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

Gene ID: 2617, updated on 5-Aug-2018

Summary

Official Symbol
GARSprovided by HGNC
Official Full Name
glycyl-tRNA synthetaseprovided by HGNC
Primary source
HGNC:HGNC:4162
See related
Ensembl:ENSG00000106105 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]
Expression
Ubiquitous expression in thyroid (RPKM 31.7), testis (RPKM 29.9) and 25 other tissues See more
Orthologs

Genomic context

See GARS in Genome Data Viewer
Location:
7p14.3
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 GARS divergent transcript Neighboring gene corticotropin releasing hormone receptor 2 Neighboring gene uncharacterized LOC105375220 Neighboring gene uncharacterized LOC105375219

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycine-tRNA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
glycine-tRNA ligase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
glycine-tRNA ligase activity TAS
Traceable Author Statement
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
PubMed 
mitochondrial glycyl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA aminoacylation for protein translation IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
diadenosine tetraphosphate synthetase
NP_001303701.1
NP_002038.2
XP_006715749.1

NCBI Reference Sequences (RefSeq)

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
    ENSP00000373918.3, OTTHUMP00000202329, ENST00000389266.7, 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006715686.2XP_006715749.1  glycine--tRNA ligase isoform X1

    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 ...
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