RARS1
entrez
5917
canonical
uniprot
P54136
canonical
ensembl
ENSG00000113643
resolver
ensp
ENSP00000231572
resolver
genesymbol
RARS1
resolver
genesymbol_syn
RARS
resolver
hgnc
HGNC:9870
resolver
uniprot
B2RBS9
resolver
uniprot
Q53GY4
resolver
uniprot
Q9BWA1
resolver
uniprot_entry
SYRC_HUMAN
resolver
uniprot_sec
B2RBS9
resolver
uniprot_sec
Q53GY4
resolver
uniprot_sec
Q9BWA1
resolver
amino_acid_sequence
MDVLVSECSARLLQQEEEIKSLTAEIDRLKNCGCLGASPNLEQLQEENLKLKYRLNILRKSLQAERNKPTKNMINIISRLQEVFGHAIKAAYPDLENPPLLVTPSQQAKFGDYQCNSAMGISQMLKTKEQKVNPREIAENITKHLPDNECIEKVEIAGPGFINVHLRKDFVSEQLTSLLVNGVQLPALGENKKVIVDFSSPNIAKEMHVGHLRSTIIGESISRLFEFAGYDVLRLNHVGDWGTQFGMLIAHLQDKFPDYLTVSPPIGDLQVFYKESKKRFDTEEEFKKRAYQCVVLLQGKNPDITKAWKLICDVSRQELNKIYDALDVSLIERGESFYQDRMNDIVKEFEDRGFVQVDDGRKIVFVPGCSIPLTIVKSDGGYTYDTSDLAAIKQRLFEEKADMIIYVVDNGQSVHFQTIFAAAQMIGWYDPKVTRVFHAGFGVVLGEDKKKFKTRSGETVRLMDLLGEGLKRSMDKLKEKERDKVLTAEELNAAQTSVAYGCIKYADLSHNRLNDYIFSFDKMLDDRGNTAAYLLYAFTRIRSIARLANIDEEMLQKAARETKILLDHEKEWKLGRCILRFPEILQKILDDLFLHTLCDYIYELATAFTEFYDSCYCVEKDRQTGKILKVNMWRMLLCEAVAAVMAKGFDILGIKPVQRM
uniprot
proteins
disease_involvement
DISEASE: Leukodystrophy, hypomyelinating, 9 (HLD9) [MIM:616140]: An autosomal recessive neurodegenerative disorder characterized by delayed psychomotor development, severe spasticity, nystagmus, and ataxia associated with diffuse hypomyelination apparent on brain MRI. {ECO:0000269|PubMed:24777941}. 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: Forms part of a macromolecular complex that catalyzes the attachment of specific amino acids to cognate tRNAs during protein synthesis (PubMed:25288775). Modulates the secretion of AIMP1 and may be involved in generation of the inflammatory cytokine EMAP2 from AIMP1 (PubMed:17443684). {ECO:0000269|PubMed:17443684, ECO:0000269|PubMed:25288775}.
uniprot
proteins
mass_dalton
75379
uniprot
proteins
protein_family
Class-I aminoacyl-tRNA synthetase family
uniprot
proteins
pubmed
10358004
uniprot
proteins
pubmed
10791971
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16055448
uniprot
proteins
pubmed
16430231
uniprot
proteins
pubmed
17443684
uniprot
proteins
pubmed
19131329
uniprot
proteins
pubmed
19289464
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24656866
uniprot
proteins
pubmed
24777941
uniprot
proteins
pubmed
24859084
uniprot
proteins
pubmed
25288775
uniprot
proteins
pubmed
37316325
uniprot
proteins
pubmed
7590355
uniprot
proteins
sequence_length
660
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10791971, ECO:0000269|PubMed:16055448, ECO:0000269|PubMed:16430231}. Cytoplasm, cytosol {ECO:0000269|PubMed:19289464}.
uniprot
proteins