TARS2
entrez
80222
canonical
uniprot
Q9BW92
canonical
ensembl
ENSG00000143374
resolver
ensp
ENSP00000358050
resolver
ensp
ENSP00000358060
resolver
ensp
ENSP00000475847
resolver
ensp
ENSP00000565479
resolver
ensp
ENSP00000565480
resolver
ensp
ENSP00000565481
resolver
ensp
ENSP00000565482
resolver
enst
ENST00000606933
resolver
genesymbol
TARS2
resolver
genesymbol_syn
TARSL1
resolver
hgnc
HGNC:30740
resolver
uniprot
Q53GW7
resolver
uniprot
Q96I50
resolver
uniprot
Q9H9V2
resolver
uniprot
U3KQG0
resolver
uniprot_entry
SYTM_HUMAN
resolver
uniprot_entry
U3KQG0_HUMAN
resolver
uniprot_sec
Q53GW7
resolver
uniprot_sec
Q96I50
resolver
uniprot_sec
Q9H9V2
resolver
amino_acid_sequence
MALYQRWRCLRLQGLQACRLHTAVVSTPPRWLAERLGLFEELWAAQVKRLASMAQKEPRTIKISLPGGQKIDAVAWNTTPYQLARQISSTLADTAVAAQVNGEPYDLERPLETDSDLRFLTFDSPEGKAVFWHSSTHVLGAAAEQFLGAVLCRGPSTEYGFYHDFFLGKERTIRGSELPVLERICQELTAAARPFRRLEASRDQLRQLFKDNPFKLHLIEEKVTGPTATVYGCGTLVDLCQGPHLRHTGQIGGLKLLSNSSSLWRSSGAPETLQRVSGISFPTTELLRVWEAWREEAELRDHRRIGKEQELFFFHELSPGSCFFLPRGTRVYNALVAFIRAEYAHRGFSEVKTPTLFSTKLWEQSGHWEHYQEDMFAVQPPGSDRPPSSQSDDSTRHITDTLALKPMNCPAHCLMFAHRPRSWRELPLRLADFGALHRAEASGGLGGLTRLRCFQQDDAHIFCTTDQLEAEIQSCLDFLRSVYAVLGFSFRLALSTRPSGFLGDPCLWDQAEQVLKQALKEFGEPWDLNSGDGAFYGPKIDVHLHDALGRPHQCGTIQLDFQLPLRFDLQYKGQAGALERPVLIHRAVLGSVERLLGVLAESCGGKWPLWLSPFQVVVIPVGSEQEEYAKEAQQSLRAAGLVSDLDADSGLTLSRRIRRAQLAHYNFQFVVGQKEQSKRTVNIRTRDNRRLGEWDLPEAVQRLVELQNTRVPNAEEIF
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 21 (COXPD21) [MIM:615918]: A mitochondrial disorder characterized by a lethal encephalomyopathy. Shortly after birth, affected individuals manifest axial hypotonia, limb hypertonia, psychomotor delay, and increased serum lactate. Additional features include subsarcolemmal lipofuscin-positive deposits in muscle, cerebral spongiosis, and hepatic steatosis. {ECO:0000269|PubMed:24827421, ECO:0000269|PubMed:26811336}. 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). Also edits incorrectly charged tRNA(Thr) via its editing domain. {ECO:0000269|PubMed:26811336}.
uniprot
proteins
mass_dalton
81036
uniprot
proteins
protein_family
Class-II aminoacyl-tRNA synthetase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15779907
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
24827421
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26811336
uniprot
proteins
sequence_length
718
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250}.
uniprot
proteins