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Protein

Probable asparagine--tRNA ligase, mitochondrial

Gene

NARS2

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

Functioni

Catalytic activityi

ATP + L-asparagine + tRNA(Asn) = AMP + diphosphate + L-asparaginyl-tRNA(Asn).

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-HSA-379726 Mitochondrial tRNA aminoacylation

Names & Taxonomyi

Protein namesi
Recommended name:
Probable asparagine--tRNA ligase, mitochondrial (EC:6.1.1.22)
Alternative name(s):
Asparaginyl-tRNA synthetase
Short name:
AsnRS
Gene namesi
Name:NARS2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000137513.9
HGNCiHGNC:26274 NARS2
MIMi612803 gene
neXtProtiNX_Q96I59

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

Combined oxidative phosphorylation deficiency 24 (COXPD24)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe disorder, reminiscent of Alpers syndrome. Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter.
See also OMIM:616239
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073250214P → L in COXPD24. 1 PublicationCorresponds to variant dbSNP:rs730882155EnsemblClinVar.1
Leigh syndrome (LS)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionAn early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.
See also OMIM:256000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073724381N → S in LS; does not form homodimers; does not affect localization to mitochondrion. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Leigh syndrome, Non-syndromic deafness, Primary mitochondrial disease

Organism-specific databases

DisGeNETi79731
MalaCardsiNARS2
MIMi256000 phenotype
616239 phenotype
OpenTargetsiENSG00000137513
Orphaneti444458 Combined oxidative phosphorylation defect type 24
PharmGKBiPA143485554

Chemistry databases

DrugBankiDB00174 L-Asparagine

Polymorphism and mutation databases

BioMutaiNARS2
DMDMi296452944

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 14MitochondrionSequence analysisAdd BLAST14
ChainiPRO_000025072215 – 477Probable asparagine--tRNA ligase, mitochondrialAdd BLAST463

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei353N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ96I59
MaxQBiQ96I59
PaxDbiQ96I59
PeptideAtlasiQ96I59
PRIDEiQ96I59
ProteomicsDBi76813

PTM databases

iPTMnetiQ96I59
PhosphoSitePlusiQ96I59

Expressioni

Gene expression databases

BgeeiENSG00000137513 Expressed in 213 organ(s), highest expression level in secondary oocyte
CleanExiHS_NARS2
ExpressionAtlasiQ96I59 baseline and differential
GenevisibleiQ96I59 HS

Organism-specific databases

HPAiHPA026793

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi122846, 27 interactors
IntActiQ96I59, 13 interactors
STRINGi9606.ENSP00000281038

Structurei

3D structure databases

ProteinModelPortaliQ96I59
SMRiQ96I59
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG0554 Eukaryota
COG0017 LUCA
GeneTreeiENSGT00550000074970
HOGENOMiHOG000226033
HOVERGENiHBG067799
InParanoidiQ96I59
KOiK01893
OMAiVAWICGL
OrthoDBiEOG091G07DH
PhylomeDBiQ96I59
TreeFamiTF315088

Family and domain databases

HAMAPiMF_00534 Asn_tRNA_synth, 1 hit
InterProiView protein in InterPro
IPR004364 aa-tRNA-synt_II
IPR006195 aa-tRNA-synth_II
IPR004522 Asn-tRNA-ligase
IPR002312 Asp/Asn-tRNA-synth_IIb
IPR012340 NA-bd_OB-fold
IPR004365 NA-bd_OB_tRNA
PfamiView protein in Pfam
PF00152 tRNA-synt_2, 1 hit
PF01336 tRNA_anti-codon, 1 hit
PRINTSiPR01042 TRNASYNTHASP
SUPFAMiSSF50249 SSF50249, 1 hit
TIGRFAMsiTIGR00457 asnS, 1 hit
PROSITEiView protein in PROSITE
PS50862 AA_TRNA_LIGASE_II, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96I59-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLGVRCLLRS VRFCSSAPFP KHKPSAKLSV RDALGAQNAS GERIKIQGWI
60 70 80 90 100
RSVRSQKEVL FLHVNDGSSL ESLQVVADSG LDSRELNFGS SVEVQGQLIK
110 120 130 140 150
SPSKRQNVEL KAEKIKVIGN CDAKDFPIKY KERHPLEYLR QYPHFRCRTN
160 170 180 190 200
VLGSILRIRS EATAAIHSFF KDSGFVHIHT PIITSNDSEG AGELFQLEPS
210 220 230 240 250
GKLKVPEENF FNVPAFLTVS GQLHLEVMSG AFTQVFTFGP TFRAENSQSR
260 270 280 290 300
RHLAEFYMIE AEISFVDSLQ DLMQVIEELF KATTMMVLSK CPEDVELCHK
310 320 330 340 350
FIAPGQKDRL EHMLKNNFLI ISYTEAVEIL KQASQNFTFT PEWGADLRTE
360 370 380 390 400
HEKYLVKHCG NIPVFVINYP LTLKPFYMRD NEDGPQHTVA AVDLLVPGVG
410 420 430 440 450
ELFGGGLREE RYHFLEERLA RSGLTEVYQW YLDLRRFGSV PHGGFGMGFE
460 470
RYLQCILGVD NIKDVIPFPR FPHSCLL
Length:477
Mass (Da):54,090
Last modified:May 18, 2010 - v3
Checksum:i1F4C78E0B6F5500C
GO
Isoform 2 (identifier: Q96I59-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-227: Missing.

Note: No experimental confirmation available.
Show »
Length:250
Mass (Da):28,783
Checksum:iDF015513014C4FA9
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PRK2E9PRK2_HUMAN
Probable asparagine--tRNA ligase, m...
NARS2
241Annotation score:
H0YEL9H0YEL9_HUMAN
Probable asparagine--tRNA ligase, m...
NARS2
106Annotation score:
H0YE96H0YE96_HUMAN
Probable asparagine--tRNA ligase, m...
NARS2
81Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05263687N → T1 PublicationCorresponds to variant dbSNP:rs10501429EnsemblClinVar.1
Natural variantiVAR_073723213V → F Found in non-syndromic deafness patients; unknown pathological significance; does not affect homodimerization; does not affect localization to mitochondrion. 1 Publication1
Natural variantiVAR_073250214P → L in COXPD24. 1 PublicationCorresponds to variant dbSNP:rs730882155EnsemblClinVar.1
Natural variantiVAR_073724381N → S in LS; does not form homodimers; does not affect localization to mitochondrion. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0541201 – 227Missing in isoform 2. CuratedAdd BLAST227

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AP003086 Genomic DNA No translation available.
AP003110 Genomic DNA No translation available.
CH471076 Genomic DNA Translation: EAW75061.1
BC007800 mRNA Translation: AAH07800.2
CCDSiCCDS58164.1 [Q96I59-2]
CCDS8261.1 [Q96I59-1]
RefSeqiNP_001230180.1, NM_001243251.1 [Q96I59-2]
NP_078954.4, NM_024678.5 [Q96I59-1]
XP_016873792.1, XM_017018303.1 [Q96I59-2]
UniGeneiHs.503389

Genome annotation databases

EnsembliENST00000281038; ENSP00000281038; ENSG00000137513 [Q96I59-1]
ENST00000528850; ENSP00000432635; ENSG00000137513 [Q96I59-2]
GeneIDi79731
KEGGihsa:79731
UCSCiuc001ozi.3 human [Q96I59-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AP003086 Genomic DNA No translation available.
AP003110 Genomic DNA No translation available.
CH471076 Genomic DNA Translation: EAW75061.1
BC007800 mRNA Translation: AAH07800.2
CCDSiCCDS58164.1 [Q96I59-2]
CCDS8261.1 [Q96I59-1]
RefSeqiNP_001230180.1, NM_001243251.1 [Q96I59-2]
NP_078954.4, NM_024678.5 [Q96I59-1]
XP_016873792.1, XM_017018303.1 [Q96I59-2]
UniGeneiHs.503389

3D structure databases

ProteinModelPortaliQ96I59
SMRiQ96I59
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122846, 27 interactors
IntActiQ96I59, 13 interactors
STRINGi9606.ENSP00000281038

Chemistry databases

DrugBankiDB00174 L-Asparagine

PTM databases

iPTMnetiQ96I59
PhosphoSitePlusiQ96I59

Polymorphism and mutation databases

BioMutaiNARS2
DMDMi296452944

Proteomic databases

EPDiQ96I59
MaxQBiQ96I59
PaxDbiQ96I59
PeptideAtlasiQ96I59
PRIDEiQ96I59
ProteomicsDBi76813

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000281038; ENSP00000281038; ENSG00000137513 [Q96I59-1]
ENST00000528850; ENSP00000432635; ENSG00000137513 [Q96I59-2]
GeneIDi79731
KEGGihsa:79731
UCSCiuc001ozi.3 human [Q96I59-1]

Organism-specific databases

CTDi79731
DisGeNETi79731
EuPathDBiHostDB:ENSG00000137513.9
GeneCardsiNARS2
HGNCiHGNC:26274 NARS2
HPAiHPA026793
MalaCardsiNARS2
MIMi256000 phenotype
612803 gene
616239 phenotype
neXtProtiNX_Q96I59
OpenTargetsiENSG00000137513
Orphaneti444458 Combined oxidative phosphorylation defect type 24
PharmGKBiPA143485554
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0554 Eukaryota
COG0017 LUCA
GeneTreeiENSGT00550000074970
HOGENOMiHOG000226033
HOVERGENiHBG067799
InParanoidiQ96I59
KOiK01893
OMAiVAWICGL
OrthoDBiEOG091G07DH
PhylomeDBiQ96I59
TreeFamiTF315088

Enzyme and pathway databases

ReactomeiR-HSA-379726 Mitochondrial tRNA aminoacylation

Miscellaneous databases

ChiTaRSiNARS2 human
GenomeRNAii79731
PROiPR:Q96I59
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000137513 Expressed in 213 organ(s), highest expression level in secondary oocyte
CleanExiHS_NARS2
ExpressionAtlasiQ96I59 baseline and differential
GenevisibleiQ96I59 HS

Family and domain databases

HAMAPiMF_00534 Asn_tRNA_synth, 1 hit
InterProiView protein in InterPro
IPR004364 aa-tRNA-synt_II
IPR006195 aa-tRNA-synth_II
IPR004522 Asn-tRNA-ligase
IPR002312 Asp/Asn-tRNA-synth_IIb
IPR012340 NA-bd_OB-fold
IPR004365 NA-bd_OB_tRNA
PfamiView protein in Pfam
PF00152 tRNA-synt_2, 1 hit
PF01336 tRNA_anti-codon, 1 hit
PRINTSiPR01042 TRNASYNTHASP
SUPFAMiSSF50249 SSF50249, 1 hit
TIGRFAMsiTIGR00457 asnS, 1 hit
PROSITEiView protein in PROSITE
PS50862 AA_TRNA_LIGASE_II, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSYNM_HUMAN
AccessioniPrimary (citable) accession number: Q96I59
Secondary accession number(s): G3V178
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 148 of the entry and version 3 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  6. Aminoacyl-tRNA synthetases
    List of aminoacyl-tRNA synthetase entries
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