• Gene id: 2617

Gene Summary

• Gene Symbol: GARS1   Gene   UCSC   Ensembl
• Aliases: CMT2D, DSMAV, GARS, GlyRS, HMN5, SMAD1
• Gene name: glycyl-tRNA synthetase 1
• Alternate names: glycine--tRNA ligase, AP-4-A synthetase, Charcot-Marie-Tooth neuropathy 2D, Charcot-Marie-Tooth neuropathy, neuronal type, D, ap4A synthetase, diadenosine tetraphosphate synthetase,
• Gene location: 7p14.3 (30594734: 30634032)     Exons: 18     NC_000007.14
• Gene summary(Entrez): 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 t
• OMIM: 600287

Protein Summary

• Protein general information: P41250  
  • Name: Glycine tRNA ligase (EC 6.1.1.14) (Diadenosine tetraphosphate synthetase) (Ap4A synthetase) (EC 2.7.7. ) (Glycyl tRNA synthetase) (GlyRS) (Glycyl tRNA synthetase 1)
  • Length: 739  
  • Mass: 83166
  • Tissue specificity: Widely expressed, including in brain and spinal cord. {ECO
• Sequence:

  MPSPRPVLLRGARAALLLLLPPRLLARPSLLLRRSLSAASCPPISLPAAASRSSMDGAGAEEVLAPLRLAVRQQG
  DLVRKLKEDKAPQVDVDKAVAELKARKRVLEAKELALQPKDDIVDRAKMEDTLKRRFFYDQAFAIYGGVSGLYDF
  GPVGCALKNNIIQTWRQHFIQEEQILEIDCTMLTPEPVLKTSGHVDKFADFMVKDVKNGECFRADHLLKAHLQKL
  MSDKKCSVEKKSEMESVLAQLDNYGQQELADLFVNYNVKSPITGNDLSPPVSFNLMFKTFIGPGGNMPGYLRPET
  AQGIFLNFKRLLEFNQGKLPFAAAQIGNSFRNEISPRSGLIRVREFTMAEIEHFVDPSEKDHPKFQNVADLHLYL
  YSAKAQVSGQSARKMRLGDAVEQGVINNTVLGYFIGRIYLYLTKVGISPDKLRFRQHMENEMAHYACDCWDAESK
  TSYGWIEIVGCADRSCYDLSCHARATKVPLVAEKPLKEPKTVNVVQFEPSKGAIGKAYKKDAKLVMEYLAICDEC
  YITEMEMLLNEKGEFTIETEGKTFQLTKDMINVKRFQKTLYVEEVVPNVIEPSFGLGRIMYTVFEHTFHVREGDE
  QRTFFSFPAVVAPFKCSVLPLSQNQEFMPFVKELSEALTRHGVSHKVDDSSGSIGRRYARTDEIGVAFGVTIDFD
  TVNKTPHTATLRDRDSMRQIRAEISELPSIVQDLANGNITWADVEARYPLFEGQETGKKETIEE

• Structural information:
  • Protein Domains: (63..11-)
    (/note="WHEP-TRS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00531"-)
  • Interpro: IPR002314  IPR006195  IPR004154  IPR036621  IPR027031   IPR033731  IPR009068  IPR002315  IPR000738  
  • Prosite: PS50862 PS00762 PS51185
  • CDD: cd00774
  • PDB: 2PME 2PMF 2Q5H 2Q5I 2ZT5 2ZT6 2ZT7 2ZT8 2ZXF 4KQE 4KR2 4KR3 4QEI 5E6M
  • PDBsum: 2PME 2PMF 2Q5H 2Q5I 2ZT5 2ZT6 2ZT7 2ZT8 2ZXF 4KQE 4KR2 4KR3 4QEI 5E6M
  • DIP: 50471
  • STRING: ENSP00000373918
• Other Databases: GeneCards:  GARS1  Malacards:  GARS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070150	mitochondrial glycyl-tRNA aminoacylation	IBA	biological process
GO:0006426	glycyl-tRNA aminoacylation	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0004820	glycine-tRNA ligase activity	IBA	molecular function
GO:0030424	axon	IDA	cellular component
GO:0046983	protein dimerization activity	IDA	molecular function
GO:0046983	protein dimerization activity	IDA	molecular function
GO:0015966	diadenosine tetraphosphate biosynthetic process	IDA	biological process
GO:0004820	glycine-tRNA ligase activity	IDA	molecular function
GO:0004820	glycine-tRNA ligase activity	IDA	molecular function
GO:0004820	glycine-tRNA ligase activity	IDA	molecular function
GO:0004081	bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity	IDA	molecular function
GO:0006418	tRNA aminoacylation for protein translation	IMP	biological process
GO:0070062	extracellular exosome	ISS	cellular component
GO:0004820	glycine-tRNA ligase activity	IMP	molecular function
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0006418	tRNA aminoacylation for protein translation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004820	glycine-tRNA ligase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006426	glycyl-tRNA aminoacylation	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0006412	translation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016874	ligase activity	IEA	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0004820	glycine-tRNA ligase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006418	tRNA aminoacylation for protein translation	TAS	biological process
GO:0006418	tRNA aminoacylation for protein translation	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	IEA	cellular component
GO:0030141	secretory granule	IEA	cellular component
GO:0006426	glycyl-tRNA aminoacylation	IEA	biological process
GO:0004820	glycine-tRNA ligase activity	IEA	molecular function
GO:0030424	axon	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00970	Aminoacyl-tRNA biosynthesis

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Distal hereditary motor neuropathies	KEGG:H00856
Charcot-Marie-Tooth disease	KEGG:H00264
Distal hereditary motor neuropathies	KEGG:H00856
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray