Gars1 MGI Mouse Gene Detail - MGI:2449057

Symbol

Gars1
Name

glycyl-tRNA synthetase 1
Synonyms

Gars, Gena201, GENA202, Sgrp23

Feature Type

protein coding gene
IDs

MGI:2449057
NCBI Gene: 353172
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr6:55014992-55056485 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 27.29 cM
Mapping Data

2 experiments

SNPs within 2kb

1214 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2449057	protein coding gene	Chr6:55014986-55056489 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0030768	protein coding gene	Chr6:54435280-54477383 (+)
A/J	MGP_AJ_G0030737	protein coding gene	Chr6:51901643-51942473 (+)
AKR/J	MGP_AKRJ_G0030664	protein coding gene	Chr6:53668319-53709282 (+)
BALB/cJ	MGP_BALBcJ_G0030749	protein coding gene	Chr6:52271888-52313228 (+)
C3H/HeJ	MGP_C3HHeJ_G0030462	protein coding gene	Chr6:53689499-53732479 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0031204	protein coding gene	Chr6:55645249-55691915 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028410	protein coding gene	Chr6:49512442-49555157 (+)
CAST/EiJ	MGP_CASTEiJ_G0029865	protein coding gene	Chr6:53547150-53589628 (+)
CBA/J	MGP_CBAJ_G0030436	protein coding gene	Chr6:57948924-57995251 (+)
DBA/2J	MGP_DBA2J_G0030586	protein coding gene	Chr6:51803033-51844086 (+)
FVB/NJ	MGP_FVBNJ_G0030538	protein coding gene	Chr6:51395567-51437411 (+)
LP/J	MGP_LPJ_G0030671	protein coding gene	Chr6:54369892-54412396 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030572	protein coding gene	Chr6:60451514-60497047 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031234	protein coding gene	Chr6:53635087-53676177 (+)
PWK/PhJ	MGP_PWKPhJ_G0029578	protein coding gene	Chr6:51467009-51508368 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029412	protein coding gene	Chr6:53007899-53048987 (+)
WSB/EiJ	MGP_WSBEiJ_G0029942	protein coding gene	Chr6:53659079-53702555 (+)

Human Ortholog

GARS1, glycyl-tRNA synthetase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GARS1, glycyl-tRNA synthetase 1
Synonyms

CMT2D, DSMAV, GARS, GlyRS, HMN5, HMN5A, HMND5, SMAD1, SMAJI
Links

HGNC:4162

NCBI Gene ID: 2617

neXtProt AC: NX_P41250

UniProt: P41250
Chr Location

7p14.3; chr7:30580533-30634033 (+) GRCh38

MGI Vertebrate Homology

Gars1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: GARS1
Gene Tree

Gars1

Diseases

1 with Gars1 mouse models; 2 with human GARS1 associations

Human Disease

Mouse Models

Charcot-Marie-Tooth disease type 2D

IDs

View 4 models

autosomal dominant distal hereditary motor neuronopathy 5

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

4 with disease annotations

References

4 with disease annotations

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Phenotype Summary

50 phenotypes from 6 alleles in 10 genetic backgrounds
14 phenotypes from multigenic genotypes
36 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

23
Chemically induced (ENU)

1
Endonuclease-mediated

9
Gene trapped

10
Spontaneous

1
Targeted

2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

42 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

A dominant mutation results in sensory and motor axon degeneration in affected mice, with defects in synaptic transmission, nerve conduction and premature death. A loss of function mutation results in embryonic lethality in homozygous mice, and no discernible phenotype in heterozygous mice.

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All GO Annotations

29
GO References

12

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

810
Tissues

99
cDNA Data

195
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase gars1

ZFIN gars1

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All Sequences

72
RefSeq

2
UniProt

1
CCDS

CCDS39492.1

Ensembl

ENSMUSG00000029777 (Evidence)
NCBI Gene

353172

			Length	Strain/Species	Flank
genomic	ENSMUSG00000029777	Ensembl Gene Model \| MGI Sequence Detail	41494	C57BL/6J	± kb
transcript	ENSMUST00000003572	Ensembl \| MGI Sequence Detail	2380	Not Applicable
polypeptide	ENSMUSP00000003572	Ensembl \| MGI Sequence Detail	729	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000007846 glycine--tRNA ligase

(term hierarchy)
EC

2.7.7.-, 6.1.1.14
InterPro Domains

IPR006195 Aminoacyl-tRNA synthetase, class II

IPR002314 Aminoacyl-tRNA synthetase, class II (G/ P/ S/T)

IPR004154 Anticodon-binding

IPR036621 Anticodon-binding domain superfamily

IPR045864 Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL)

IPR002315 Glycyl-tRNA synthetase

IPR027031 Glycyl-tRNA synthetase/DNA polymerase subunit gamma-2

IPR033731 Glycyl-tRNA synthetase-like core domain

IPR009068 uS15/NS1, RNA-binding domain superfamily

IPR000738 WHEP-TRS domain
GlyGen

Q9CZD3 1 site, 1 O-linked glycan (1 site)

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All nucleic 197

cDNA 195

Primer pair 2

Microarray probesets 4

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MGD-MRK-38321, MGI:109276, MGI:3513829, MGI:3686757, MGI:7525416

Summaries

All 67

Developmental Gene Expression 4

Diseases 4

Gene Ontology 12

Phenotypes 36
Earliest

J:36876 Lang IM, et al., Purification of storage granule protein-23. A novel protein identified by phage display technology and interaction with type I plasminogen activator inhibitor. J Biol Chem. 1996 Nov 22;271(47):30126-35
Latest

J:352109 Tadenev ALD, et al., Lack of effect from genetic deletion of Hdac6 in a humanized mouse model of CMT2D. J Peripher Nerv Syst. 2024 Jun;29(2):213-220

TSS for Gars1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr56648	Chr6:55014940-55014965 (+)	-39 bp
Tssr56649	Chr6:55014973-55015076 (+)	33 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24