Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

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

25 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
GO:0004829	Function	Threonine-tRNA ligase activity	IDA	25824639
GO:0004829	Function	Threonine-tRNA ligase activity	IEA
GO:0004829	Function	Threonine-tRNA ligase activity	ISS
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	IMP	25824639
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006412	Process	Translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	IEA
GO:0006435	Process	Threonyl-tRNA aminoacylation	IBA
GO:0006435	Process	Threonyl-tRNA aminoacylation	IDA	25824639
GO:0006435	Process	Threonyl-tRNA aminoacylation	IEA
GO:0006435	Process	Threonyl-tRNA aminoacylation	ISS
GO:0008270	Function	Zinc ion binding	IDA	25824639
GO:0016874	Function	Ligase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	25824639
GO:0043039	Process	TRNA aminoacylation	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337

MIM	HGNC	e!Ensembl
187790	11572	ENSG00000113407

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
PF00587	tRNA-synt_2b	397 → 608	tRNA synthetase class II core domain (G, H, P, S and T)	Domain
PF02824	TGS	83 → 143	TGS domain	Domain
PF03129	HGTP_anticodon	620 → 711	Anticodon binding domain	Domain
PF07973	tRNA_SAD	249 → 298	Threonyl and Alanyl tRNA synthetase second additional domain	Domain

Sequence

MFEEKASSPSGKMGGEEKPIGAGEEKQKEGGKKKNKEGSGDGGRAELNPWPEYIYTRLEM
YNILKAEHDSILAEKAEKDSKPIKVTLPDGKQVDAESWKTTPYQIACGISQGLADNTVIA
KVNNVVWDLDRPLEEDCTLELLKFEDEEAQAVYWHSSAHIMGEAMERVYGGCLCYGPPIE
NGFYYDMYLEEGGVSSNDFSSLEALCKKIIKEKQAFERLEVKKETLLAMFKYNKFKCRIL
NEKVNTPTTTVYRCGPLIDLCRGPHVRHTGKIKALKIHKNSSTYWEGKADMETLQRIYGI
SFPDPKMLKEWEKFQEEAKNRDHRKIGRDQELYFFHELSPGSCFFLPKGAYIYNALIEFI
RSEYRKRGFQEVVTPNIFNSRLWMTSGHWQHYSENMFSFEVEKELFALKPMNCPGHCLMF
DHRPRSWRELPLRLADFGVLHRNELSGALTGLTRVRRFQQDDAHIFCAMEQIEDEIKGCL
DFLRTVYSVFGFSFKLNLSTRPEKFLGDIEVWDQAEKQLENSLNEFGEKWELNSGDGAFY
GPKIDIQIKDAIGRYHQCATIQLDFQLPIRFNLTYVSHDGDDKKRPVIVHRAILGSVERM
IAILTENYGGKWPFWLSPRQVMVVPVGPTCDEYAQKVRQQFHDAKFMADIDLDPGCTLNK
KIRNAQLAQYNFILVVGEKEKISGTVNIRTRDNKVHGERTISETIERLQQLKEFRSKQAE
EEF

Sequence length

723

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Aminoacyl-tRNA biosynthesis	Cytosolic tRNA aminoacylation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Trichothiodystrophy 7, nonphotosensitive	Pathogenic	rs749888012, rs1579585658, rs1579584983	RCV000850111 RCV000850112 RCV000850113	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (22)
Acute myeloid leukemia	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	30217971	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC FIBROSIS ASSOCIATED MECONIUM ILEUS	—	GWAS catalog	30807572	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	30217971	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS	—	CTD, Disgenet CTD, Disgenet	23425968	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TARS1-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICHOTHIODYSTROPHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	31374204, 31374204	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICHOTHIODYSTROPHY SYNDROMES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (24)
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	2999237, 6323614		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	23425968	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34868337, 38358781	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	25163878	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	25163878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36881401	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	16609350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	CTD_human_DG	23425968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	6323614		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	25163878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	16609350, 23425968	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myositis	Myositis	CTD_human_DG	23425968		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myositis, Focal	Myositis	CTD_human_DG	23425968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis, Proliferative	Myositis	CTD_human_DG	23425968		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	25163878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25163878	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	29328069	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Phrynoderma	Phrynoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35715770	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34159625	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichothiodystrophy	Trichothiodystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	18559093	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TARS1 (threonyl-tRNA synthetase 1)

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