Homo sapiens Protein: RARS2
Summary
InnateDB Protein IDBP-94170.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RARS2
Protein Name arginyl-tRNA synthetase 2, mitochondrial
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000358549
InnateDB Gene IDBG-94168 (RARS2)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Mitochondrion matrix {ECO:0000250}.
Disease Associations Pontocerebellar hypoplasia 6 (PCH6) [MIM:611523]: A 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. {ECO:0000269PubMed:17847012}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0004812 aminoacyl-tRNA ligase activity
GO:0004814 arginine-tRNA ligase activity
GO:0005524 ATP binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0006418 tRNA aminoacylation for protein translation
GO:0006420 arginyl-tRNA aminoacylation
GO:0010467 gene expression
Cellular Component
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
Protein Structure and Domains
PDB ID
InterPro IPR001278 Arginine-tRNA ligase
IPR005148 Arginyl tRNA synthetase N-terminal domain
IPR008909 DALR anticodon binding
IPR009080 Aminoacyl-tRNA synthetase, class 1a, anticodon-binding
PFAM PF00750
PF03485
PF05746
PRINTS PR01038
PIRSF
SMART SM01016
SM00836
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q5T160
PhosphoSite PhosphoSite-Q5T160
TrEMBL H0UI22
UniProt Splice Variant
Entrez Gene 57038
UniGene Hs.485910
RefSeq NP_064716
HUGO HGNC:21406
OMIM 611524
CCDS CCDS5011
HPRD 15209
IMGT
EMBL AK023550 AK315669 AL049697 AL451126 BC010420 CH471051
GenPept AAH10420 BAB14608 BAG38034 CAI10899 CAI20376 EAW48584 EAW48588 EAW48590 EAW48591