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Protein

Isoleucine--tRNA ligase, mitochondrial

Gene

IARS2

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

Functioni

Catalytic activityi

ATP + L-isoleucine + tRNA(Ile) = AMP + diphosphate + L-isoleucyl-tRNA(Ile).

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei667ATPBy similarity1

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:
Isoleucine--tRNA ligase, mitochondrial (EC:6.1.1.5)
Alternative name(s):
Isoleucyl-tRNA synthetase
Short name:
IleRS
Gene namesi
Name:IARS2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000067704.9
HGNCiHGNC:29685 IARS2
MIMi612801 gene
neXtProtiNX_Q9NSE4

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

Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by cataracts, short-stature secondary to growth hormone deficiency, sensorineural hearing deficit, peripheral sensory neuropathy, skeletal dysplasia, scoliosis, and facial dysmorphism.
See also OMIM:616007
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072591909P → L in CAGSSS. 1 PublicationCorresponds to variant dbSNP:rs587783070EnsemblClinVar.1

Keywords - Diseasei

Cataract, Deafness, Disease mutation, Neuropathy

Organism-specific databases

DisGeNETi55699
MalaCardsiIARS2
MIMi616007 phenotype
OpenTargetsiENSG00000067704
PharmGKBiPA142671670

Chemistry databases

DrugBankiDB00167 L-Isoleucine

Polymorphism and mutation databases

BioMutaiIARS2
DMDMi94730583

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 48MitochondrionSequence analysisAdd BLAST48
ChainiPRO_000023333549 – 1012Isoleucine--tRNA ligase, mitochondrialAdd BLAST964

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei74N6-acetyllysine; alternateBy similarity1
Modified residuei74N6-succinyllysine; alternateBy similarity1
Modified residuei189N6-acetyllysineCombined sources1
Modified residuei194N6-succinyllysineBy similarity1
Modified residuei233N6-acetyllysineCombined sources1
Modified residuei241N6-acetyllysine; alternateCombined sources1
Modified residuei241N6-succinyllysine; alternateBy similarity1
Modified residuei479N6-succinyllysineBy similarity1
Modified residuei500N6-succinyllysineBy similarity1
Modified residuei725N6-acetyllysineBy similarity1
Modified residuei775N6-acetyllysine; alternateCombined sources1
Modified residuei775N6-succinyllysine; alternateBy similarity1
Modified residuei781N6-acetyllysine; alternateCombined sources1
Modified residuei781N6-succinyllysine; alternateBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9NSE4
MaxQBiQ9NSE4
PaxDbiQ9NSE4
PeptideAtlasiQ9NSE4
PRIDEiQ9NSE4
ProteomicsDBi82542

PTM databases

iPTMnetiQ9NSE4
PhosphoSitePlusiQ9NSE4
SwissPalmiQ9NSE4

Expressioni

Gene expression databases

BgeeiENSG00000067704 Expressed in 234 organ(s), highest expression level in parietal pleura
CleanExiHS_IARS2
GenevisibleiQ9NSE4 HS

Organism-specific databases

HPAiHPA024212
HPA024594
HPA024596

Interactioni

Protein-protein interaction databases

BioGridi120824, 67 interactors
IntActiQ9NSE4, 33 interactors
MINTiQ9NSE4
STRINGi9606.ENSP00000303279

Structurei

3D structure databases

ProteinModelPortaliQ9NSE4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi116 – 126"HIGH" regionBy similarityAdd BLAST11
Motifi664 – 668"KMSKS" regionBy similarity5

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG0433 Eukaryota
COG0060 LUCA
GeneTreeiENSGT00550000074910
HOVERGENiHBG059862
InParanoidiQ9NSE4
KOiK01870
OMAiHLGTAWN
OrthoDBiEOG091G01LD
PhylomeDBiQ9NSE4
TreeFamiTF300518

Family and domain databases

CDDicd07960 Anticodon_Ia_Ile_BEm, 1 hit
Gene3Di3.40.50.620, 2 hits
3.90.740.10, 1 hit
HAMAPiMF_02002 Ile_tRNA_synth_type1, 1 hit
InterProiView protein in InterPro
IPR001412 aa-tRNA-synth_I_CS
IPR002300 aa-tRNA-synth_Ia
IPR033708 Anticodon_Ile_BEm
IPR002301 Ile-tRNA-ligase
IPR023585 Ile-tRNA-ligase_type1
IPR013155 M/V/L/I-tRNA-synth_anticd-bd
IPR014729 Rossmann-like_a/b/a_fold
IPR009080 tRNAsynth_Ia_anticodon-bd
IPR009008 Val/Leu/Ile-tRNA-synth_edit
IPR010663 Znf_FPG/IleRS
PfamiView protein in Pfam
PF08264 Anticodon_1, 1 hit
PF00133 tRNA-synt_1, 1 hit
PF06827 zf-FPG_IleRS, 1 hit
PRINTSiPR00984 TRNASYNTHILE
SUPFAMiSSF47323 SSF47323, 1 hit
SSF50677 SSF50677, 1 hit
TIGRFAMsiTIGR00392 ileS, 1 hit
PROSITEiView protein in PROSITE
PS00178 AA_TRNA_LIGASE_I, 1 hit

Sequencei

Sequence statusi: Complete.

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

Q9NSE4-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRWGLRPRGP GAAALATARS LWGTPRLPCS PGWQGATKRL LVRSVSGASN
60 70 80 90 100
HQPNSNSGRY RDTVLLPQTS FPMKLLGRQQ PDTELEIQQK CGFSELYSWQ
110 120 130 140 150
RERKVKTEFC LHDGPPYANG DPHVGHALNK ILKDIANRFH MMNGSKIHFV
160 170 180 190 200
PGWDCHGLPI EIKVLSELGR EAQNLSAMEI RKKARSFAKA AIEKQKSAFI
210 220 230 240 250
RWGIMADWNN CYYTFDGKYE AKQLRTFYQM YDKGLVYRSY KPVFWSPSSR
260 270 280 290 300
TALAEAELEY NPEHVSRSIY VKFPLLKPSP KLASLIDGSS PVSILVWTTQ
310 320 330 340 350
PWTIPANEAV CYMPESKYAV VKCSKSGDLY VLAADKVASV ASTLETTFET
360 370 380 390 400
ISTLSGVDLE NGTCSHPLIP DKASPLLPAN HVTMAKGTGL VHTAPAHGME
410 420 430 440 450
DYGVASQHNL PMDCLVDEDG VFTDVAGPEL QNKAVLEEGT DVVIKMLQTA
460 470 480 490 500
KNLLKEEKLV HSYPYDWRTK KPVVIRASKQ WFINITDIKT AAKELLKKVK
510 520 530 540 550
FIPGSALNGM VEMMDRRPYW CISRQRVWGV PIPVFHHKTK DEYLINSQTT
560 570 580 590 600
EHIVKLVEQH GSDIWWTLPP EQLLPKEVLS EVGGPDALEY VPGQDILDIW
610 620 630 640 650
FDSGTSWSYV LPGPDQRADL YLEGKDQLGG WFQSSLLTSV AARKRAPYKT
660 670 680 690 700
VIVHGFTLGE KGEKMSKSLG NVIHPDVVVN GGQDQSKEPP YGADVLRWWV
710 720 730 740 750
ADSNVFTEVA IGPSVLNAAR DDISKLRNTL RFLLGNVADF NPETDSIPVN
760 770 780 790 800
DMYVIDQYML HLLQDLANKI TELYKQYDFG KVVRLLRTFY TRELSNFYFS
810 820 830 840 850
IIKDRLYCEK ENDPKRRSCQ TALVEILDVI VRSFAPILPH LAEEVFQHIP
860 870 880 890 900
YIKEPKSVFR TGWISTSSIW KKPGLEEAVE SACAMRDSFL GSIPGKNAAE
910 920 930 940 950
YKVITVIEPG LLFEIIEMLQ SEETSSTSQL NELMMASEST LLAQEPREMT
960 970 980 990 1000
ADVIELKGKF LINLEGGDIR EESSYKVIVM PTTKEKCPRC WKYTAESSDT
1010
LCPRCAEVVS GK
Length:1,012
Mass (Da):113,792
Last modified:May 2, 2006 - v2
Checksum:i7AAAC0C9DAD7A8C7
GO

Sequence cautioni

The sequence BAA91544 differs from that shown. Reason: Frameshift at position 879.Curated
The sequence BAB14164 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti647P → L in BAB14164 (PubMed:14702039).Curated1
Sequence conflicti907I → T in BAB14164 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05986214A → V. Corresponds to variant dbSNP:rs2577154EnsemblClinVar.1
Natural variantiVAR_034526522I → V. Corresponds to variant dbSNP:rs11800305EnsemblClinVar.1
Natural variantiVAR_072590708E → K Found in a patient with Leigh syndrome; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs143722284EnsemblClinVar.1
Natural variantiVAR_072591909P → L in CAGSSS. 1 PublicationCorresponds to variant dbSNP:rs587783070EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY267462 mRNA Translation: AAP94033.1
AC103590 Genomic DNA No translation available.
D28500 mRNA Translation: BAA95147.1
CH471100 Genomic DNA Translation: EAW93305.1
BC010218 mRNA Translation: AAH10218.2
BC040376 mRNA Translation: AAH40376.2
BC047880 mRNA Translation: AAH47880.3
BC137438 mRNA Translation: AAI37439.1
AK001188 mRNA Translation: BAA91544.1 Frameshift.
AK022665 mRNA Translation: BAB14164.1 Different initiation.
CCDSiCCDS1523.1
RefSeqiNP_060530.3, NM_018060.3
UniGeneiHs.262823

Genome annotation databases

EnsembliENST00000366922; ENSP00000355889; ENSG00000067704
GeneIDi55699
KEGGihsa:55699
UCSCiuc001hmc.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY267462 mRNA Translation: AAP94033.1
AC103590 Genomic DNA No translation available.
D28500 mRNA Translation: BAA95147.1
CH471100 Genomic DNA Translation: EAW93305.1
BC010218 mRNA Translation: AAH10218.2
BC040376 mRNA Translation: AAH40376.2
BC047880 mRNA Translation: AAH47880.3
BC137438 mRNA Translation: AAI37439.1
AK001188 mRNA Translation: BAA91544.1 Frameshift.
AK022665 mRNA Translation: BAB14164.1 Different initiation.
CCDSiCCDS1523.1
RefSeqiNP_060530.3, NM_018060.3
UniGeneiHs.262823

3D structure databases

ProteinModelPortaliQ9NSE4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120824, 67 interactors
IntActiQ9NSE4, 33 interactors
MINTiQ9NSE4
STRINGi9606.ENSP00000303279

Chemistry databases

DrugBankiDB00167 L-Isoleucine

PTM databases

iPTMnetiQ9NSE4
PhosphoSitePlusiQ9NSE4
SwissPalmiQ9NSE4

Polymorphism and mutation databases

BioMutaiIARS2
DMDMi94730583

Proteomic databases

EPDiQ9NSE4
MaxQBiQ9NSE4
PaxDbiQ9NSE4
PeptideAtlasiQ9NSE4
PRIDEiQ9NSE4
ProteomicsDBi82542

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000366922; ENSP00000355889; ENSG00000067704
GeneIDi55699
KEGGihsa:55699
UCSCiuc001hmc.4 human

Organism-specific databases

CTDi55699
DisGeNETi55699
EuPathDBiHostDB:ENSG00000067704.9
GeneCardsiIARS2
HGNCiHGNC:29685 IARS2
HPAiHPA024212
HPA024594
HPA024596
MalaCardsiIARS2
MIMi612801 gene
616007 phenotype
neXtProtiNX_Q9NSE4
OpenTargetsiENSG00000067704
PharmGKBiPA142671670
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0433 Eukaryota
COG0060 LUCA
GeneTreeiENSGT00550000074910
HOVERGENiHBG059862
InParanoidiQ9NSE4
KOiK01870
OMAiHLGTAWN
OrthoDBiEOG091G01LD
PhylomeDBiQ9NSE4
TreeFamiTF300518

Enzyme and pathway databases

ReactomeiR-HSA-379726 Mitochondrial tRNA aminoacylation

Miscellaneous databases

ChiTaRSiIARS2 human
GenomeRNAii55699
PROiPR:Q9NSE4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000067704 Expressed in 234 organ(s), highest expression level in parietal pleura
CleanExiHS_IARS2
GenevisibleiQ9NSE4 HS

Family and domain databases

CDDicd07960 Anticodon_Ia_Ile_BEm, 1 hit
Gene3Di3.40.50.620, 2 hits
3.90.740.10, 1 hit
HAMAPiMF_02002 Ile_tRNA_synth_type1, 1 hit
InterProiView protein in InterPro
IPR001412 aa-tRNA-synth_I_CS
IPR002300 aa-tRNA-synth_Ia
IPR033708 Anticodon_Ile_BEm
IPR002301 Ile-tRNA-ligase
IPR023585 Ile-tRNA-ligase_type1
IPR013155 M/V/L/I-tRNA-synth_anticd-bd
IPR014729 Rossmann-like_a/b/a_fold
IPR009080 tRNAsynth_Ia_anticodon-bd
IPR009008 Val/Leu/Ile-tRNA-synth_edit
IPR010663 Znf_FPG/IleRS
PfamiView protein in Pfam
PF08264 Anticodon_1, 1 hit
PF00133 tRNA-synt_1, 1 hit
PF06827 zf-FPG_IleRS, 1 hit
PRINTSiPR00984 TRNASYNTHILE
SUPFAMiSSF47323 SSF47323, 1 hit
SSF50677 SSF50677, 1 hit
TIGRFAMsiTIGR00392 ileS, 1 hit
PROSITEiView protein in PROSITE
PS00178 AA_TRNA_LIGASE_I, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSYIM_HUMAN
AccessioniPrimary (citable) accession number: Q9NSE4
Secondary accession number(s): B2RPG8
, Q1M2P9, Q6PI85, Q7L439, Q86WU9, Q96D91, Q9H9Q8, Q9NW42
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: May 2, 2006
Last modified: September 12, 2018
This is version 148 of the entry and version 2 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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Aminoacyl-tRNA synthetases
    List of aminoacyl-tRNA synthetase entries
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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