U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    RARS1 arginyl-tRNA synthetase 1 [ Homo sapiens (human) ]

    Gene ID: 5917, updated on 4-Feb-2024

    Summary

    Official Symbol
    RARS1provided by HGNC
    Official Full Name
    arginyl-tRNA synthetase 1provided by HGNC
    Primary source
    HGNC:HGNC:9870
    See related
    Ensembl:ENSG00000113643 MIM:107820; AllianceGenome:HGNC:9870
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HLD9; RARS; ArgRS; DALRD1
    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 proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in duodenum (RPKM 28.0), small intestine (RPKM 25.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RARS1 in Genome Data Viewer
    Location:
    5q34
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (168486471..168519301)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (169021262..169054094)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (167913476..167946306)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene teneurin transmembrane protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23588 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16594 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16595 Neighboring gene TENM2 antisense RNA 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:167741294-167741817 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23589 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:167754608-167755524 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:167755525-167756441 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16597 Neighboring gene uncharacterized LOC124901129 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:167792124-167792657 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:167836336-167837535 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83602 Neighboring gene WW and C2 domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23590 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83610 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83640 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83662 Neighboring gene Sharpr-MPRA regulatory region 5384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:167956617-167957158 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83672 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:167962977-167963477 Neighboring gene solute carrier family 2 member 3 pseudogene 1 Neighboring gene fibrillarin like 1 Neighboring gene pantothenate kinase 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hypomyelinating leukodystrophy 9
    MedGen: C4015323 OMIM: 616140 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Interaction of HIV-1 Gag with arginyl-tRNA synthetase (RARS) is identified in a series of six affinity purification/mass spectrometry screens PubMed
    matrix gag HIV-1 MA is identified to have a physical interaction with arginyl-tRNA synthetase (RARS) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC8641

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables arginine binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables arginine-tRNA ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables arginine-tRNA ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables arginine-tRNA ligase activity TAS
    Traceable Author Statement
    more info
     
    enables cadherin binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables tRNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in arginyl-tRNA aminoacylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in arginyl-tRNA aminoacylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in tRNA aminoacylation for protein translation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    part_of aminoacyl-tRNA synthetase multienzyme complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    arginine--tRNA ligase, cytoplasmic
    Names
    arginine tRNA ligase 1, cytoplasmic
    arginyl-tRNA synthetase, cytoplasmic
    NP_002878.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_041809.1 RefSeqGene

      Range
      5014..37844
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002887.4NP_002878.2  arginine--tRNA ligase, cytoplasmic

      See identical proteins and their annotated locations for NP_002878.2

      Status: REVIEWED

      Source sequence(s)
      AU125370, BM984528, BT007394, CA439316
      Consensus CDS
      CCDS4367.1
      UniProtKB/Swiss-Prot
      B2RBS9, P54136, Q53GY4, Q9BWA1
      Related
      ENSP00000231572.3, ENST00000231572.8
      Conserved Domains (1) summary
      cl27258
      Location:80660
      tRNA-synt_1d; tRNA synthetases class I (R)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      168486471..168519301
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      169021262..169054094
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)