Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Probable arginine--tRNA ligase, mitochondrial

Gene

RARS2

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

  • arginine-tRNA ligase activity Source: GO_Central
  • ATP binding Source: UniProtKB-KW
  • RNA binding Source: UniProtKB

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.

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.
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.
OMAiHVKFGRI.
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:rs17850652Ensembl.1
Natural variantiVAR_037801331I → V1 PublicationCorresponds to variant dbSNP:rs3757370Ensembl.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: November 22, 2017
This is version 127 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