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Protein

Probable arginine--tRNA ligase, mitochondrial

Gene

RARS2

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

Functioni

Catalytic activityi

ATP + L-arginine + tRNA(Arg) = AMP + diphosphate + L-arginyl-tRNA(Arg).

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei144L-arginineBy similarity1
Binding sitei322L-arginineBy similarity1
Binding sitei326L-arginineBy similarity1
Binding sitei350L-arginineBy 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:
Probable arginine--tRNA ligase, mitochondrial (EC:6.1.1.19)
Alternative name(s):
Arginyl-tRNA synthetase
Short name:
ArgRS
Gene namesi
Name:RARS2
Synonyms:RARSL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000146282.17
HGNCiHGNC:21406 RARS2
MIMi611524 gene
neXtProtiNX_Q5T160

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

Pontocerebellar hypoplasia 6 (PCH6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by an abnormally small cerebellum and brainstem, infantile encephalopathy, generalized hypotonia, lethargy and poor feeding. Recurrent apnea, intractable seizures occur early in the course of this condition.
See also OMIM:611523

Keywords - Diseasei

Neurodegeneration, Pontocerebellar hypoplasia

Organism-specific databases

DisGeNETi57038
MalaCardsiRARS2
MIMi611523 phenotype
OpenTargetsiENSG00000146282
Orphaneti2254 Pontocerebellar hypoplasia type 1
166073 Pontocerebellar hypoplasia type 6
PharmGKBiPA162400662

Polymorphism and mutation databases

BioMutaiRARS2
DMDMi74744409

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 16MitochondrionSequence analysisAdd BLAST16
ChainiPRO_000025073117 – 578Probable arginine--tRNA ligase, mitochondrialAdd BLAST562

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei568N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ5T160
MaxQBiQ5T160
PaxDbiQ5T160
PeptideAtlasiQ5T160
PRIDEiQ5T160

PTM databases

iPTMnetiQ5T160
PhosphoSitePlusiQ5T160

Expressioni

Gene expression databases

BgeeiENSG00000146282
CleanExiHS_RARS2
ExpressionAtlasiQ5T160 baseline and differential
GenevisibleiQ5T160 HS

Organism-specific databases

HPAiHPA039987
HPA042645

Interactioni

Protein-protein interaction databases

BioGridi121334, 25 interactors
IntActiQ5T160, 7 interactors
MINTiQ5T160
STRINGi9606.ENSP00000358549

Structurei

3D structure databases

ProteinModelPortaliQ5T160
SMRiQ5T160
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni133 – 135L-arginine bindingBy similarity3

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi133 – 144"HIGH" regionAdd BLAST12

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1195 Eukaryota
COG0018 LUCA
GeneTreeiENSGT00530000063407
HOGENOMiHOG000247211
HOVERGENiHBG057355
InParanoidiQ5T160
KOiK01887
OMAiHGMSTRQ
OrthoDBiEOG091G06CK
PhylomeDBiQ5T160
TreeFamiTF300888

Family and domain databases

CDDicd00671 ArgRS_core, 1 hit
Gene3Di3.30.1360.70, 1 hit
3.40.50.620, 1 hit
InterProiView protein in InterPro
IPR001412 aa-tRNA-synth_I_CS
IPR001278 Arg-tRNA-ligase
IPR036695 Arg-tRNA-synth_N_sf
IPR035684 ArgRS_core
IPR008909 DALR_anticod-bd
IPR014729 Rossmann-like_a/b/a_fold
IPR009080 tRNAsynth_Ia_anticodon-bd
PANTHERiPTHR11956 PTHR11956, 1 hit
PfamiView protein in Pfam
PF05746 DALR_1, 1 hit
PF00750 tRNA-synt_1d, 1 hit
PRINTSiPR01038 TRNASYNTHARG
SMARTiView protein in SMART
SM00836 DALR_1, 1 hit
SUPFAMiSSF47323 SSF47323, 1 hit
SSF55190 SSF55190, 1 hit
TIGRFAMsiTIGR00456 argS, 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.

Q5T160-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MACGFRRAIA CQLSRVLNLP PENLITSISA VPISQKEEVA DFQLSVDSLL
60 70 80 90 100
EKDNDHSRPD IQVQAKRLAE KLRCDTVVSE ISTGQRTVNF KINRELLTKT
110 120 130 140 150
VLQQVIEDGS KYGLKSELFS GLPQKKIVVE FSSPNVAKKF HVGHLRSTII
160 170 180 190 200
GNFIANLKEA LGHQVIRINY LGDWGMQFGL LGTGFQLFGY EEKLQSNPLQ
210 220 230 240 250
HLFEVYVQVN KEAADDKSVA KAAQEFFQRL ELGDVQALSL WQKFRDLSIE
260 270 280 290 300
EYIRVYKRLG VYFDEYSGES FYREKSQEVL KLLESKGLLL KTIKGTAVVD
310 320 330 340 350
LSGNGDPSSI CTVMRSDGTS LYATRDLAAA IDRMDKYNFD TMIYVTDKGQ
360 370 380 390 400
KKHFQQVFQM LKIMGYDWAE RCQHVPFGVV QGMKTRRGDV TFLEDVLNEI
410 420 430 440 450
QLRMLQNMAS IKTTKELKNP QETAERVGLA ALIIQDFKGL LLSDYKFSWD
460 470 480 490 500
RVFQSRGDTG VFLQYTHARL HSLEETFGCG YLNDFNTACL QEPQSVSILQ
510 520 530 540 550
HLLRFDEVLY KSSQDFQPRH IVSYLLTLSH LAAVAHKTLQ IKDSPPEVAG
560 570
ARLHLFKAVR SVLANGMKLL GITPVCRM
Length:578
Mass (Da):65,505
Last modified:December 21, 2004 - v1
Checksum:i682075D065D88F82
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti48S → P in BAB14608 (PubMed:14702039).Curated1
Sequence conflicti149I → V in BAB14608 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037800291K → R1 PublicationCorresponds to variant dbSNP:rs17850652EnsemblClinVar.1
Natural variantiVAR_037801331I → V1 PublicationCorresponds to variant dbSNP:rs3757370EnsemblClinVar.1
Natural variantiVAR_037802367D → G. Corresponds to variant dbSNP:rs1108758Ensembl.1
Natural variantiVAR_076278436D → Y Found in a patient with complex IV deficiency and non-lethal infantile mitochondrial disease; unknown pathological significance. 1 Publication1
Natural variantiVAR_076279441L → F Found in a patient with complex IV deficiency and non-lethal infantile mitochondrial disease; unknown pathological significance. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK023550 mRNA Translation: BAB14608.1
AK315669 mRNA Translation: BAG38034.1
AL451126 Genomic DNA No translation available.
AL049697 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48584.1
BC010420 mRNA Translation: AAH10420.1
CCDSiCCDS5011.1
RefSeqiNP_064716.2, NM_020320.4
UniGeneiHs.485910

Genome annotation databases

EnsembliENST00000369536; ENSP00000358549; ENSG00000146282
GeneIDi57038
KEGGihsa:57038
UCSCiuc003pme.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSYRM_HUMAN
AccessioniPrimary (citable) accession number: Q5T160
Secondary accession number(s): B2RDT7, Q96FU5, Q9H8K8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: December 21, 2004
Last modified: May 23, 2018
This is version 132 of the entry and version 1 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. Aminoacyl-tRNA synthetases
    List of aminoacyl-tRNA synthetase entries
  2. Human chromosome 6
    Human chromosome 6: 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

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