DARS2
entrez
55157
canonical
uniprot
Q6PI48
canonical
ensembl
ENSG00000117593
resolver
ensp
ENSP00000497472
resolver
ensp
ENSP00000497569
resolver
ensp
ENSP00000497874
resolver
enst
ENST00000648458
resolver
enst
ENST00000648807
resolver
enst
ENST00000649689
resolver
genesymbol
DARS2
resolver
hgnc
HGNC:25538
resolver
uniprot
A0A3B3IT01
resolver
uniprot
A0A3B3ITS3
resolver
uniprot
Q9H9J7
resolver
uniprot_entry
A0A3B3IT01_HUMAN
resolver
uniprot_entry
A0A3B3ITS3_HUMAN
resolver
uniprot_entry
Q9H9J7_HUMAN
resolver
uniprot_entry
SYDM_HUMAN
resolver
amino_acid_sequence
MYFPSWLSQLYRGLSRPIRRTTQPIWGSLYRSLLQSSQRRIPEFSSFVVRTNTCGELRSSHLGQEVTLCGWIQYRRQNTFLVLRDFDGLVQVIIPQDESAASVKKILCEAPVESVVQVSGTVISRPAGQENPKMPTGEIEIKVKTAELLNACKKLPFEIKNFVKKTEALRLQYRYLDLRSFQMQYNLRLRSQMVMKMREYLCNLHGFVDIETPTLFKRTPGGAKEFLVPSREPGKFYSLPQSPQQFKQLLMVGGLDRYFQVARCYRDEGSRPDRQPEFTQIDIEMSFVDQTGIQSLIEGLLQYSWPNDKDPVVVPFPTMTFAEVLATYGTDKPDTRFGMKIIDISDVFRNTEIGFLQDALSKPHGTVKAICIPEGAKYLKRKDIESIRNFAADHFNQEILPVFLNANRNWNSPVANFIMESQRLELIRLMETQEEDVVLLTAGEHNKACSLLGKLRLECADLLETRGVVLRDPTLFSFLWVVDFPLFLPKEENPRELESAHHPFTAPHPSDIHLLYTEPKKARSQHYDLVLNGNEIGGGSIRIHNAELQRYILATLLKEDVKMLSHLLQALDYGAPPHGGIALGLDRLICLVTGSPSIRDVIAFPKSFRGHDLMSNTPDSVPPEELKPYHIRVSKPTDSKAERAH
uniprot
proteins
disease_involvement
DISEASE: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]: Autosomal recessive disease and is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy. Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline. {ECO:0000269|PubMed:17384640, ECO:0000269|PubMed:30006346}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease, axonal, type 2LL (CMT2LL) [MIM:621485]: An autosomal recessive, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2LL is characterized by childhood-onset progressive gait difficulties, distal muscle weakness and atrophy, and areflexia. Central nervous system involvement with impaired intellectual development and epilepsy may be present. {ECO:0000269|PubMed:40814755}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.1.1.12
uniprot
proteins
function
FUNCTION: Catalyzes the attachment of aspartate to tRNA(Asp) in a two-step reaction: aspartate is first activated by ATP to form Asp-AMP and then transferred to the acceptor end of tRNA(Asp). {ECO:0000269|PubMed:15779907, ECO:0000269|PubMed:23275545, ECO:0000269|PubMed:40814755}.
uniprot
proteins
mass_dalton
73563
uniprot
proteins
mutagenesis
MUTAGEN 58; /note="R->G: No effect on its mitochondria localization."; /evidence="ECO:0000269|PubMed:30006346"; MUTAGEN 136; /note="T->S: No effect on its mitochondria localization."; /evidence="ECO:0000269|PubMed:30006346"; MUTAGEN 153; /note="K->R: Displays low levels of polyubiquitylation."; /evidence="ECO:0000269|PubMed:39039092"; MUTAGEN 338; /note="G->E: No effect on its mitochondria localization."; /evidence="ECO:0000269|PubMed:30006346"; MUTAGEN 368; /note="K->R: Displays decreased acetylation and high-levels of polyubiquitylation."; /evidence="ECO:0000269|PubMed:39039092"; MUTAGEN 558; /note="K->R: Displays low levels of polyubiquitylation."; /evidence="ECO:0000269|PubMed:39039092"; MUTAGEN 640; /note="K->R: Displays low levels of polyubiquitylation."; /evidence="ECO:0000269|PubMed:39039092
uniprot
proteins
post_translational_modification
PTM: Acetylated; acetylation protects from ubiquitin-mediated degradation. {ECO:0000269|PubMed:39039092}.; PTM: Ubiquitinated by the SCF-FBXO24 E3 ubiquitin ligase, leading to proteasomal degradation. {ECO:0000269|PubMed:39039092}.
uniprot
proteins
protein_family
Class-II aminoacyl-tRNA synthetase family
uniprot
proteins
protein_family
Type 1 subfamily
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15779907
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17384640
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23275545
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30006346
uniprot
proteins
pubmed
39039092
uniprot
proteins
pubmed
40814755
uniprot
proteins
sequence_length
645
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:15779907, ECO:0000269|PubMed:30006346}. Mitochondrion membrane {ECO:0000269|PubMed:30006346, ECO:0000269|PubMed:40814755}.
uniprot
proteins