Q9BW92 · SYTM_HUMAN

  • Protein
    Threonine--tRNA ligase, mitochondrial
  • Gene
    TARS2
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

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.

Kinetics

KM SUBSTRATE pH TEMPERATURE[C] NOTES EVIDENCE
2.5 mML-threonine
1.1 μMtRNA(Thr)
180 mML-serine
kcat is 5.8 sec-1 for the activation reaction of L-threonine. kcat is 1.1 sec-1 for the activation reaction of L-serine. kcat is 0.061 sec-1 for the aminoacylation of tRNA(Thr) with L-threonine.

GO annotations

AspectTerm
Cellular Componentmitochondrial matrix
Molecular Functionaminoacyl-tRNA editing activity
Molecular FunctionATP binding
Molecular Functionprotein homodimerization activity
Molecular Functionthreonine-tRNA ligase activity
Biological Processmitochondrial threonyl-tRNA aminoacylation
Biological Processthreonyl-tRNA aminoacylation

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Threonine--tRNA ligase, mitochondrial
  • EC number
  • Alternative names
    • Threonyl-tRNA synthetase (ThrRS)
    • Threonyl-tRNA synthetase-like 1

Gene names

    • Name
      TARS2
    • Synonyms
      TARSL1

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    Q9BW92
  • Secondary accessions
    • Q53GW7
    • Q96I50
    • Q9H9V2

Proteomes

Organism-specific databases

Subcellular Location

Keywords

Disease & Variants

Involvement in disease

Combined oxidative phosphorylation deficiency 21 (COXPD21)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    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.
  • See also
    MIM:615918
Natural variants in COXPD21
Variant IDPosition(s)ChangeDescription
VAR_071853282P>Lin COXPD21; decreased expression at mRNA and protein levels; decreased threonine-tRNA ligase activity; affects both Thr activation and transfer; decreased aminoacyl-tRNA editing activity; decreased protein stability; loss of homodimerization; dbSNP:rs587777593

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_071853282in COXPD21; decreased expression at mRNA and protein levels; decreased threonine-tRNA ligase activity; affects both Thr activation and transfer; decreased aminoacyl-tRNA editing activity; decreased protein stability; loss of homodimerization; dbSNP:rs587777593

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 708 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Chemistry

Genetic variation databases

PTM/Processing

Features

Showing features for chain, transit peptide, modified residue.

TypeIDPosition(s)Description
ChainPRO_0000254586?-718Threonine--tRNA ligase, mitochondrial
Transit peptide1-?Mitochondrion
Modified residue52Phosphoserine

Keywords

Proteomic databases

PTM databases

Expression

Gene expression databases

Organism-specific databases

Structure

Family & Domains

Features

Showing features for domain.

TypeIDPosition(s)Description
Domain55-121TGS

Sequence similarities

Keywords

Phylogenomic databases

Family and domain databases

Sequence & Isoform

Align isoforms (2)
  • Sequence status
    Complete
  • Sequence processing
    The displayed sequence is further processed into a mature form.

This entry describes 2 isoforms produced by Alternative splicing.

Q9BW92-1

This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

  • Length
    718
  • Mass (Da)
    81,036
  • Last updated
    2001-06-01 v1
  • Checksum
    A2F793A60483E7F9
MALYQRWRCLRLQGLQACRLHTAVVSTPPRWLAERLGLFEELWAAQVKRLASMAQKEPRTIKISLPGGQKIDAVAWNTTPYQLARQISSTLADTAVAAQVNGEPYDLERPLETDSDLRFLTFDSPEGKAVFWHSSTHVLGAAAEQFLGAVLCRGPSTEYGFYHDFFLGKERTIRGSELPVLERICQELTAAARPFRRLEASRDQLRQLFKDNPFKLHLIEEKVTGPTATVYGCGTLVDLCQGPHLRHTGQIGGLKLLSNSSSLWRSSGAPETLQRVSGISFPTTELLRVWEAWREEAELRDHRRIGKEQELFFFHELSPGSCFFLPRGTRVYNALVAFIRAEYAHRGFSEVKTPTLFSTKLWEQSGHWEHYQEDMFAVQPPGSDRPPSSQSDDSTRHITDTLALKPMNCPAHCLMFAHRPRSWRELPLRLADFGALHRAEASGGLGGLTRLRCFQQDDAHIFCTTDQLEAEIQSCLDFLRSVYAVLGFSFRLALSTRPSGFLGDPCLWDQAEQVLKQALKEFGEPWDLNSGDGAFYGPKIDVHLHDALGRPHQCGTIQLDFQLPLRFDLQYKGQAGALERPVLIHRAVLGSVERLLGVLAESCGGKWPLWLSPFQVVVIPVGSEQEEYAKEAQQSLRAAGLVSDLDADSGLTLSRRIRRAQLAHYNFQFVVGQKEQSKRTVNIRTRDNRRLGEWDLPEAVQRLVELQNTRVPNAEEIF

Q9BW92-2

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

Computationally mapped potential isoform sequences

There are 3 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
Q5T5E9Q5T5E9_HUMANTARS2135
U3KQ50U3KQ50_HUMANTARS2143
U3KQG0U3KQG0_HUMANTARS2636

Features

Showing features for alternative sequence, sequence conflict.

TypeIDPosition(s)Description
Alternative sequenceVSP_054537211-340in isoform 2
Sequence conflict269in Ref. 2; BAD96534
Sequence conflict579in Ref. 2; BAD96534

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
AK022590
EMBL· GenBank· DDBJ
BAB14117.1
EMBL· GenBank· DDBJ
mRNA
AK222814
EMBL· GenBank· DDBJ
BAD96534.1
EMBL· GenBank· DDBJ
mRNA
AL356356
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
CH471121
EMBL· GenBank· DDBJ
EAW53549.1
EMBL· GenBank· DDBJ
Genomic DNA
BC000541
EMBL· GenBank· DDBJ
AAH00541.1
EMBL· GenBank· DDBJ
mRNA
BC007824
EMBL· GenBank· DDBJ
AAH07824.2
EMBL· GenBank· DDBJ
mRNA
BC009997
EMBL· GenBank· DDBJ
AAH09997.1
EMBL· GenBank· DDBJ
mRNA

Genome annotation databases

Similar Proteins

Disclaimer

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