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    GARS glycyl-tRNA synthetase [ Homo sapiens (human) ]

    Gene ID: 2617, updated on 14-Aug-2016
    Official Symbol
    GARSprovided by HGNC
    Official Full Name
    glycyl-tRNA synthetaseprovided by HGNC
    Primary source
    HGNC:HGNC:4162
    See related
    Ensembl:ENSG00000106105 HPRD:02617; MIM:600287; Vega:OTTHUMG00000152769
    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
    HMN5; CMT2D; DSMAV; GlyRS; SMAD1
    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]
    Orthologs
    Location:
    7p15
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (30594735..30634033)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (30634181..30673649)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene golgin A8 family member A pseudogene Neighboring gene uncharacterized LOC401320 Neighboring gene corticotropin releasing hormone receptor 2 Neighboring gene uncharacterized LOC105375220 Neighboring gene uncharacterized LOC105375219

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glycine-tRNA ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glycine-tRNA ligase activity TAS
    Traceable Author Statement
    more info
     
    protein dimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    diadenosine tetraphosphate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glycyl-tRNA aminoacylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    tRNA aminoacylation for protein translation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    secretory granule IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    glycine--tRNA ligase
    Names
    AP-4-A synthetase
    Charcot-Marie-Tooth neuropathy 2D
    Charcot-Marie-Tooth neuropathy, neuronal type, D
    diadenosine tetraphosphate synthetase
    glycine tRNA ligase
    NP_001303701.1
    NP_002038.2

    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/Swiss-Prot
      P41250
      UniProtKB/TrEMBL
      A0A090N8G0
      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_002047.3NP_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
      P41250
      Related
      ENSP00000373918, OTTHUMP00000202329, ENST00000389266, OTTHUMT00000327735
      Conserved Domains (4) summary
      PLN02734
      Location:61724
      PLN02734; glycyl-tRNA synthetase
      cd00774
      Location:124470
      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:588711
      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:64114
      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 ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_006715686.2XP_006715749.1  

      Conserved Domains (3) summary
      COG0423
      Location:2594
      GRS1; Glycyl-tRNA synthetase (class II) [Translation, ribosomal structure and biogenesis]
      cd00774
      Location:1347
      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:465588
      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 ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      30634608..30673905
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)