Protein basic information
| LiverAtlas Protein ID |
HuLPr46452 |
|
Uniprot ID |
|
|
Uniprot Acc |
Q6PI48; |
|
Protein name |
Aspartyl-tRNA synthetase, mitochondrial |
|
Comment |
CATALYTIC ACTIVITY:ATP + L-aspartate + tRNA(Asp) = AMP + diphosphate + L-aspartyl-tRNA(Asp).||SUBUNIT:Homodimer.||SUBCELLULAR LOCATION:Mitochondrion matrix.||DISEASE:Defects in DARS2 are a cause of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]. LBSL is an 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.||SIMILARITY:Belongs to the class-II aminoacyl-tRNA synthetase family.||WEB RESOURCE:Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DARS2"; |
|
Subcellular localization |
Mitochondrion matrix. |
|
Gene name |
|
|
Protein sequence
|
MYFPSWLSQLYRGLSRPIRRTTQPIWGSLYRSLLQSSQRR IPEFSSFVVRTNTCGELRSSHLGQEVTLCGWIQYRRQNT FLVLRDFDGLVQVIIPQDESAASVKKILCEAPVESVVQV SGTVISRPAGQENPKMPTGEIEIKVKTAELLNACKKLPF EIKNFVKKTEALRLQYRYLDLRSFQMQYNLRLRSQMVMK MREYLCNLHGFVDIETPTLFKRTPGGAKEFLVPSREPGK FYSLPQSPQQFKQLLMVGGLDRYFQVARCYRDEGSRPDR QPEFTQIDIEMSFVDQTGIQSLIEGLLQYSWPNDKDPVV VPFPTMTFAEVLATYGTDKPDTRFGMKIIDISDVFRNTE IGFLQDALSKPHGTVKAICIPEGAKYLKRKDIESIRNFA ADHFNQEILPVFLNANRNWNSPVANFIMESQRLELIRLM ETQEEDVVLLTAGEHNKACSLLGKLRLECADLLETRGVV LRDPTLFSFLWVVDFPLFLPKEENPRELESAHHPFTAPH PSDIHLLYTEPKKARSQHYDLVLNGNEIGGGSIRIHNAE LQRYILATLLKEDVKMLSHLLQALDYGAPPHGGIALGLD RLICLVTGSPSIRDVIAFPKSFRGHDLMSNTPDSVPPEE LKPYHIRVSKPTDSKAERAH |
|
Database cross reference |
RefSeq Protein accession:NP_060592
|
Liver relevance
|
HLPP validation |
Yes/No |
Yes |
|
Project name |
Chinese Liver;French Liver;Human Liver Organelles; |
Ontology annotation
| GO-C |
GO:0005759;C:mitochondrial matrix;TAS:Reactome. GO:0005634;C:nucleus;IDA:HPA. |
|
GO-F |
GO:0004815;F:aspartate-tRNA ligase activity;TAS:Reactome. GO:0005524;F:ATP binding;IEA:UniProtKB-KW. GO:0003676;F:nucleic acid binding;IEA:InterPro. |
|
GO-P |
GO:0006422;P:aspartyl-tRNA aminoacylation;IEA:InterPro. |
Post-translational modification
| LiverAtlas Protein ID |
MOD type1 |
Position1 |
Residue1 |
Source name1 |
source ID1 |
Source method |
HLPP validation1 (Yes/no) |
Quality score |
|
HuLPr46452 |
PHOSPHORYLATION |
242 |
S |
PhosphoSitePlus |
LTP HTP |
N |
 
|
|
|
HuLPr46452 |
ACETYLATION |
142 |
K |
PhosphoSitePlus |
LTP |
N |
|
|
|
HuLPr46452 |
ACETYLATION |
382 |
K |
PhosphoSitePlus |
HTP |
N |
|
|
|
HuLPr46452 |
ACETYLATION |
627 |
K |
PhosphoSitePlus |
LTP |
N |
|
|
|
HuLPr46452 |
ACETYLATION |
235 |
K |
PhosphoSitePlus |
LTP |
N |
|
