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Protein

Probable asparagine--tRNA ligase, mitochondrial

Gene

NARS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Molecular functioni

Aminoacyl-tRNA synthetase, Ligase

Keywords - Biological processi

Protein biosynthesis

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:HS06357-MONOMER.
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

HGNCiHGNC:26274. NARS2.

Subcellular locationi

GO - Cellular componenti

  • mitochondrial matrix Source: UniProtKB-SubCell
  • mitochondrion Source: UniProtKB
Complete GO annotation...

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 rs730882155dbSNPEnsembl.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

Organism-specific databases

DisGeNETi79731.
MIMi256000. phenotype.
616239. phenotype.
OpenTargetsiENSG00000137513.
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.

PTM databases

iPTMnetiQ96I59.
PhosphoSitePlusiQ96I59.

Expressioni

Gene expression databases

BgeeiENSG00000137513.
CleanExiHS_NARS2.
ExpressionAtlasiQ96I59. baseline and differential.
GenevisibleiQ96I59. HS.

Organism-specific databases

HPAiHPA026793.

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi122846. 23 interactors.
IntActiQ96I59. 2 interactors.
STRINGi9606.ENSP00000281038.

Structurei

3D structure databases

ProteinModelPortaliQ96I59.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

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

Family and domain databases

HAMAPiMF_00534. Asn_tRNA_synth. 1 hit.
InterProiIPR004364. aa-tRNA-synt_II.
IPR018150. aa-tRNA-synt_II-like.
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.
[Graphical view]
PANTHERiPTHR22594. PTHR22594. 1 hit.
PfamiPF00152. tRNA-synt_2. 1 hit.
PF01336. tRNA_anti-codon. 1 hit.
[Graphical view]
PRINTSiPR01042. TRNASYNTHASP.
SUPFAMiSSF50249. SSF50249. 1 hit.
TIGRFAMsiTIGR00457. asnS. 1 hit.
PROSITEiPS50862. AA_TRNA_LIGASE_II. 1 hit.
[Graphical view]

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

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05263687N → T.1 PublicationCorresponds to variant rs10501429dbSNPEnsembl.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 rs730882155dbSNPEnsembl.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

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122846. 23 interactors.
IntActiQ96I59. 2 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.

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.
GeneCardsiNARS2.
HGNCiHGNC:26274. NARS2.
HPAiHPA026793.
MIMi256000. phenotype.
612803. gene.
616239. phenotype.
neXtProtiNX_Q96I59.
OpenTargetsiENSG00000137513.
PharmGKBiPA143485554.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:HS06357-MONOMER.
ReactomeiR-HSA-379726. Mitochondrial tRNA aminoacylation.

Miscellaneous databases

ChiTaRSiNARS2. human.
GenomeRNAii79731.
PROiQ96I59.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000137513.
CleanExiHS_NARS2.
ExpressionAtlasiQ96I59. baseline and differential.
GenevisibleiQ96I59. HS.

Family and domain databases

HAMAPiMF_00534. Asn_tRNA_synth. 1 hit.
InterProiIPR004364. aa-tRNA-synt_II.
IPR018150. aa-tRNA-synt_II-like.
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.
[Graphical view]
PANTHERiPTHR22594. PTHR22594. 1 hit.
PfamiPF00152. tRNA-synt_2. 1 hit.
PF01336. tRNA_anti-codon. 1 hit.
[Graphical view]
PRINTSiPR01042. TRNASYNTHASP.
SUPFAMiSSF50249. SSF50249. 1 hit.
TIGRFAMsiTIGR00457. asnS. 1 hit.
PROSITEiPS50862. AA_TRNA_LIGASE_II. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSYNM_HUMAN
AccessioniPrimary (citable) accession number: Q96I59
Secondary accession number(s): G3V178
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: May 18, 2010
Last modified: November 2, 2016
This is version 131 of the entry and version 3 of the sequence. [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. Aminoacyl-tRNA synthetases
    List of aminoacyl-tRNA synthetase entries
  2. Human chromosome 11
    Human chromosome 11: 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. SIMILARITY comments
    Index of protein domains and families

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.