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Gene

GARS1

glycyl-tRNA synthetase 1

Summary

Cytogenetic location
7p14.3
Coordinates
Chromosome 7: 30,594,878–30,634,033 (GRCh38)
Exons
17 exons across 39.2 kb
Protein
739 amino acids
Also known as
GlyRS, DSMAV, SMAD1
Previous symbols
CMT2D, GARS
MANE Select transcript
ENST00000389266.8NM_002047.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Charcot-Marie-Tooth Disease

    • Distal Hereditary Motor Neuropathy

      Inherited neuropathies that mainly affect motor nerves, causing weakness and wasting of the hands and feet, including SORD-related neuropathy.

      • 3 GenCC submitters rate it definitive or strong

    • One of 62 genes linked to it

      A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

  • Spinal Muscular Atrophy

    • A group of disorders characterised by degeneration of spinal cord anterior horn cells, leading to progressive muscle weakness and atrophy.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Gene therapy (onasemnogene abeparvovec), antisense oligonucleotide therapy (nusinersen), oral splicing modifier (risdiplam), supportive care

How GARS1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where GARS1 sits. GARS1 and 15 genes near it on chromosome 7, from 30,114,456 to 31,114,455.Chromosome 77p14.3p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.330.2 Mb30.4 Mb30.6 Mb30.8 Mb31 MbPLEKHA8: 30,027,404–30,130,483, forward strandPLEKHA8MTURN: 30,134,728–30,162,765, forward strandMTURNZNRF2: 30,284,413–30,371,239, forward strandZNRF2: 30,362,400–30,412,502, forward strandNOD1: 30,424,527–30,478,914, reverse strandNOD1GGCT: 30,496,616–30,504,866, reverse strandGGCT: 30,497,077–30,550,761, reverse strandGARS1: 30,594,878–30,634,033, forward strandGARS1CRHR2: 30,651,444–30,700,129, reverse strandCRHR2INMT: 30,697,985–30,770,621, forward strandINMTINMT-MINDY4: 30,752,137–30,892,081, forward strandINMT-MINDY4MINDY4: 30,771,388–30,892,387, forward strandMINDY4: 30,852,273–30,923,812, forward strandAQP1: 30,910,755–30,925,517, forward strandAQP1GHRHR: 30,938,669–30,993,254, forward strandGHRHRADCYAP1R1: 31,052,297–31,117,204, forward strandADCYAP1R1Diagram of GARS1: 17 exons on the forward strand of chromosome 7Exon 5: 3 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 8: 10 known disease-causing sitesExon 9: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 14: 3 known disease-causing sitesExon 1: 30,594,878–30,595,143, 266 basesExon 2: 30,598,796–30,598,897, 102 basesExon 3: 30,599,947–30,600,049, 103 basesExon 4: 30,601,059–30,601,200, 142 basesExon 5: 30,603,034–30,603,122, 89 basesExon 6: 30,603,496–30,603,572, 77 basesExon 7: 30,609,585–30,609,730, 146 basesExon 8: 30,612,096–30,612,245, 150 basesExon 9: 30,615,896–30,616,058, 163 basesExon 10: 30,617,114–30,617,278, 165 basesExon 11: 30,621,393–30,621,500, 108 basesExon 12: 30,622,317–30,622,462, 146 basesExon 13: 30,626,234–30,626,319, 86 basesExon 14: 30,628,560–30,628,669, 110 basesExon 15: 30,631,448–30,631,541, 94 basesExon 16: 30,632,247–30,632,437, 191 basesExon 17: 30,633,735–30,634,033, 299 bases1246810121416175′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.4 kb of the gene's 39.2 kb; 2,220 of those bases code for the protein.

How a genome test reads GARS1

22

positions in GARS1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 39.2 kb of GARS1, introns included, not only the 2.4 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). GARS1 gene: glycyl-tRNA synthetase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/gars1

Vancouver

Dante Labs. GARS1 gene: glycyl-tRNA synthetase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gars1

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