Gene

gars1

ID

ZDB-GENE-030131-9174

Name

glycyl-tRNA synthetase 1

Symbol

gars1 Nomenclature History

Previous Names

gars
mrn (1)
metronome (1)
si:dkey-276i5.1 (1)
wu:fb02f03 (1)

Type

protein_coding_gene

Location

Chr: 24 Mapping Details/Browsers

Description

Predicted to have glycine-tRNA ligase activity. Involved in translation. Predicted to localize to mitochondrion. Used to study Charcot-Marie-Tooth disease type 2. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2D and distal hereditary motor neuronopathy type 5A. Is expressed in several structures, including anterior neural keel; blood island; central nervous system; heart; and segmental plate. Orthologous to human GARS1 (glycyl-tRNA synthetase 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

16 figures from 5 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

IMAGE:7144596 (11 images)
IMAGE:7162501 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 16 figures from 4 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With gars1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal dominant distal hereditary motor neuronopathy 5	Alliance	Neuronopathy, distal hereditary motor, autosomal dominant 5	600794
Charcot-Marie-Tooth disease type 2D	Alliance	Charcot-Marie-Tooth disease, type 2D	601472
		Spinal muscular atrophy, infantile, James type	619042

Associated With gars1 Via Experimental Models

Human Disease	Fish	Conditions	Citations
Charcot-Marie-Tooth disease type 2	gars1^s266/s266	standard conditions	Malissovas et al., 2016

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000738	WHEP-TRS domain
Domain	IPR002314	Aminoacyl-tRNA synthetase, class II (G/ P/ S/T)
Domain	IPR004154	Anticodon-binding
Domain	IPR006195	Aminoacyl-tRNA synthetase, class II
Domain	IPR033731	Glycyl-tRNA synthetase-like core domain
Family	IPR002315	Glycyl-tRNA synthetase
Family	IPR027031	Glycyl-tRNA synthetase/DNA polymerase subunit gamma-2
Homologous_superfamily	IPR009068	uS15/NS1, RNA-binding domain superfamily
Homologous_superfamily	IPR036621	Anticodon-binding domain superfamily
Homologous_superfamily	IPR045864	Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL)