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    GARS1 glycyl-tRNA synthetase 1 [ Homo sapiens (human) ]

    Gene ID: 2617, updated on 17-Jun-2024

    Summary

    Official Symbol
    GARS1provided by HGNC
    Official Full Name
    glycyl-tRNA synthetase 1provided by HGNC
    Primary source
    HGNC:HGNC:4162
    See related
    Ensembl:ENSG00000106105 MIM:600287; AllianceGenome:HGNC:4162
    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
    GARS; HMN5; CMT2D; DSMAV; GlyRS; HMN5A; HMND5; SMAD1; SMAJI
    Summary
    This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
    Expression
    Ubiquitous expression in thyroid (RPKM 31.7), testis (RPKM 29.9) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See GARS1 in Genome Data Viewer
    Location:
    7p14.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (30594735..30634033)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (30732340..30771637)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (30634351..30673649)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:30588305-30588806 Neighboring gene TRPC6 pseudogene 10 Neighboring gene GARS1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25815 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:30633949-30634562 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:30634563-30635176 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:30635177-30635790 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:30681423-30682118 Neighboring gene uncharacterized LOC124901609 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:30692507-30693496 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:30694345-30695544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30701754-30702296 Neighboring gene corticotropin releasing hormone receptor 2 Neighboring gene MPRA-validated peak6463 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18070 Neighboring gene uncharacterized LOC124901608

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables glycine-tRNA ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables glycine-tRNA ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables glycine-tRNA ligase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein dimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in secretory granule IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    glycine--tRNA ligase
    Names
    AP-4-A synthetase
    Charcot-Marie-Tooth neuropathy 2D
    Charcot-Marie-Tooth neuropathy, neuronal type, D
    ap4A synthetase
    diadenosine tetraphosphate synthetase
    NP_001303701.1
    NP_002038.2

    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_007942.1 RefSeqGene

      Range
      5001..44469
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_243

    mRNA and Protein(s)

    1. NM_001316772.1NP_001303701.1  glycine--tRNA ligase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an upstream transcription start site compared to variant 1. This variant contains a uORF that was shown in PMID: 26327585 to block translation from the same start codon used in variant 1. Therefore, this variant uses a downstream translation initiation site compared to variant 1 and encodes an isoform (2) that is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AA464978, AC005154, BC007755, DA386636
      UniProtKB/TrEMBL
      A0A6Q8PGA8
      Related
      ENSP00000502174.1, ENST00000675693.1
      Conserved Domains (4) summary
      PLN02734
      Location:7670
      PLN02734; glycyl-tRNA synthetase
      cd00774
      Location:70416
      GlyRS-like_core; Glycyl-tRNA synthetase (GlyRS)-like class II core catalytic domain. GlyRS functions as a homodimer in eukaryotes, archaea and some bacteria and as a heterotetramer in the remainder of prokaryotes. It is responsible for the attachment of glycine to the 3' ...
      cd00858
      Location:534657
      GlyRS_anticodon; GlyRS Glycyl-anticodon binding domain. GlyRS belongs to class II aminoacyl-tRNA synthetases (aaRS). This alignment contains the anticodon binding domain, which is responsible for specificity in tRNA-binding, so that the activated amino acid is ...
      cd00935
      Location:1060
      GlyRS_RNA; GlyRS_RNA binding domain. This short RNA-binding domain is found at the N-terminus of GlyRS in several higher eukaryote aminoacyl-tRNA synthetases (aaRSs). This domain consists of a helix-turn-helix structure , which is similar to other RNA-binding ...
    2. NM_002047.4NP_002038.2  glycine--tRNA ligase isoform 1 precursor

      See identical proteins and their annotated locations for NP_002038.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AA464978, AC005154, BC007755, DA386636
      Consensus CDS
      CCDS43564.1
      UniProtKB/Swiss-Prot
      A0A090N8G0, B3KQA2, B4DIA0, P41250, Q969Y1
      UniProtKB/TrEMBL
      A0A6Q8PGZ8
      Related
      ENSP00000373918.3, ENST00000389266.8
      Conserved Domains (1) summary
      PLN02734
      Location:61724
      PLN02734; glycyl-tRNA synthetase

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      30594735..30634033
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      30732340..30771637
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)