TARS1 (threonyl-tRNA synthetase 1)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6897
Gene name Gene Name - the full gene name approved by the HGNC.
Threonyl-tRNA synthetase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TARS1
Synonyms (NCBI Gene) Gene synonyms aliases
TARS, TTD7, ThrRS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
TTD7
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IEA
GO:0004829 Function Threonine-tRNA ligase activity IBA 21873635
GO:0004829 Function Threonine-tRNA ligase activity IDA 25824639
GO:0004829 Function Threonine-tRNA ligase activity ISS
GO:0005515 Function Protein binding IPI 25416956, 32296183, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
187790 11572 ENSG00000113407
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Ichthyosis Ichthyoses rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Trichothiodystrophy Trichothiodystrophy rs137853117, rs587776531, rs587776532, rs878854339, rs121434364, rs121434365, rs121913046, rs121913047, rs121913018, rs121913020, rs121913021, rs121913026, rs144564120, rs794726863, rs768342562
View all (10 more)
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Pancreatic cancer Pancreatic cancer Genome-Wide CRISPR Screening Identifies DCK and CCNL1 as Genes That Contribute to Gemcitabine Resistance in Pancreatic Cancer GWAS, CBGDA
Show/Hide Text Mining Associations (15)
Associations from Text Mining
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