RARS2
entrez
57038
canonical
uniprot
Q5T160
canonical
ensembl
ENSG00000146282
resolver
ensp
ENSP00000358549
resolver
ensp
ENSP00000389656
resolver
ensp
ENSP00000509026
resolver
ensp
ENSP00000509147
resolver
ensp
ENSP00000509195
resolver
ensp
ENSP00000509453
resolver
ensp
ENSP00000509712
resolver
ensp
ENSP00000510542
resolver
ensp
ENSP00000677170
resolver
ensp
ENSP00000775639
resolver
enst
ENST00000369536
resolver
enst
ENST00000685408
resolver
enst
ENST00000689174
resolver
enst
ENST00000691725
resolver
enst
ENST00000692684
resolver
enst
ENST00000693327
resolver
enst
ENST00000693431
resolver
genesymbol
RARS2
resolver
genesymbol_syn
RARSL
resolver
hgnc
HGNC:21406
resolver
uniprot
A0A8I5KPZ0
resolver
uniprot
A0A8I5KWC6
resolver
uniprot
B2RDT7
resolver
uniprot
H0UI22
resolver
uniprot
H0UI23
resolver
uniprot
Q96FU5
resolver
uniprot
Q9H8K8
resolver
uniprot_entry
A0A8I5KPZ0_HUMAN
resolver
uniprot_entry
A0A8I5KWC6_HUMAN
resolver
uniprot_entry
H0UI22_HUMAN
resolver
uniprot_entry
SYRM_HUMAN
resolver
uniprot_sec
B2RDT7
resolver
uniprot_sec
H0UI23
resolver
uniprot_sec
Q96FU5
resolver
uniprot_sec
Q9H8K8
resolver
amino_acid_sequence
MACGFRRAIACQLSRVLNLPPENLITSISAVPISQKEEVADFQLSVDSLLEKDNDHSRPDIQVQAKRLAEKLRCDTVVSEISTGQRTVNFKINRELLTKTVLQQVIEDGSKYGLKSELFSGLPQKKIVVEFSSPNVAKKFHVGHLRSTIIGNFIANLKEALGHQVIRINYLGDWGMQFGLLGTGFQLFGYEEKLQSNPLQHLFEVYVQVNKEAADDKSVAKAAQEFFQRLELGDVQALSLWQKFRDLSIEEYIRVYKRLGVYFDEYSGESFYREKSQEVLKLLESKGLLLKTIKGTAVVDLSGNGDPSSICTVMRSDGTSLYATRDLAAAIDRMDKYNFDTMIYVTDKGQKKHFQQVFQMLKIMGYDWAERCQHVPFGVVQGMKTRRGDVTFLEDVLNEIQLRMLQNMASIKTTKELKNPQETAERVGLAALIIQDFKGLLLSDYKFSWDRVFQSRGDTGVFLQYTHARLHSLEETFGCGYLNDFNTACLQEPQSVSILQHLLRFDEVLYKSSQDFQPRHIVSYLLTLSHLAAVAHKTLQIKDSPPEVAGARLHLFKAVRSVLANGMKLLGITPVCRM
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:17847012, ECO:0000269|PubMed:30006346}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.1.1.19
uniprot
proteins
function
FUNCTION: Catalyzes the attachment of arginine to tRNA(Arg) in a two-step reaction: arginine is first activated by ATP to form Arg-AMP and then transferred to the acceptor end of tRNA(Arg). {ECO:0000269|PubMed:17847012}.
uniprot
proteins
mass_dalton
65505
uniprot
proteins
mutagenesis
MUTAGEN 9; /note="I->V: No effect on mitochondrial membrane localization."; /evidence="ECO:0000269|PubMed:30006346"; MUTAGEN 12; /note="Q->R: No effect on mitochondrial membrane localization."; /evidence="ECO:0000269|PubMed:30006346"; MUTAGEN 241; /note="W->R: No effect on mitochondrial membrane localization."; /evidence="ECO:0000269|PubMed:30006346"; MUTAGEN 245; /note="R->Q: No effect on mitochondrial membrane localization."; /evidence="ECO:0000269|PubMed:30006346"; MUTAGEN 258; /note="R->H: No effect on mitochondrial membrane localization."; /evidence="ECO:0000269|PubMed:30006346"; MUTAGEN 283; /note="L->Q: No effect on mitochondrial membrane localization."; /evidence="ECO:0000269|PubMed:30006346"; MUTAGEN 333; /note="R->G: No effect on mitochondrial membrane localization."; /evidence="ECO:0000269|PubMed:30006346"; MUTAGEN 342; /note="M->V: No effect on mitochondrial membrane localization."; /evidence="ECO:0000269|PubMed:30006346"; MUTAGEN 404; /note="M->K: No effect on mitochondrial membrane localization."; /evidence="ECO:0000269|PubMed:30006346"; MUTAGEN 469; /note="R->H: No effect on mitochondrial membrane localization."; /evidence="ECO:0000269|PubMed:30006346"; MUTAGEN 478; /note="G->R: No effect on mitochondrial membrane localization."; /evidence="ECO:0000269|PubMed:30006346"; MUTAGEN 530; /note="H->Y: No effect on mitochondrial membrane localization."; /evidence="ECO:0000269|PubMed:30006346
uniprot
proteins
protein_family
Class-I aminoacyl-tRNA synthetase family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15779907
uniprot
proteins
pubmed
17847012
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26741492
uniprot
proteins
pubmed
30006346
uniprot
proteins
pubmed
33798445
uniprot
proteins
sequence_length
578
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:30006346}.
uniprot
proteins