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Protein

Aspartate--tRNA ligase, mitochondrial

Gene

DARS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalytic activityi

ATP + L-aspartate + tRNA(Asp) = AMP + diphosphate + L-aspartyl-tRNA(Asp).2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei266AspartateBy similarity1
Binding sitei535ATPBy similarity1
Binding sitei542AspartateBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi266 – 268ATPBy similarity3
Nucleotide bindingi584 – 587ATPBy similarity4

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 functionAminoacyl-tRNA synthetase, Ligase
Biological processProtein biosynthesis
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi6.1.1.12 2681
ReactomeiR-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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi

Organism-specific databases

EuPathDBiHostDB:ENSG00000117593.9
HGNCiHGNC:25538 DARS2
MIMi610956 gene
neXtProtiNX_Q6PI48

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & 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.
See also OMIM:611105
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03701545S → G in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918209EnsemblClinVar.1
Natural variantiVAR_037016152C → F in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918208EnsemblClinVar.1
Natural variantiVAR_037017179R → H in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918210EnsemblClinVar.1
Natural variantiVAR_037018184Q → K in LBSL. 1 Publication1
Natural variantiVAR_037019248Q → K in LBSL. 1 PublicationCorresponds to variant dbSNP:rs772489337Ensembl.1
Natural variantiVAR_037020263R → Q in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918207EnsemblClinVar.1
Natural variantiVAR_037021560D → V in LBSL. 1 PublicationCorresponds to variant dbSNP:rs770525873Ensembl.1
Natural variantiVAR_037022613L → F in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918212EnsemblClinVar.1
Natural variantiVAR_037023626L → Q in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918213EnsemblClinVar.1
Natural variantiVAR_037024626L → V in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918205EnsemblClinVar.1
Natural variantiVAR_037025629Y → C in LBSL. 1 PublicationCorresponds to variant dbSNP:rs761675657Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi55157
GeneReviewsiDARS2
MalaCardsiDARS2
MIMi611105 phenotype
OpenTargetsiENSG00000117593
Orphaneti137898 Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
PharmGKBiPA142672015

Chemistry databases

DrugBankiDB00128 L-Aspartic Acid

Polymorphism and mutation databases

BioMutaiDARS2
DMDMi74758347

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 47MitochondrionSequence analysisAdd BLAST47
ChainiPRO_000025073648 – 645Aspartate--tRNA ligase, mitochondrialAdd BLAST598

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei219PhosphothreonineBy similarity1
Modified residuei242PhosphoserineCombined sources1
Modified residuei382N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ6PI48
MaxQBiQ6PI48
PaxDbiQ6PI48
PeptideAtlasiQ6PI48
PRIDEiQ6PI48

PTM databases

iPTMnetiQ6PI48
PhosphoSitePlusiQ6PI48
SwissPalmiQ6PI48

Expressioni

Gene expression databases

BgeeiENSG00000117593
CleanExiHS_DARS2
ExpressionAtlasiQ6PI48 baseline and differential
GenevisibleiQ6PI48 HS

Organism-specific databases

HPAiHPA026506
HPA026528

Interactioni

Subunit structurei

Homodimer.2 Publications

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi120459, 26 interactors
IntActiQ6PI48, 16 interactors
MINTiQ6PI48
STRINGi9606.ENSP00000355086

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4AH6X-ray3.70A/B/C/D41-645[»]
ProteinModelPortaliQ6PI48
SMRiQ6PI48
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni244 – 247AspartateBy similarity4

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2411 Eukaryota
COG0173 LUCA
GeneTreeiENSGT00550000074971
HOGENOMiHOG000275159
HOVERGENiHBG055815
InParanoidiQ6PI48
KOiK01876
OMAiYQLDVEM
OrthoDBiEOG091G04HW
PhylomeDBiQ6PI48
TreeFamiTF314827

Family and domain databases

Gene3Di3.30.1360.30, 1 hit
HAMAPiMF_00044 Asp_tRNA_synth_type1, 1 hit
InterProiView 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
PANTHERiPTHR22594:SF5 PTHR22594:SF5, 1 hit
PfamiView protein in Pfam
PF02938 GAD, 1 hit
PF00152 tRNA-synt_2, 1 hit
PF01336 tRNA_anti-codon, 1 hit
PRINTSiPR01042 TRNASYNTHASP
SUPFAMiSSF50249 SSF50249, 1 hit
SSF55261 SSF55261, 1 hit
TIGRFAMsiTIGR00459 aspS_bact, 1 hit
PROSITEiView protein in PROSITE
PS50862 AA_TRNA_LIGASE_II, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q6PI48-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:645
Mass (Da):73,563
Last modified:July 5, 2004 - v1
Checksum:i8B668751542F01A1
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02761210L → V. Corresponds to variant dbSNP:rs4427454Ensembl.1
Natural variantiVAR_03701545S → G in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918209EnsemblClinVar.1
Natural variantiVAR_037016152C → F in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918208EnsemblClinVar.1
Natural variantiVAR_037017179R → H in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918210EnsemblClinVar.1
Natural variantiVAR_037018184Q → K in LBSL. 1 Publication1
Natural variantiVAR_034525196K → R. Corresponds to variant dbSNP:rs35515638EnsemblClinVar.1
Natural variantiVAR_037019248Q → K in LBSL. 1 PublicationCorresponds to variant dbSNP:rs772489337Ensembl.1
Natural variantiVAR_037020263R → Q in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918207EnsemblClinVar.1
Natural variantiVAR_037021560D → V in LBSL. 1 PublicationCorresponds to variant dbSNP:rs770525873Ensembl.1
Natural variantiVAR_037022613L → F in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918212EnsemblClinVar.1
Natural variantiVAR_037023626L → Q in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918213EnsemblClinVar.1
Natural variantiVAR_037024626L → V in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918205EnsemblClinVar.1
Natural variantiVAR_037025629Y → 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
CCDSiCCDS1311.1
RefSeqiNP_060592.2, NM_018122.4
UniGeneiHs.647707

Genome annotation databases

EnsembliENST00000361951; ENSP00000355086; ENSG00000117593
GeneIDi55157
KEGGihsa:55157
UCSCiuc001gjh.3 human

Keywords - Coding sequence diversityi

Polymorphism

Entry informationi

Entry nameiSYDM_HUMAN
AccessioniPrimary (citable) accession number: Q6PI48
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: July 5, 2004
Last modified: May 23, 2018
This is version 146 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Aminoacyl-tRNA synthetases
    List of aminoacyl-tRNA synthetase entries
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

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