RARS1 (arginyl-tRNA synthetase 1)

Gene

• Entrez ID: 5917
• Gene name: Arginyl-tRNA synthetase 1
• Gene symbol: RARS1
• Synonyms (NCBI Gene): ArgRS, DALRD1, HLD9, RARS
• 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

SNPs

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

Gene ontology (GO)

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

Other IDs

• MIM: 107820
• HGNC: 9870
• e!Ensembl: 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

Pathways

KEGG:

Aminoacyl-tRNA biosynthesis

Reactome:

Cytosolic tRNA aminoacylation

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Hypomyelinating Leukodystrophy	Hypomyelinating leukodystrophy 9	rs672601372, rs672601373, rs672601374, rs672601375, rs369398935, rs1064792894, rs769713780	N/A

Associations from Text Mining
Disease Name	Relationship Type	References
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