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Protein

Probable asparagine--tRNA ligase, mitochondrial

Gene

NARS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 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

ReactomeiREACT_15302. 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
ProteomesiUP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:26274. NARS2.

Subcellular locationi

GO - Cellular componenti

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti214 – 2141P → L in COXPD24. 1 Publication
VAR_073250

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi616239. phenotype.
PharmGKBiPA143485554.

Chemistry

DrugBankiDB00174. L-Asparagine.

Polymorphism and mutation databases

BioMutaiNARS2.
DMDMi296452944.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 1414MitochondrionSequence AnalysisAdd
BLAST
Chaini15 – 477463Probable asparagine--tRNA ligase, mitochondrialPRO_0000250722Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei353 – 3531N6-acetyllysine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ96I59.
PaxDbiQ96I59.
PRIDEiQ96I59.

PTM databases

PhosphoSiteiQ96I59.

Expressioni

Gene expression databases

BgeeiQ96I59.
CleanExiHS_NARS2.
ExpressionAtlasiQ96I59. baseline and differential.
GenevisibleiQ96I59. HS.

Organism-specific databases

HPAiHPA026793.

Interactioni

Protein-protein interaction databases

BioGridi122846. 7 interactions.
IntActiQ96I59. 1 interaction.
STRINGi9606.ENSP00000281038.

Structurei

3D structure databases

ProteinModelPortaliQ96I59.
SMRiQ96I59. Positions 41-472.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0017.
GeneTreeiENSGT00550000074970.
HOGENOMiHOG000226033.
HOVERGENiHBG067799.
InParanoidiQ96I59.
KOiK01893.
OMAiAIHRFFH.
OrthoDBiEOG7HF1J5.
PhylomeDBiQ96I59.
TreeFamiTF315088.

Family and domain databases

Gene3Di2.40.50.140. 1 hit.
HAMAPiMF_00534. Asn_tRNA_synth.
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.
PTHR22594:SF6. PTHR22594:SF6. 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti87 – 871N → T.1 Publication
Corresponds to variant rs10501429 [ dbSNP | Ensembl ].
VAR_052636
Natural varianti214 – 2141P → L in COXPD24. 1 Publication
VAR_073250

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 227227Missing in isoform 2. CuratedVSP_054120Add
BLAST

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]
UniGeneiHs.503389.

Genome annotation databases

EnsembliENST00000281038; ENSP00000281038; ENSG00000137513.
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]
UniGeneiHs.503389.

3D structure databases

ProteinModelPortaliQ96I59.
SMRiQ96I59. Positions 41-472.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122846. 7 interactions.
IntActiQ96I59. 1 interaction.
STRINGi9606.ENSP00000281038.

Chemistry

DrugBankiDB00174. L-Asparagine.

PTM databases

PhosphoSiteiQ96I59.

Polymorphism and mutation databases

BioMutaiNARS2.
DMDMi296452944.

Proteomic databases

MaxQBiQ96I59.
PaxDbiQ96I59.
PRIDEiQ96I59.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi79731.
GeneCardsiGC11M078147.
HGNCiHGNC:26274. NARS2.
HPAiHPA026793.
MIMi612803. gene.
616239. phenotype.
neXtProtiNX_Q96I59.
PharmGKBiPA143485554.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0017.
GeneTreeiENSGT00550000074970.
HOGENOMiHOG000226033.
HOVERGENiHBG067799.
InParanoidiQ96I59.
KOiK01893.
OMAiAIHRFFH.
OrthoDBiEOG7HF1J5.
PhylomeDBiQ96I59.
TreeFamiTF315088.

Enzyme and pathway databases

ReactomeiREACT_15302. Mitochondrial tRNA aminoacylation.

Miscellaneous databases

ChiTaRSiNARS2. human.
GenomeRNAii79731.
NextBioi69114.
PROiQ96I59.
SOURCEiSearch...

Gene expression databases

BgeeiQ96I59.
CleanExiHS_NARS2.
ExpressionAtlasiQ96I59. baseline and differential.
GenevisibleiQ96I59. HS.

Family and domain databases

Gene3Di2.40.50.140. 1 hit.
HAMAPiMF_00534. Asn_tRNA_synth.
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.
PTHR22594:SF6. PTHR22594:SF6. 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...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT THR-87.
    Tissue: Brain.
  4. "Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS."
    Bonnefond L., Fender A., Rudinger-Thirion J., Giege R., Florentz C., Sissler M.
    Biochemistry 44:4805-4816(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION.
  5. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-353, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  8. "Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)."
    Vanlander A.V., Menten B., Smet J., De Meirleir L., Sante T., De Paepe B., Seneca S., Pearce S.F., Powell C.A., Vergult S., Michotte A., De Latter E., Vantomme L., Minczuk M., Van Coster R.
    Hum. Mutat. 36:222-231(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN COXPD24.
  9. "Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome."
    Sofou K., Kollberg G., Holmstroem M., Davila M., Darin N., Gustafsson C.M., Holme E., Oldfors A., Tulinius M., Asin-Cayuela J.
    Mol. Genet. Genomic Med. 3:59-68(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN COXPD24, VARIANT COXPD24 LEU-214.

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: July 22, 2015
This is version 119 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

External Data

Dasty 3

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 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.