DARS1
entrez
1615
canonical
uniprot
P14868
canonical
ensembl
ENSG00000115866
resolver
ensp
ENSP00000264161
resolver
genesymbol
DARS1
resolver
genesymbol_syn
DARS
resolver
hgnc
HGNC:2678
resolver
uniprot
A0A140VJW5
resolver
uniprot
A8K3J2
resolver
uniprot
D3DP77
resolver
uniprot
Q2TNI3
resolver
uniprot
Q32Q69
resolver
uniprot
Q53HV4
resolver
uniprot
Q53YC5
resolver
uniprot
Q68CR9
resolver
uniprot
Q9BW52
resolver
uniprot_entry
A0A140VJW5_HUMAN
resolver
uniprot_entry
SYDC_HUMAN
resolver
uniprot_sec
A8K3J2
resolver
uniprot_sec
D3DP77
resolver
uniprot_sec
Q2TNI3
resolver
uniprot_sec
Q32Q69
resolver
uniprot_sec
Q53HV4
resolver
uniprot_sec
Q53YC5
resolver
uniprot_sec
Q68CR9
resolver
uniprot_sec
Q9BW52
resolver
amino_acid_sequence
MPSASASRKSQEKPREIMDAAEDYAKERYGISSMIQSQEKPDRVLVRVRDLTIQKADEVVWVRARVHTSRAKGKQCFLVLRQQQFNVQALVAVGDHASKQMVKFAANINKESIVDVEGVVRKVNQKIGSCTQQDVELHVQKIYVISLAEPRLPLQLDDAVRPEAEGEEEGRATVNQDTRLDNRVIDLRTSTSQAVFRLQSGICHLFRETLINKGFVEIQTPKIISAASEGGANVFTVSYFKNNAYLAQSPQLYKQMCICADFEKVFSIGPVFRAEDSNTHRHLTEFVGLDIEMAFNYHYHEVMEEIADTMVQIFKGLQERFQTEIQTVNKQFPCEPFKFLEPTLRLEYCEALAMLREAGVEMGDEDDLSTPNEKLLGHLVKEKYDTDFYILDKYPLAVRPFYTMPDPRNPKQSNSYDMFMRGEEILSGAQRIHDPQLLTERALHHGIDLEKIKAYIDSFRFGAPPHAGGGIGLERVTMLFLGLHNVRQTSMFPRDPKRLTP
uniprot
proteins
disease_involvement
DISEASE: Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281]: An autosomal recessive leukoencephalopathy characterized by onset in the first year of life of severe spasticity, mainly affecting the lower limbs and resulting in an inability to achieve independent ambulation. Affected individuals show delayed motor development and nystagmus; some may have mild intellectual disability. Brain MRI shows hypomyelination and white matter lesions in the cerebrum, brainstem, cerebellum, and spinal cord. {ECO:0000269|PubMed:23643384}. 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 specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. {ECO:0000250|UniProtKB:P15178}.
uniprot
proteins
mass_dalton
57136
uniprot
proteins
protein_family
Class-II aminoacyl-tRNA synthetase family
uniprot
proteins
protein_family
Type 2 subfamily
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18029264
uniprot
proteins
pubmed
19131329
uniprot
proteins
pubmed
19289464
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23609930
uniprot
proteins
pubmed
23643384
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
2674137
uniprot
proteins
sequence_length
501
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:19289464}.
uniprot
proteins