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UniProtKB - Q6PI48 (SYDM_HUMAN)

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Protein

Aspartate--tRNA ligase, mitochondrial

Gene

DARS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
Complete GO annotation...

GO - Biological processi

  • mitochondrial asparaginyl-tRNA aminoacylation Source: UniProtKB
  • tRNA aminoacylation Source: BHF-UCL
  • tRNA aminoacylation for protein translation Source: Reactome
Complete GO annotation...

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:25538. DARS2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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:rs121918209Ensembl.1
Natural variantiVAR_037016152C → F in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918208Ensembl.1
Natural variantiVAR_037017179R → H in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918210Ensembl.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:rs121918207Ensembl.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:rs121918212Ensembl.1
Natural variantiVAR_037023626L → Q in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918213Ensembl.1
Natural variantiVAR_037024626L → V in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918205Ensembl.1
Natural variantiVAR_037025629Y → C in LBSL. 1 PublicationCorresponds to variant dbSNP:rs761675657Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi55157.
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
Complete GO annotation...

Protein-protein interaction databases

BioGridi120459. 24 interactors.
IntActiQ6PI48. 11 interactors.
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

Belongs to the class-II aminoacyl-tRNA synthetase family. Type 1 subfamily.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

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

Family and domain databases

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.
IPR029351. GAD_dom.
IPR012340. NA-bd_OB-fold.
IPR004365. NA-bd_OB_tRNA.
PANTHERiPTHR22594. PTHR22594. 1 hit.
PTHR22594:SF40. PTHR22594:SF40. 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:rs121918209Ensembl.1
Natural variantiVAR_037016152C → F in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918208Ensembl.1
Natural variantiVAR_037017179R → H in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918210Ensembl.1
Natural variantiVAR_037018184Q → K in LBSL. 1 Publication1
Natural variantiVAR_034525196K → R. Corresponds to variant dbSNP:rs35515638Ensembl.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:rs121918207Ensembl.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:rs121918212Ensembl.1
Natural variantiVAR_037023626L → Q in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918213Ensembl.1
Natural variantiVAR_037024626L → V in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918205Ensembl.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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

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: June 7, 2017
This is version 138 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