InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GARS

Summary

InnateDB Protein

IDBP-11155.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GARS

Protein Name

glycyl-tRNA synthetase

Synonyms

CMT2D; DSMAV; GlyRS; HMN5; SMAD1;

Species

Homo sapiens

Ensembl Protein

ENSP00000373918

InnateDB Gene

IDBG-11151 (GARS)

Protein Structure

UniProt Annotation

Function

Catalyzes the attachment of glycine to tRNA(Gly). Is also able produce diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs. {ECO:0000269PubMed:19710017}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:9524218}. Mitochondrion {ECO:0000269PubMed:9524218}.

Disease Associations

Charcot-Marie-Tooth disease 2D (CMT2D) [MIM:601472]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269PubMed:12690580}. Note=The disease is caused by mutations affecting the gene represented in this entry.Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794]: A disorder characterized by distal muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. {ECO:0000269PubMed:12690580}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed, including brain and spinal cord. {ECO:0000269PubMed:12690580}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 62 experimentally validated interaction(s) in this database.

Experimentally validated
Total	62 [view]
Protein-Protein	60 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0004812	aminoacyl-tRNA ligase activity
GO:0004820	glycine-tRNA ligase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0046983	protein dimerization activity

Biological Process

GO:0006418	tRNA aminoacylation for protein translation
GO:0006426	glycyl-tRNA aminoacylation
GO:0008219	cell death
GO:0010467	gene expression
GO:0015966	diadenosine tetraphosphate biosynthetic process

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005759	mitochondrial matrix
GO:0005829	cytosol
GO:0030141	secretory granule
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000738 WHEP-TRS
IPR002314 Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain
IPR002315 Glycyl-tRNA synthetase
IPR004154 Anticodon-binding
IPR006195 Aminoacyl-tRNA synthetase, class II
IPR009068 S15/NS1, RNA-binding

PFAM

PF00458
PF00587
PF03129

PRINTS

PR01043

PIRSF

SMART

SM00991

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt