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UniProtKB - Q96I59 (SYNM_HUMAN)
Protein
Probable asparagine--tRNA ligase, mitochondrial
Gene
NARS2
Organism
Homo sapiens (Human)
Status
Functioni
Catalytic activityi
- EC:6.1.1.22
GO - Molecular functioni
- asparagine-tRNA ligase activity Source: UniProtKB
- ATP binding Source: UniProtKB-KW
- nucleic acid binding Source: InterPro
GO - Biological processi
- asparaginyl-tRNA aminoacylation Source: UniProtKB
Keywordsi
Molecular function | Aminoacyl-tRNA synthetase, Ligase |
Biological process | Protein biosynthesis |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 6.1.1.22, 2681 |
PathwayCommonsi | Q96I59 |
Reactomei | R-HSA-379726, Mitochondrial tRNA aminoacylation |
SignaLinki | Q96I59 |
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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:26274, NARS2 |
MIMi | 612803, gene |
neXtProti | NX_Q96I59 |
VEuPathDBi | HostDB:ENSG00000137513 |
Subcellular locationi
Mitochondrion
- Mitochondrion matrix By similarity
- Mitochondrion 1 Publication
Cytosol
- cytosol Source: HPA
Mitochondrion
- mitochondrial matrix Source: UniProtKB-SubCell
- mitochondrion Source: UniProtKB
Nucleus
- nucleoplasm Source: HPA
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
Combined oxidative phosphorylation deficiency 24 (COXPD24)3 Publications
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073250 | 214 | P → L in COXPD24. 1 PublicationCorresponds to variant dbSNP:rs730882155EnsemblClinVar. | 1 | |
Natural variantiVAR_082311 | 323 – 477 | Missing in COXPD24. 1 PublicationAdd BLAST | 155 | |
Natural variantiVAR_073724 | 381 | N → S in COXPD24; does not form homodimers; does not affect localization to mitochondrion. 1 PublicationCorresponds to variant dbSNP:rs1565216037EnsemblClinVar. | 1 |
Deafness, autosomal recessive, 94 (DFNB94)1 Publication
The disease may be caused by variants affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic, sensorineural deafness characterized by prelingual, profound, bilateral hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073723 | 213 | V → F in DFNB94; probable loss-of-function variant; unable to rescue mitochondrial respiratory chain defects in NARS2 null fibroblasts; does not affect homodimerization; does not affect localization to mitochondrion. 1 PublicationCorresponds to variant dbSNP:rs756725793EnsemblClinVar. | 1 |
Keywords - Diseasei
Deafness, Disease variant, Leigh syndrome, Non-syndromic deafness, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 79731 |
MalaCardsi | NARS2 |
MIMi | 616239, phenotype 618434, phenotype |
OpenTargetsi | ENSG00000137513 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB 444458, Combined oxidative phosphorylation defect type 24 |
PharmGKBi | PA143485554 |
Miscellaneous databases
Pharosi | Q96I59, Tbio |
Chemistry databases
DrugBanki | DB00174, Asparagine |
Genetic variation databases
BioMutai | NARS2 |
DMDMi | 296452944 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 14 | MitochondrionSequence analysisAdd BLAST | 14 | |
ChainiPRO_0000250722 | 15 – 477 | Probable asparagine--tRNA ligase, mitochondrialAdd BLAST | 463 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 353 | N6-acetyllysineCombined sources | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q96I59 |
jPOSTi | Q96I59 |
MassIVEi | Q96I59 |
MaxQBi | Q96I59 |
PaxDbi | Q96I59 |
PeptideAtlasi | Q96I59 |
PRIDEi | Q96I59 |
ProteomicsDBi | 32283 76813 [Q96I59-1] |
PTM databases
iPTMneti | Q96I59 |
PhosphoSitePlusi | Q96I59 |
Expressioni
Gene expression databases
Bgeei | ENSG00000137513, Expressed in secondary oocyte and 227 other tissues |
ExpressionAtlasi | Q96I59, baseline and differential |
Genevisiblei | Q96I59, HS |
Organism-specific databases
HPAi | ENSG00000137513, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer.
1 PublicationProtein-protein interaction databases
BioGRIDi | 122846, 74 interactors |
IntActi | Q96I59, 35 interactors |
STRINGi | 9606.ENSP00000281038 |
Miscellaneous databases
RNActi | Q96I59, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the class-II aminoacyl-tRNA synthetase family.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG0554, Eukaryota |
GeneTreei | ENSGT01030000234618 |
HOGENOMi | CLU_004553_2_0_1 |
InParanoidi | Q96I59 |
OMAi | DNMDLAE |
OrthoDBi | 1056670at2759 |
PhylomeDBi | Q96I59 |
TreeFami | TF315088 |
Family and domain databases
Gene3Di | 2.40.50.140, 1 hit 3.30.930.10, 1 hit |
HAMAPi | MF_00534, Asn_tRNA_synth, 1 hit |
InterProi | View protein in InterPro IPR004364, Aa-tRNA-synt_II IPR006195, aa-tRNA-synth_II IPR045864, aa-tRNA-synth_II/BPL/LPL IPR004522, Asn-tRNA-ligase IPR002312, Asp/Asn-tRNA-synth_IIb IPR012340, NA-bd_OB-fold IPR004365, NA-bd_OB_tRNA |
Pfami | View protein in Pfam PF00152, tRNA-synt_2, 1 hit PF01336, tRNA_anti-codon, 1 hit |
PRINTSi | PR01042, TRNASYNTHASP |
SUPFAMi | SSF50249, SSF50249, 1 hit SSF55681, SSF55681, 1 hit |
TIGRFAMsi | TIGR00457, asnS, 1 hit |
PROSITEi | View protein in PROSITE PS50862, AA_TRNA_LIGASE_II, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PRK2 | E9PRK2_HUMAN | Probable asparagine--tRNA ligase, m... | NARS2 | 241 | Annotation score: | ||
H0YE96 | H0YE96_HUMAN | Probable asparagine--tRNA ligase, m... | NARS2 | 81 | Annotation score: | ||
H0YEL9 | H0YEL9_HUMAN | Probable asparagine--tRNA ligase, m... | NARS2 | 106 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_052636 | 87 | N → T1 PublicationCorresponds to variant dbSNP:rs10501429EnsemblClinVar. | 1 | |
Natural variantiVAR_073723 | 213 | V → F in DFNB94; probable loss-of-function variant; unable to rescue mitochondrial respiratory chain defects in NARS2 null fibroblasts; does not affect homodimerization; does not affect localization to mitochondrion. 1 PublicationCorresponds to variant dbSNP:rs756725793EnsemblClinVar. | 1 | |
Natural variantiVAR_073250 | 214 | P → L in COXPD24. 1 PublicationCorresponds to variant dbSNP:rs730882155EnsemblClinVar. | 1 | |
Natural variantiVAR_082311 | 323 – 477 | Missing in COXPD24. 1 PublicationAdd BLAST | 155 | |
Natural variantiVAR_073724 | 381 | N → S in COXPD24; does not form homodimers; does not affect localization to mitochondrion. 1 PublicationCorresponds to variant dbSNP:rs1565216037EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_054120 | 1 – 227 | Missing in isoform 2. CuratedAdd BLAST | 227 |
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 |
CCDSi | CCDS58164.1 [Q96I59-2] CCDS8261.1 [Q96I59-1] |
RefSeqi | NP_001230180.1, NM_001243251.1 [Q96I59-2] NP_078954.4, NM_024678.5 [Q96I59-1] XP_016873792.1, XM_017018303.1 [Q96I59-2] |
Genome annotation databases
Ensembli | ENST00000281038.10; ENSP00000281038.5; ENSG00000137513.10 ENST00000528850.5; ENSP00000432635.1; ENSG00000137513.10 [Q96I59-2] |
GeneIDi | 79731 |
KEGGi | hsa:79731 |
MANE-Selecti | ENST00000281038.10; ENSP00000281038.5; NM_024678.6; NP_078954.4 |
UCSCi | uc001ozi.3, human [Q96I59-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS58164.1 [Q96I59-2] CCDS8261.1 [Q96I59-1] |
RefSeqi | NP_001230180.1, NM_001243251.1 [Q96I59-2] NP_078954.4, NM_024678.5 [Q96I59-1] XP_016873792.1, XM_017018303.1 [Q96I59-2] |
3D structure databases
AlphaFoldDBi | Q96I59 |
SMRi | Q96I59 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 122846, 74 interactors |
IntActi | Q96I59, 35 interactors |
STRINGi | 9606.ENSP00000281038 |
Chemistry databases
DrugBanki | DB00174, Asparagine |
PTM databases
iPTMneti | Q96I59 |
PhosphoSitePlusi | Q96I59 |
Genetic variation databases
BioMutai | NARS2 |
DMDMi | 296452944 |
Proteomic databases
EPDi | Q96I59 |
jPOSTi | Q96I59 |
MassIVEi | Q96I59 |
MaxQBi | Q96I59 |
PaxDbi | Q96I59 |
PeptideAtlasi | Q96I59 |
PRIDEi | Q96I59 |
ProteomicsDBi | 32283 76813 [Q96I59-1] |
Protocols and materials databases
Antibodypediai | 17519, 177 antibodies from 26 providers |
DNASUi | 79731 |
Genome annotation databases
Ensembli | ENST00000281038.10; ENSP00000281038.5; ENSG00000137513.10 ENST00000528850.5; ENSP00000432635.1; ENSG00000137513.10 [Q96I59-2] |
GeneIDi | 79731 |
KEGGi | hsa:79731 |
MANE-Selecti | ENST00000281038.10; ENSP00000281038.5; NM_024678.6; NP_078954.4 |
UCSCi | uc001ozi.3, human [Q96I59-1] |
Organism-specific databases
CTDi | 79731 |
DisGeNETi | 79731 |
GeneCardsi | NARS2 |
HGNCi | HGNC:26274, NARS2 |
HPAi | ENSG00000137513, Low tissue specificity |
MalaCardsi | NARS2 |
MIMi | 612803, gene 616239, phenotype 618434, phenotype |
neXtProti | NX_Q96I59 |
OpenTargetsi | ENSG00000137513 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB 444458, Combined oxidative phosphorylation defect type 24 |
PharmGKBi | PA143485554 |
VEuPathDBi | HostDB:ENSG00000137513 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0554, Eukaryota |
GeneTreei | ENSGT01030000234618 |
HOGENOMi | CLU_004553_2_0_1 |
InParanoidi | Q96I59 |
OMAi | DNMDLAE |
OrthoDBi | 1056670at2759 |
PhylomeDBi | Q96I59 |
TreeFami | TF315088 |
Enzyme and pathway databases
BRENDAi | 6.1.1.22, 2681 |
PathwayCommonsi | Q96I59 |
Reactomei | R-HSA-379726, Mitochondrial tRNA aminoacylation |
SignaLinki | Q96I59 |
Miscellaneous databases
BioGRID-ORCSi | 79731, 239 hits in 1098 CRISPR screens |
ChiTaRSi | NARS2, human |
GenomeRNAii | 79731 |
Pharosi | Q96I59, Tbio |
PROi | PR:Q96I59 |
RNActi | Q96I59, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000137513, Expressed in secondary oocyte and 227 other tissues |
ExpressionAtlasi | Q96I59, baseline and differential |
Genevisiblei | Q96I59, HS |
Family and domain databases
Gene3Di | 2.40.50.140, 1 hit 3.30.930.10, 1 hit |
HAMAPi | MF_00534, Asn_tRNA_synth, 1 hit |
InterProi | View protein in InterPro IPR004364, Aa-tRNA-synt_II IPR006195, aa-tRNA-synth_II IPR045864, aa-tRNA-synth_II/BPL/LPL IPR004522, Asn-tRNA-ligase IPR002312, Asp/Asn-tRNA-synth_IIb IPR012340, NA-bd_OB-fold IPR004365, NA-bd_OB_tRNA |
Pfami | View protein in Pfam PF00152, tRNA-synt_2, 1 hit PF01336, tRNA_anti-codon, 1 hit |
PRINTSi | PR01042, TRNASYNTHASP |
SUPFAMi | SSF50249, SSF50249, 1 hit SSF55681, SSF55681, 1 hit |
TIGRFAMsi | TIGR00457, asnS, 1 hit |
PROSITEi | View protein in PROSITE PS50862, AA_TRNA_LIGASE_II, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | SYNM_HUMAN | |
Accessioni | Q96I59Primary (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: | May 25, 2022 | |
This is version 170 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Aminoacyl-tRNA synthetases
List of aminoacyl-tRNA synthetase entries - Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families