FlyBase Allele Report: Hsap\GARS1[G526R.UAS]

General Information

Symbol

Hsap\GARS1^G526R.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0314809

Feature type

allele

Associated gene

Hsap\GARS1

Associated Insertion(s)

Carried in Construct

PBac{UAS-GARS.G526R}

Key Links

Transgenic product class

missense_variant

(Niehues et al., 2015)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Niehues et al., 2015)

Mutagen

in vitro construct

(Niehues et al., 2015)

Progenitor genotype

Carried in construct

PBac{UAS-GARS.G526R}

Cytology

Description

UASt regulates expression of Hsap\GARS cDNA containing a G526R mutation (which is linked to Charcot-Marie-Tooth disease).

(Niehues et al., 2015)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\GARS1

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Expression Data

Reporter Expression

Additional Information

Statement

Reference

Marker for

Reflects expression of

Reporter construct used in assay

Human Disease Associations

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 1 )

Disease

Evidence

References

model of Charcot-Marie-Tooth disease

CEA

(Niehues et al., 2015)

model of Charcot-Marie-Tooth disease type 2D

CEA

(Zhao et al., 2021, Zuko et al., 2021)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Charcot-Marie-Tooth disease type 2D

is ameliorated by Sirt2^JF01397

(Zhao et al., 2021)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Niehues et al., 2015)

GARS1:p.Gly580Arg

(FlyBase curators, 2019-)

Variants Synonym(s)

GARS1:p.Gly526Arg

Associated human disease model(s)

neuronopathy, distal hereditary motor, autosomal dominant 5

External database links

ClinVar: GARS1_9207

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

Scer\GAL4^nSyb.PU-induced lethality is PBac{UAS-GARS.G526R} dosage dependent.

Scer\GAL4^tub.PU-mediated expression from the adult stage onwards (achieved via the GAL80 target system) reduces lifespan in a Scer\UAS-transgene dose-dependent manner.

Scer\GAL4^VGlut-OK371-mediated expression does not affect the number of motor neuron cell bodies in the ventral nerve cord of third instar larvae, but does induce defects in neuromuscular junction (NMJ) morphology, most strikingly the absence of the NMJ innervating muscle 24, in the vast majority of larvae.

Scer\GAL4^VGlut-OK371-mediated expression significantly reduces synapse size on all muscles analyzed (distal muscles 8 and 1/9; and proximal muscles 21 and 4), with the reduction being more pronounced on distal compared to proximal muscles.

Scer\GAL4^ppk.PU-mediated expression induces a significant reduction in class IV multi-dendritic coverage within the larval body wall, while cell body morphology is not altered.

(Niehues et al., 2015)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\GARS1^G526R.UAS, Scer\GAL4^ppk.PG has abnormal neuroanatomy | larval stage phenotype, enhanceable by GlyRS^UAS.Tag:MYC, Scer\GAL4^ppk.PG

(Mora et al., 2025)

NOT Enhanced by