UniProtKB - Q5T160 (SYRM_HUMAN)
Protein
Probable arginine--tRNA ligase, mitochondrial
Gene
RARS2
Organism
Homo sapiens (Human)
Status
Functioni
Catalytic activityi
- EC:6.1.1.19
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 144 | L-arginineBy similarity | 1 | |
Binding sitei | 322 | L-arginineBy similarity | 1 | |
Binding sitei | 326 | L-arginineBy similarity | 1 | |
Binding sitei | 350 | L-arginineBy similarity | 1 |
GO - Molecular functioni
- arginine-tRNA ligase activity Source: GO_Central
- ATP binding Source: UniProtKB-KW
- RNA binding Source: UniProtKB
GO - Biological processi
- arginyl-tRNA aminoacylation Source: GO_Central
- mitochondrial translation Source: GO_Central
- tRNA aminoacylation for protein translation Source: Reactome
Keywordsi
Molecular function | Aminoacyl-tRNA synthetase, Ligase |
Biological process | Protein biosynthesis |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q5T160 |
Reactomei | R-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 |
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:21406, RARS2 |
MIMi | 611524, gene |
neXtProti | NX_Q5T160 |
VEuPathDBi | HostDB:ENSG00000146282.17 |
Subcellular locationi
Mitochondrion
- Mitochondrion matrix By similarity
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrion Source: GO_Central
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
Pontocerebellar hypoplasia 6 (PCH6)1 Publication
The disease is caused by variants 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.
Related information in OMIMKeywords - Diseasei
Neurodegeneration, Pontocerebellar hypoplasiaOrganism-specific databases
DisGeNETi | 57038 |
MalaCardsi | RARS2 |
MIMi | 611523, phenotype |
OpenTargetsi | ENSG00000146282 |
Orphaneti | 2254, Pontocerebellar hypoplasia type 1 166073, Pontocerebellar hypoplasia type 6 |
PharmGKBi | PA162400662 |
Miscellaneous databases
Pharosi | Q5T160, Tbio |
Genetic variation databases
BioMutai | RARS2 |
DMDMi | 74744409 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 16 | MitochondrionSequence analysisAdd BLAST | 16 | |
ChainiPRO_0000250731 | 17 – 578 | Probable arginine--tRNA ligase, mitochondrialAdd BLAST | 562 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 568 | N6-acetyllysineBy similarity | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q5T160 |
jPOSTi | Q5T160 |
MassIVEi | Q5T160 |
MaxQBi | Q5T160 |
PaxDbi | Q5T160 |
PeptideAtlasi | Q5T160 |
PRIDEi | Q5T160 |
ProteomicsDBi | 64235 |
PTM databases
iPTMneti | Q5T160 |
PhosphoSitePlusi | Q5T160 |
Expressioni
Gene expression databases
Bgeei | ENSG00000146282, Expressed in adrenal tissue and 210 other tissues |
ExpressionAtlasi | Q5T160, baseline and differential |
Genevisiblei | Q5T160, HS |
Organism-specific databases
HPAi | ENSG00000146282, Low tissue specificity |
Interactioni
Binary interactionsi
Hide detailsQ5T160
With | #Exp. | IntAct |
---|---|---|
COMT - isoform Soluble [P21964-2] | 3 | EBI-1050546,EBI-10200977 |
TGM2 - isoform 2 [P21980-2] | 3 | EBI-1050546,EBI-25842075 |
Protein-protein interaction databases
BioGRIDi | 121334, 35 interactors |
IntActi | Q5T160, 22 interactors |
MINTi | Q5T160 |
STRINGi | 9606.ENSP00000358549 |
Miscellaneous databases
RNActi | Q5T160, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 133 – 135 | L-arginine bindingBy similarity | 3 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 133 – 144 | 'HIGH' regionAdd BLAST | 12 |
Sequence similaritiesi
Belongs to the class-I aminoacyl-tRNA synthetase family.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG1195, Eukaryota |
GeneTreei | ENSGT00530000063407 |
HOGENOMi | CLU_006406_6_2_1 |
InParanoidi | Q5T160 |
OMAi | YEFKWER |
OrthoDBi | 463402at2759 |
PhylomeDBi | Q5T160 |
TreeFami | TF300888 |
Family and domain databases
CDDi | cd00671, ArgRS_core, 1 hit |
Gene3Di | 3.30.1360.70, 1 hit 3.40.50.620, 1 hit |
InterProi | View 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 |
PANTHERi | PTHR11956, PTHR11956, 1 hit |
Pfami | View protein in Pfam PF05746, DALR_1, 1 hit PF00750, tRNA-synt_1d, 1 hit |
PRINTSi | PR01038, TRNASYNTHARG |
SMARTi | View protein in SMART SM00836, DALR_1, 1 hit |
SUPFAMi | SSF47323, SSF47323, 1 hit SSF55190, SSF55190, 1 hit |
TIGRFAMsi | TIGR00456, argS, 1 hit |
PROSITEi | View protein in PROSITE PS00178, AA_TRNA_LIGASE_I, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q5T160-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH0Y450 | H0Y450_HUMAN | Arginyl-tRNA synthetase | RARS2 | 206 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 48 | S → P in BAB14608 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 149 | I → V in BAB14608 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_037800 | 291 | K → R1 PublicationCorresponds to variant dbSNP:rs17850652EnsemblClinVar. | 1 | |
Natural variantiVAR_037801 | 331 | I → V1 PublicationCorresponds to variant dbSNP:rs3757370EnsemblClinVar. | 1 | |
Natural variantiVAR_037802 | 367 | D → G. Corresponds to variant dbSNP:rs1108758Ensembl. | 1 | |
Natural variantiVAR_076278 | 436 | D → Y Found in a patient with complex IV deficiency and non-lethal infantile mitochondrial disease; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_076279 | 441 | L → F Found in a patient with complex IV deficiency and non-lethal infantile mitochondrial disease; unknown pathological significance. 1 Publication | 1 |
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 |
CCDSi | CCDS5011.1 |
RefSeqi | NP_064716.2, NM_020320.4 |
Genome annotation databases
Ensembli | ENST00000369536; ENSP00000358549; ENSG00000146282 |
GeneIDi | 57038 |
KEGGi | hsa:57038 |
UCSCi | uc003pme.4, human |
Similar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS5011.1 |
RefSeqi | NP_064716.2, NM_020320.4 |
3D structure databases
SMRi | Q5T160 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 121334, 35 interactors |
IntActi | Q5T160, 22 interactors |
MINTi | Q5T160 |
STRINGi | 9606.ENSP00000358549 |
PTM databases
iPTMneti | Q5T160 |
PhosphoSitePlusi | Q5T160 |
Genetic variation databases
BioMutai | RARS2 |
DMDMi | 74744409 |
Proteomic databases
EPDi | Q5T160 |
jPOSTi | Q5T160 |
MassIVEi | Q5T160 |
MaxQBi | Q5T160 |
PaxDbi | Q5T160 |
PeptideAtlasi | Q5T160 |
PRIDEi | Q5T160 |
ProteomicsDBi | 64235 |
Protocols and materials databases
Antibodypediai | 31811, 66 antibodies |
Genome annotation databases
Ensembli | ENST00000369536; ENSP00000358549; ENSG00000146282 |
GeneIDi | 57038 |
KEGGi | hsa:57038 |
UCSCi | uc003pme.4, human |
Organism-specific databases
CTDi | 57038 |
DisGeNETi | 57038 |
GeneCardsi | RARS2 |
HGNCi | HGNC:21406, RARS2 |
HPAi | ENSG00000146282, Low tissue specificity |
MalaCardsi | RARS2 |
MIMi | 611523, phenotype 611524, gene |
neXtProti | NX_Q5T160 |
OpenTargetsi | ENSG00000146282 |
Orphaneti | 2254, Pontocerebellar hypoplasia type 1 166073, Pontocerebellar hypoplasia type 6 |
PharmGKBi | PA162400662 |
VEuPathDBi | HostDB:ENSG00000146282.17 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1195, Eukaryota |
GeneTreei | ENSGT00530000063407 |
HOGENOMi | CLU_006406_6_2_1 |
InParanoidi | Q5T160 |
OMAi | YEFKWER |
OrthoDBi | 463402at2759 |
PhylomeDBi | Q5T160 |
TreeFami | TF300888 |
Enzyme and pathway databases
PathwayCommonsi | Q5T160 |
Reactomei | R-HSA-379726, Mitochondrial tRNA aminoacylation |
Miscellaneous databases
BioGRID-ORCSi | 57038, 409 hits in 880 CRISPR screens |
ChiTaRSi | RARS2, human |
GenomeRNAii | 57038 |
Pharosi | Q5T160, Tbio |
PROi | PR:Q5T160 |
RNActi | Q5T160, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000146282, Expressed in adrenal tissue and 210 other tissues |
ExpressionAtlasi | Q5T160, baseline and differential |
Genevisiblei | Q5T160, HS |
Family and domain databases
CDDi | cd00671, ArgRS_core, 1 hit |
Gene3Di | 3.30.1360.70, 1 hit 3.40.50.620, 1 hit |
InterProi | View 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 |
PANTHERi | PTHR11956, PTHR11956, 1 hit |
Pfami | View protein in Pfam PF05746, DALR_1, 1 hit PF00750, tRNA-synt_1d, 1 hit |
PRINTSi | PR01038, TRNASYNTHARG |
SMARTi | View protein in SMART SM00836, DALR_1, 1 hit |
SUPFAMi | SSF47323, SSF47323, 1 hit SSF55190, SSF55190, 1 hit |
TIGRFAMsi | TIGR00456, argS, 1 hit |
PROSITEi | View protein in PROSITE PS00178, AA_TRNA_LIGASE_I, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SYRM_HUMAN | |
Accessioni | Q5T160Primary (citable) accession number: Q5T160 Secondary accession number(s): B2RDT7, Q96FU5, Q9H8K8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 3, 2006 |
Last sequence update: | December 21, 2004 | |
Last modified: | February 10, 2021 | |
This is version 148 of the entry and version 1 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
- 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 - Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Aminoacyl-tRNA synthetases
List of aminoacyl-tRNA synthetase entries