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Protein

Isoleucine--tRNA ligase, mitochondrial

Gene

IARS2

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

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:HS00916-MONOMER.
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

HGNCiHGNC:29685. IARS2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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 rs587783070dbSNPEnsembl.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.

PTM databases

iPTMnetiQ9NSE4.
PhosphoSitePlusiQ9NSE4.
SwissPalmiQ9NSE4.

Expressioni

Gene expression databases

BgeeiENSG00000067704.
CleanExiHS_IARS2.
GenevisibleiQ9NSE4. HS.

Organism-specific databases

HPAiHPA024212.
HPA024594.
HPA024596.

Interactioni

Protein-protein interaction databases

BioGridi120824. 60 interactors.
IntActiQ9NSE4. 19 interactors.
MINTiMINT-1490144.
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.
OMAiTHGFIVD.
OrthoDBiEOG091G01LD.
PhylomeDBiQ9NSE4.
TreeFamiTF300518.

Family and domain databases

CDDicd07960. Anticodon_Ia_Ile_BEm. 1 hit.
Gene3Di1.10.730.10. 1 hit.
3.40.50.620. 2 hits.
3.90.740.10. 1 hit.
HAMAPiMF_02002. Ile_tRNA_synth_type1. 1 hit.
InterProiIPR001412. 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.
[Graphical view]
PfamiPF08264. Anticodon_1. 1 hit.
PF00133. tRNA-synt_1. 1 hit.
PF06827. zf-FPG_IleRS. 1 hit.
[Graphical view]
PRINTSiPR00984. TRNASYNTHILE.
SUPFAMiSSF47323. SSF47323. 1 hit.
SSF50677. SSF50677. 1 hit.
TIGRFAMsiTIGR00392. ileS. 1 hit.
PROSITEiPS00178. AA_TRNA_LIGASE_I. 1 hit.
[Graphical view]

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 rs2577154dbSNPEnsembl.1
Natural variantiVAR_034526522I → V.Corresponds to variant rs11800305dbSNPEnsembl.1
Natural variantiVAR_072590708E → K Found in a patient with Leigh syndrome; unknown pathological significance. 1 PublicationCorresponds to variant rs143722284dbSNPEnsembl.1
Natural variantiVAR_072591909P → L in CAGSSS. 1 PublicationCorresponds to variant rs587783070dbSNPEnsembl.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

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. 60 interactors.
IntActiQ9NSE4. 19 interactors.
MINTiMINT-1490144.
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.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi55699.
DisGeNETi55699.
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.
OMAiTHGFIVD.
OrthoDBiEOG091G01LD.
PhylomeDBiQ9NSE4.
TreeFamiTF300518.

Enzyme and pathway databases

BioCyciZFISH:HS00916-MONOMER.
ReactomeiR-HSA-379726. Mitochondrial tRNA aminoacylation.

Miscellaneous databases

GenomeRNAii55699.
PROiQ9NSE4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000067704.
CleanExiHS_IARS2.
GenevisibleiQ9NSE4. HS.

Family and domain databases

CDDicd07960. Anticodon_Ia_Ile_BEm. 1 hit.
Gene3Di1.10.730.10. 1 hit.
3.40.50.620. 2 hits.
3.90.740.10. 1 hit.
HAMAPiMF_02002. Ile_tRNA_synth_type1. 1 hit.
InterProiIPR001412. 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.
[Graphical view]
PfamiPF08264. Anticodon_1. 1 hit.
PF00133. tRNA-synt_1. 1 hit.
PF06827. zf-FPG_IleRS. 1 hit.
[Graphical view]
PRINTSiPR00984. TRNASYNTHILE.
SUPFAMiSSF47323. SSF47323. 1 hit.
SSF50677. SSF50677. 1 hit.
TIGRFAMsiTIGR00392. ileS. 1 hit.
PROSITEiPS00178. AA_TRNA_LIGASE_I. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSYIM_HUMAN
AccessioniPrimary (citable) accession number: Q9NSE4
Secondary accession number(s): B2RPG8
, Q1M2P9, Q6PI85, Q7L439, Q86WU9, Q96D91, Q9H9Q8, Q9NW42
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: May 2, 2006
Last modified: November 2, 2016
This is version 132 of the entry and version 2 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 1
    Human chromosome 1: 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.