UniProtKB - Q6PI48 (SYDM_HUMAN)
Protein
Aspartate--tRNA ligase, mitochondrial
Gene
DARS2
Organism
Homo sapiens (Human)
Status
Functioni
Catalytic activityi
- EC:6.1.1.122 Publications
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 266 | AspartateBy similarity | 1 | |
Binding sitei | 535 | ATPBy similarity | 1 | |
Binding sitei | 542 | AspartateBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 266 – 268 | ATPBy similarity | 3 | |
Nucleotide bindingi | 584 – 587 | ATPBy similarity | 4 |
GO - Molecular functioni
- aspartate-tRNA(Asn) ligase activity Source: BHF-UCL
- aspartate-tRNA ligase activity Source: UniProtKB
- ATP binding Source: BHF-UCL
- protein homodimerization activity Source: UniProtKB
- tRNA binding Source: BHF-UCL
GO - Biological processi
- mitochondrial asparaginyl-tRNA aminoacylation Source: UniProtKB
- tRNA aminoacylation Source: BHF-UCL
- tRNA aminoacylation for protein translation Source: Reactome
Keywordsi
Molecular function | Aminoacyl-tRNA synthetase, Ligase |
Biological process | Protein biosynthesis |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 6.1.1.12, 2681 |
PathwayCommonsi | Q6PI48 |
Reactomei | R-HSA-379726, Mitochondrial tRNA aminoacylation |
Names & Taxonomyi
Protein namesi | Recommended name: Aspartate--tRNA ligase, mitochondrial (EC:6.1.1.122 Publications)Alternative name(s): Aspartyl-tRNA synthetase Short name: AspRS |
Gene namesi | Name:DARS2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000117593.9 |
HGNCi | HGNC:25538, DARS2 |
MIMi | 610956, gene |
neXtProti | NX_Q6PI48 |
Subcellular locationi
Mitochondrion
- Mitochondrion matrix 1 Publication
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrion Source: HPA
Nucleus
- nucleoplasm Source: HPA
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_037015 | 45 | S → G in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918209EnsemblClinVar. | 1 | |
Natural variantiVAR_037016 | 152 | C → F in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918208EnsemblClinVar. | 1 | |
Natural variantiVAR_037017 | 179 | R → H in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918210EnsemblClinVar. | 1 | |
Natural variantiVAR_037018 | 184 | Q → K in LBSL. 1 PublicationCorresponds to variant dbSNP:rs1469160736Ensembl. | 1 | |
Natural variantiVAR_037019 | 248 | Q → K in LBSL. 1 PublicationCorresponds to variant dbSNP:rs772489337Ensembl. | 1 | |
Natural variantiVAR_037020 | 263 | R → Q in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918207EnsemblClinVar. | 1 | |
Natural variantiVAR_037021 | 560 | D → V in LBSL. 1 PublicationCorresponds to variant dbSNP:rs770525873Ensembl. | 1 | |
Natural variantiVAR_037022 | 613 | L → F in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918212EnsemblClinVar. | 1 | |
Natural variantiVAR_037023 | 626 | L → Q in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918213EnsemblClinVar. | 1 | |
Natural variantiVAR_037024 | 626 | L → V in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918205EnsemblClinVar. | 1 | |
Natural variantiVAR_037025 | 629 | Y → C in LBSL. 1 PublicationCorresponds to variant dbSNP:rs761675657Ensembl. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 55157 |
GeneReviewsi | DARS2 |
MalaCardsi | DARS2 |
MIMi | 611105, phenotype |
OpenTargetsi | ENSG00000117593 |
Orphaneti | 137898, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
PharmGKBi | PA142672015 |
Miscellaneous databases
Pharosi | Q6PI48, Tbio |
Chemistry databases
DrugBanki | DB00128, Aspartic acid |
Polymorphism and mutation databases
BioMutai | DARS2 |
DMDMi | 74758347 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 47 | MitochondrionSequence analysisAdd BLAST | 47 | |
ChainiPRO_0000250736 | 48 – 645 | Aspartate--tRNA ligase, mitochondrialAdd BLAST | 598 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 219 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 242 | PhosphoserineCombined sources | 1 | |
Modified residuei | 382 | N6-acetyllysineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q6PI48 |
jPOSTi | Q6PI48 |
MassIVEi | Q6PI48 |
MaxQBi | Q6PI48 |
PaxDbi | Q6PI48 |
PeptideAtlasi | Q6PI48 |
PRIDEi | Q6PI48 |
ProteomicsDBi | 67139 |
PTM databases
iPTMneti | Q6PI48 |
PhosphoSitePlusi | Q6PI48 |
SwissPalmi | Q6PI48 |
Expressioni
Gene expression databases
Bgeei | ENSG00000117593, Expressed in heart and 148 other tissues |
ExpressionAtlasi | Q6PI48, baseline and differential |
Genevisiblei | Q6PI48, HS |
Organism-specific databases
HPAi | ENSG00000117593, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer.
2 PublicationsBinary interactionsi
Hide detailsQ6PI48
GO - Molecular functioni
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 120459, 56 interactors |
IntActi | Q6PI48, 34 interactors |
MINTi | Q6PI48 |
STRINGi | 9606.ENSP00000355086 |
Miscellaneous databases
RNActi | Q6PI48, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 244 – 247 | AspartateBy similarity | 4 |
Sequence similaritiesi
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG2411, Eukaryota |
GeneTreei | ENSGT01010000222368 |
HOGENOMi | CLU_014330_3_1_1 |
InParanoidi | Q6PI48 |
OMAi | YQLDVEM |
OrthoDBi | 697974at2759 |
PhylomeDBi | Q6PI48 |
TreeFami | TF314827 |
Family and domain databases
Gene3Di | 3.30.1360.30, 1 hit |
HAMAPi | MF_00044, Asp_tRNA_synth_type1, 1 hit |
InterProi | View protein in InterPro IPR004364, Aa-tRNA-synt_II IPR006195, aa-tRNA-synth_II IPR004524, Asp-tRNA-ligase_1 IPR002312, Asp/Asn-tRNA-synth_IIb IPR004115, GAD-like_sf IPR029351, GAD_dom IPR012340, NA-bd_OB-fold IPR004365, NA-bd_OB_tRNA |
PANTHERi | PTHR22594:SF5, PTHR22594:SF5, 1 hit |
Pfami | View protein in Pfam PF02938, GAD, 1 hit PF00152, tRNA-synt_2, 1 hit PF01336, tRNA_anti-codon, 1 hit |
PRINTSi | PR01042, TRNASYNTHASP |
SUPFAMi | SSF50249, SSF50249, 1 hit SSF55261, SSF55261, 1 hit |
TIGRFAMsi | TIGR00459, aspS_bact, 1 hit |
PROSITEi | View protein in PROSITE PS50862, AA_TRNA_LIGASE_II, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All
Q6PI48-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MYFPSWLSQL YRGLSRPIRR TTQPIWGSLY RSLLQSSQRR IPEFSSFVVR
60 70 80 90 100
TNTCGELRSS HLGQEVTLCG WIQYRRQNTF LVLRDFDGLV QVIIPQDESA
110 120 130 140 150
ASVKKILCEA PVESVVQVSG TVISRPAGQE NPKMPTGEIE IKVKTAELLN
160 170 180 190 200
ACKKLPFEIK NFVKKTEALR LQYRYLDLRS FQMQYNLRLR SQMVMKMREY
210 220 230 240 250
LCNLHGFVDI ETPTLFKRTP GGAKEFLVPS REPGKFYSLP QSPQQFKQLL
260 270 280 290 300
MVGGLDRYFQ VARCYRDEGS RPDRQPEFTQ IDIEMSFVDQ TGIQSLIEGL
310 320 330 340 350
LQYSWPNDKD PVVVPFPTMT FAEVLATYGT DKPDTRFGMK IIDISDVFRN
360 370 380 390 400
TEIGFLQDAL SKPHGTVKAI CIPEGAKYLK RKDIESIRNF AADHFNQEIL
410 420 430 440 450
PVFLNANRNW NSPVANFIME SQRLELIRLM ETQEEDVVLL TAGEHNKACS
460 470 480 490 500
LLGKLRLECA DLLETRGVVL RDPTLFSFLW VVDFPLFLPK EENPRELESA
510 520 530 540 550
HHPFTAPHPS DIHLLYTEPK KARSQHYDLV LNGNEIGGGS IRIHNAELQR
560 570 580 590 600
YILATLLKED VKMLSHLLQA LDYGAPPHGG IALGLDRLIC LVTGSPSIRD
610 620 630 640
VIAFPKSFRG HDLMSNTPDS VPPEELKPYH IRVSKPTDSK AERAH
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A3B3IT01 | A0A3B3IT01_HUMAN | Aspartate--tRNA ligase, mitochondri... | DARS2 | 594 | Annotation score: | ||
A0A3B3ITS3 | A0A3B3ITS3_HUMAN | Aspartate--tRNA ligase, mitochondri... | DARS2 | 482 | Annotation score: | ||
A0A3B3IS01 | A0A3B3IS01_HUMAN | Aspartate--tRNA ligase, mitochondri... | DARS2 | 539 | Annotation score: | ||
A0A3B3IS54 | A0A3B3IS54_HUMAN | Aspartate--tRNA ligase, mitochondri... | DARS2 | 484 | Annotation score: | ||
A0A3B3ISK7 | A0A3B3ISK7_HUMAN | Aspartate--tRNA ligase, mitochondri... | DARS2 | 624 | Annotation score: | ||
A0A3B3ITK9 | A0A3B3ITK9_HUMAN | Aspartate--tRNA ligase, mitochondri... | DARS2 | 295 | Annotation score: | ||
A0A3B3IT89 | A0A3B3IT89_HUMAN | Aspartate--tRNA ligase, mitochondri... | DARS2 | 80 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_027612 | 10 | L → V. Corresponds to variant dbSNP:rs4427454Ensembl. | 1 | |
Natural variantiVAR_037015 | 45 | S → G in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918209EnsemblClinVar. | 1 | |
Natural variantiVAR_037016 | 152 | C → F in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918208EnsemblClinVar. | 1 | |
Natural variantiVAR_037017 | 179 | R → H in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918210EnsemblClinVar. | 1 | |
Natural variantiVAR_037018 | 184 | Q → K in LBSL. 1 PublicationCorresponds to variant dbSNP:rs1469160736Ensembl. | 1 | |
Natural variantiVAR_034525 | 196 | K → R. Corresponds to variant dbSNP:rs35515638EnsemblClinVar. | 1 | |
Natural variantiVAR_037019 | 248 | Q → K in LBSL. 1 PublicationCorresponds to variant dbSNP:rs772489337Ensembl. | 1 | |
Natural variantiVAR_037020 | 263 | R → Q in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918207EnsemblClinVar. | 1 | |
Natural variantiVAR_037021 | 560 | D → V in LBSL. 1 PublicationCorresponds to variant dbSNP:rs770525873Ensembl. | 1 | |
Natural variantiVAR_037022 | 613 | L → F in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918212EnsemblClinVar. | 1 | |
Natural variantiVAR_037023 | 626 | L → Q in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918213EnsemblClinVar. | 1 | |
Natural variantiVAR_037024 | 626 | L → V in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918205EnsemblClinVar. | 1 | |
Natural variantiVAR_037025 | 629 | Y → C in LBSL. 1 PublicationCorresponds to variant dbSNP:rs761675657Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL109921 Genomic DNA No translation available. BC045173 mRNA Translation: AAH45173.1 |
CCDSi | CCDS1311.1 |
RefSeqi | NP_060592.2, NM_018122.4 |
Genome annotation databases
Ensembli | ENST00000649689; ENSP00000497569; ENSG00000117593 |
GeneIDi | 55157 |
KEGGi | hsa:55157 |
UCSCi | uc001gjh.3, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL109921 Genomic DNA No translation available. BC045173 mRNA Translation: AAH45173.1 |
CCDSi | CCDS1311.1 |
RefSeqi | NP_060592.2, NM_018122.4 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4AH6 | X-ray | 3.70 | A/B/C/D | 41-645 | [»] | |
SMRi | Q6PI48 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 120459, 56 interactors |
IntActi | Q6PI48, 34 interactors |
MINTi | Q6PI48 |
STRINGi | 9606.ENSP00000355086 |
Chemistry databases
DrugBanki | DB00128, Aspartic acid |
PTM databases
iPTMneti | Q6PI48 |
PhosphoSitePlusi | Q6PI48 |
SwissPalmi | Q6PI48 |
Polymorphism and mutation databases
BioMutai | DARS2 |
DMDMi | 74758347 |
Proteomic databases
EPDi | Q6PI48 |
jPOSTi | Q6PI48 |
MassIVEi | Q6PI48 |
MaxQBi | Q6PI48 |
PaxDbi | Q6PI48 |
PeptideAtlasi | Q6PI48 |
PRIDEi | Q6PI48 |
ProteomicsDBi | 67139 |
Protocols and materials databases
Antibodypediai | 20564, 170 antibodies |
Genome annotation databases
Ensembli | ENST00000649689; ENSP00000497569; ENSG00000117593 |
GeneIDi | 55157 |
KEGGi | hsa:55157 |
UCSCi | uc001gjh.3, human |
Organism-specific databases
CTDi | 55157 |
DisGeNETi | 55157 |
EuPathDBi | HostDB:ENSG00000117593.9 |
GeneCardsi | DARS2 |
GeneReviewsi | DARS2 |
HGNCi | HGNC:25538, DARS2 |
HPAi | ENSG00000117593, Low tissue specificity |
MalaCardsi | DARS2 |
MIMi | 610956, gene 611105, phenotype |
neXtProti | NX_Q6PI48 |
OpenTargetsi | ENSG00000117593 |
Orphaneti | 137898, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
PharmGKBi | PA142672015 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2411, Eukaryota |
GeneTreei | ENSGT01010000222368 |
HOGENOMi | CLU_014330_3_1_1 |
InParanoidi | Q6PI48 |
OMAi | YQLDVEM |
OrthoDBi | 697974at2759 |
PhylomeDBi | Q6PI48 |
TreeFami | TF314827 |
Enzyme and pathway databases
BRENDAi | 6.1.1.12, 2681 |
PathwayCommonsi | Q6PI48 |
Reactomei | R-HSA-379726, Mitochondrial tRNA aminoacylation |
Miscellaneous databases
BioGRID-ORCSi | 55157, 187 hits in 848 CRISPR screens |
ChiTaRSi | DARS2, human |
GenomeRNAii | 55157 |
Pharosi | Q6PI48, Tbio |
PROi | PR:Q6PI48 |
RNActi | Q6PI48, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000117593, Expressed in heart and 148 other tissues |
ExpressionAtlasi | Q6PI48, baseline and differential |
Genevisiblei | Q6PI48, HS |
Family and domain databases
Gene3Di | 3.30.1360.30, 1 hit |
HAMAPi | MF_00044, Asp_tRNA_synth_type1, 1 hit |
InterProi | View protein in InterPro IPR004364, Aa-tRNA-synt_II IPR006195, aa-tRNA-synth_II IPR004524, Asp-tRNA-ligase_1 IPR002312, Asp/Asn-tRNA-synth_IIb IPR004115, GAD-like_sf IPR029351, GAD_dom IPR012340, NA-bd_OB-fold IPR004365, NA-bd_OB_tRNA |
PANTHERi | PTHR22594:SF5, PTHR22594:SF5, 1 hit |
Pfami | View protein in Pfam PF02938, GAD, 1 hit PF00152, tRNA-synt_2, 1 hit PF01336, tRNA_anti-codon, 1 hit |
PRINTSi | PR01042, TRNASYNTHASP |
SUPFAMi | SSF50249, SSF50249, 1 hit SSF55261, SSF55261, 1 hit |
TIGRFAMsi | TIGR00459, aspS_bact, 1 hit |
PROSITEi | View protein in PROSITE PS50862, AA_TRNA_LIGASE_II, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SYDM_HUMAN | |
Accessioni | Q6PI48Primary (citable) accession number: Q6PI48 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 3, 2006 |
Last sequence update: | July 5, 2004 | |
Last modified: | December 2, 2020 | |
This is version 165 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Aminoacyl-tRNA synthetases
List of aminoacyl-tRNA synthetase entries