Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5917
Gene name Gene Name - the full gene name approved by the HGNC.	Arginyl-tRNA synthetase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RARS1
Synonyms (NCBI Gene) Gene synonyms aliases	ArgRS, DALRD1, HLD9, RARS
Disease Acronyms (UniProt) Disease acronyms from UniProt database	HLD9
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q34
Summary Summary of gene provided in NCBI Entrez Gene.	Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first prot

Show/Hide all(13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs139644798	C>T	Pathogenic	Coding sequence variant, missense variant
rs180760483	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs369398935	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs672601372	A>C,G,T	Pathogenic	Coding sequence variant, missense variant
rs672601373	G>A,T	Pathogenic	Splice donor variant
rs672601374	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs672601375	A>G	Pathogenic	Initiator codon variant, missense variant
rs754997301	TG>-,TGTG	Pathogenic	Frameshift variant, coding sequence variant
rs757249400	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs768923402	TGTATTGAA>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs769713780	T>A,C,G	Pathogenic	Missense variant, initiator codon variant
rs1057518618	AAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064792894	TA>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IEA
GO:0004814	Function	Arginine-tRNA ligase activity	IBA	21873635
GO:0004814	Function	Arginine-tRNA ligase activity	IDA	25288775
GO:0004814	Function	Arginine-tRNA ligase activity	TAS
GO:0005515	Function	Protein binding	IPI	16055448, 24656866, 28514442, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	10791971
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	10791971
GO:0005829	Component	Cytosol	IDA	19289464
GO:0005829	Component	Cytosol	TAS
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0006420	Process	Arginyl-tRNA aminoacylation	IBA	21873635
GO:0006420	Process	Arginyl-tRNA aminoacylation	IDA	25288775
GO:0016020	Component	Membrane	HDA	19946888
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IDA	19131329
GO:0034618	Function	Arginine binding	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0070062	Component	Extracellular exosome	HDA	19056867

MIM	HGNC	e!Ensembl
107820	9870	ENSG00000113643

Protein

UniProt ID

P54136

Protein name

Arginine--tRNA ligase, cytoplasmic (EC 6.1.1.19) (Arginyl-tRNA synthetase) (ArgRS)

Protein 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 cyto

PDB

4Q2T , 4Q2X , 4Q2Y , 4R3Z , 4ZAJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03485	Arg_tRNA_synt_N	78 → 166	Arginyl tRNA synthetase N terminal domain	Domain
PF00750	tRNA-synt_1d	174 → 520	tRNA synthetases class I (R)	Family
PF05746	DALR_1	534 → 660	DALR anticodon binding domain	Domain

Sequence

MDVLVSECSARLLQQEEEIKSLTAEIDRLKNCGCLGASPNLEQLQEENLKLKYRLNILRK
SLQAERNKPTKNMINIISRLQEVFGHAIKAAYPDLENPPLLVTPSQQAKFGDYQCNSAMG
ISQMLKTKEQKVNPREIAENITKHLPDNECIEKVEIAGPGFINVHLRKDFVSEQLTSLLV
NGVQLPALGENKKVIVDFSSPNIAKEMHVGHLRSTIIGESISRLFEFAGYDVLRLNHVGD
WGTQFGMLIAHLQDKFPDYLTVSPPIGDLQVFYKESKKRFDTEEEFKKRAYQCVVLLQGK
NPDITKAWKLICDVSRQELNKIYDALDVSLIERGESFYQDRMNDIVKEFEDRGFVQVDDG
RKIVFVPGCSIPLTIVKSDGGYTYDTSDLAAIKQRLFEEKADMIIYVVDNGQSVHFQTIF
AAAQMIGWYDPKVTRVFHAGFGVVLGEDKKKFKTRSGETVRLMDLLGEGLKRSMDKLKEK
ERDKVLTAEELNAAQTSVAYGCIKYADLSHNRLNDYIFSFDKMLDDRGNTAAYLLYAFTR
IRSIARLANIDEEMLQKAARETKILLDHEKEWKLGRCILRFPEILQKILDDLFLHTLCDY
IYELATAFTEFYDSCYCVEKDRQTGKILKVNMWRMLLCEAVAAVMAKGFDILGIKPVQRM

Sequence length

660

Interactions

View interactions

	KEGG		Reactome
	Aminoacyl-tRNA biosynthesis		Cytosolic tRNA aminoacylation

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)	24777941
Hypomyelinating leukodystrophy	RARS-related autosomal recessive hypomyelinating leukodystrophy	rs74315311, rs74315312, rs796065027, rs74315313, rs74315314, rs796065028, rs796065029, rs132630292, rs72466451, rs387906865, rs587776888, rs191582628, rs141156009, rs587776983, rs483352809 View all (91 more)
Leukodystrophy	Leukodystrophy, LEUKODYSTROPHY, HYPOMYELINATING, 9	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604 View all (6 more)	24777941, 27564080, 28905880
Mental retardation	Mild Mental Retardation, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	24777941
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896	24777941

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma	Associate	33234735
Brain Diseases	Associate	31814314
Carcinoma Non Small Cell Lung	Associate	36628612
Cell Transformation Neoplastic	Associate	32802869
Colorectal Neoplasms	Associate	32802869
Demyelinating Diseases	Associate	28905880
Intellectual Disability	Associate	30500859
Leukodystrophy Metachromatic	Associate	29451896
Monoclonal Gammopathy of Undetermined Significance	Associate	37587064
Multiple Myeloma	Associate	37587064
Muscle Spasticity	Associate	31814314
Neoplasms	Associate	37587064
Nystagmus Pathologic	Associate	31814314
Pelizaeus Merzbacher Disease	Associate	28905880
Pelizaeus Merzbacher like disease autosomal recessive 2	Associate	29451896, 31814314
Phenylketonurias	Associate	36312597
Pulmonary Disease Chronic Obstructive	Associate	26736064
Uterine Cervical Neoplasms	Associate	21736279

RARS1 (arginyl-tRNA synthetase 1)