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

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5917
Gene name	Arginyl-tRNA synthetase 1
Gene symbol	RARS1
Synonyms (NCBI Gene)	ArgRSDALRD1HLD9RARS
Chromosome	5
Chromosome location	5q34
Summary	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 (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0004812	Function	Aminoacyl-tRNA ligase activity	IEA
GO:0004814	Function	Arginine-tRNA ligase activity	IBA
GO:0004814	Function	Arginine-tRNA ligase activity	IDA	25288775
GO:0004814	Function	Arginine-tRNA ligase activity	IEA
GO:0004814	Function	Arginine-tRNA ligase activity	TAS
GO:0005515	Function	Protein binding	IPI	9556618, 16055448, 24656866, 28514442, 32296183, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	10791971
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IDA	10791971
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	7590355
GO:0005829	Component	Cytosol	IDA	19289464
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006412	Process	Translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0006420	Process	Arginyl-tRNA aminoacylation	IBA
GO:0006420	Process	Arginyl-tRNA aminoacylation	IDA	25288775
GO:0006420	Process	Arginyl-tRNA aminoacylation	IEA
GO:0006420	Process	Arginyl-tRNA aminoacylation	TAS	7590355
GO:0016020	Component	Membrane	HDA	19946888
GO:0016874	Function	Ligase activity	IEA
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IDA	19131329
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IEA
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

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypomyelinating leukodystrophy 9	Likely pathogenic; Pathogenic	rs1758704447, rs1422385923, rs672601372, rs672601373, rs672601374, rs672601375, rs369398935, rs1064792894, rs769713780, rs1358682351, rs779915495	RCV003484443 RCV001783665 RCV000149498 RCV000149499 RCV000149500 RCV000149501 RCV000149502 RCV000256225 RCV000785104 RCV005628295 RCV001255852
Leukodystrophy	Likely pathogenic	rs779915495	RCV004798897
RARS1-related disorder	Likely pathogenic	rs1758706556	RCV003406235

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs10042188	RCV005896638
Cholangiocarcinoma	Benign	rs2305728	RCV005896308
Colon adenocarcinoma	Benign	rs2290629	RCV005896337
Colorectal cancer	Benign	rs2305727, rs2305728	RCV005896302 RCV005896306
Familial cancer of breast	Benign; Likely benign	rs202160674	RCV005898826
Gastric cancer	Benign; Likely benign	rs17633733, rs202160674	RCV005919615 RCV005898828
Hepatocellular carcinoma	Benign	rs147649300, rs17633733	RCV005914200 RCV005919613
Lung cancer	Benign	rs17633733, rs2290629	RCV005919616 RCV005896343
Malignant lymphoma, large B-cell, diffuse	Benign	rs17633733, rs2305727, rs2305728	RCV005919614 RCV005896301 RCV005896305
Malignant tumor of esophagus	Benign	rs2290629	RCV005896338
Melanoma	Benign	rs2290629	RCV005896342
Ovarian cancer	Benign; Likely benign	rs202160674	RCV005898827
Ovarian serous cystadenocarcinoma	Benign	rs10042188, rs2290629	RCV005896640 RCV005896340
Pancreatic adenocarcinoma	Benign	rs2305728	RCV005896304
Sarcoma	Benign	rs10042188, rs2290629	RCV005896639 RCV005896339
Thymoma	Benign	rs10042188, rs2290629	RCV005896642 RCV005896341
Uterine carcinosarcoma	Benign	rs2305727, rs10042188, rs2305728	RCV005896303 RCV005896641 RCV005896307
Uterine corpus endometrial carcinoma	Benign	rs10042188, rs2290629	RCV005896643 RCV005896344

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)