAHIFCAMEQIEDEIKGCL
DFLRTVYSVFGFSFKLNLSTRPEKFLGDIEVWDQAEKQLENSLNEFGEKWELNSGDGAFY
GPKIDIQIKDAIGRYHQCATIQLDFQLPIRFNLTYVSHDGDDKKRPVIVHRAILGSVERM
IAILTENYGGKWPFWLSPRQVMVVPVGPTCDEYAQKVRQQFHDAKFMADIDLDPGCTLNK
KIRNAQLAQYNFILVVGEKEKISGTVNIRTRDNKVHGERTISETIERLQQLKEFRSKQAE
EEF
Sequence length 723
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Aminoacyl-tRNA biosynthesis   Cytosolic tRNA aminoacylation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
46
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Trichothiodystrophy 7, nonphotosensitive Pathogenic rs749888012, rs1579585658, rs1579584983 RCV000850111
RCV000850112
RCV000850113
Show/Hide Unknown Diseases (15)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs75319890 RCV005935259
Cervical cancer Benign rs75319890 RCV005935262
Colon adenocarcinoma Likely benign rs35931457 RCV005871439
Familial cancer of breast Likely benign rs35931457 RCV005871438
Show/Hide Text Mining Associations (15)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 27161446
Autoimmune Diseases Associate 23425968
Breast Neoplasms Associate 34868337, 38358781
Carcinoma Ovarian Epithelial Associate 25163878
Endometrial Neoplasms Associate 36881401
Immunologic Deficiency Syndromes Associate 37742077
Inflammation Associate 23425968
Myositis Associate 16609350, 23425968
Neoplasm Metastasis Stimulate 34159625
Neoplasms Associate 25163878, 29328069, 34159625