TARS1
entrez
6897
canonical
uniprot
P26639
canonical
ensembl
ENSG00000113407
resolver
ensp
ENSP00000265112
resolver
ensp
ENSP00000387710
resolver
ensp
ENSP00000424387
resolver
genesymbol
TARS1
resolver
genesymbol_syn
TARS
resolver
hgnc
HGNC:11572
resolver
uniprot
A8K8I1
resolver
uniprot
B4DEG8
resolver
uniprot
Q96FP5
resolver
uniprot
Q9BWA6
resolver
uniprot_entry
SYTC_HUMAN
resolver
uniprot_sec
A8K8I1
resolver
uniprot_sec
B4DEG8
resolver
uniprot_sec
Q96FP5
resolver
uniprot_sec
Q9BWA6
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by borrelidin (BN, IC 50 is 7 nM), which binds to 4 distinct subsites in the protein, preventing binding of all 3 substrates (PubMed:25824639). {ECO:0000269|PubMed:25824639}.
uniprot
proteins
amino_acid_sequence
MFEEKASSPSGKMGGEEKPIGAGEEKQKEGGKKKNKEGSGDGGRAELNPWPEYIYTRLEMYNILKAEHDSILAEKAEKDSKPIKVTLPDGKQVDAESWKTTPYQIACGISQGLADNTVIAKVNNVVWDLDRPLEEDCTLELLKFEDEEAQAVYWHSSAHIMGEAMERVYGGCLCYGPPIENGFYYDMYLEEGGVSSNDFSSLEALCKKIIKEKQAFERLEVKKETLLAMFKYNKFKCRILNEKVNTPTTTVYRCGPLIDLCRGPHVRHTGKIKALKIHKNSSTYWEGKADMETLQRIYGISFPDPKMLKEWEKFQEEAKNRDHRKIGRDQELYFFHELSPGSCFFLPKGAYIYNALIEFIRSEYRKRGFQEVVTPNIFNSRLWMTSGHWQHYSENMFSFEVEKELFALKPMNCPGHCLMFDHRPRSWRELPLRLADFGVLHRNELSGALTGLTRVRRFQQDDAHIFCAMEQIEDEIKGCLDFLRTVYSVFGFSFKLNLSTRPEKFLGDIEVWDQAEKQLENSLNEFGEKWELNSGDGAFYGPKIDIQIKDAIGRYHQCATIQLDFQLPIRFNLTYVSHDGDDKKRPVIVHRAILGSVERMIAILTENYGGKWPFWLSPRQVMVVPVGPTCDEYAQKVRQQFHDAKFMADIDLDPGCTLNKKIRNAQLAQYNFILVVGEKEKISGTVNIRTRDNKVHGERTISETIERLQQLKEFRSKQAEEEF
uniprot
proteins
disease_involvement
DISEASE: Trichothiodystrophy 7, non-photosensitive (TTD7) [MIM:618546]: A form of trichothiodystrophy, a disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD7 patients do not manifest cutaneous photosensitivity. They have cysteine- and threonine-deficient hair with alternating light and dark 'tiger-tail' banding pattern observed under polarization microscopy. Inheritance pattern is autosomal recessive. {ECO:0000269|PubMed:31374204}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.1.1.3
uniprot
proteins
function
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 charged tRNA(Thr) via its editing domain, at the post-transfer stage (By similarity). {ECO:0000250|UniProtKB:Q9D0R2, ECO:0000269|PubMed:25824639, ECO:0000269|PubMed:31374204}.
uniprot
proteins
mass_dalton
83435
uniprot
proteins
mutagenesis
MUTAGEN 392; /note="Y->E: Partially restores in vitro translation."; /evidence="ECO:0000269|PubMed:25824639"; MUTAGEN 458; /note="F->A: Partially restores in vitro translation."; /evidence="ECO:0000269|PubMed:25824639"; MUTAGEN 462; /note="D->L: Does not restore in vitro translation, probably does not bind BN."; /evidence="ECO:0000269|PubMed:25824639"; MUTAGEN 567; /note="L->R,W: Does not restore in vitro translation, does not replace endogenous yeast enzyme."; /evidence="ECO:0000269|PubMed:25824639"; MUTAGEN 567; /note="L->V: Replaces endogenous yeast enzyme."; /evidence="ECO:0000269|PubMed:25824639
uniprot
proteins
post_translational_modification
PTM: ISGylated. {ECO:0000269|PubMed:16139798}.
uniprot
proteins
protein_family
Class-II aminoacyl-tRNA synthetase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16139798
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
2033077
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25824639
uniprot
proteins
pubmed
31374204
uniprot
proteins
sequence_length
723
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9D0R2}.
uniprot
proteins