FB2024_03 , released June 25, 2024
Allele: Hsap\GBA1N370S.UAS.Tag:MYC,Tag:polyHis
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General Information
Symbol
Hsap\GBA1N370S.UAS.Tag:MYC,Tag:polyHis
Species
H. sapiens
Name
FlyBase ID
FBal0291782
Feature type
allele
Associated gene
Hsap\GBA1
Associated Insertion(s)
Carried in Construct
P{UAS-hGBA.N370S.mycHis}
Also Known As
pUASTmycHisN370SGCase, UAS-mycHisN370SGCase
Key Links
Transgenic product class
missense_variant
(Maor et al., 2013)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Maor et al., 2013)
Mutagen
in vitro construct
(Maor et al., 2013)
Progenitor genotype
Carried in construct
P{UAS-hGBA.N370S.mycHis}
Cytology
Description

UASt regulates expression of Hsap\GBA with a N370S substitution (the most prevalent mutation among type 1 Gaucher disease patients) tagged with Tag:MYC and Tag:polyHis.

(Maor et al., 2013)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\GBA1
Tagged with
Tag:MYC
Tag:polyHis
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  Gaucher's disease
      CEA with Gba1aMB02296
      (Maor et al., 2013)
      model of  Parkinson's disease
      CEA
      (Maor et al., 2016)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      Disease model based on activation of unfolded protein response.

      (Maor et al., 2013)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Maor et al., 2013)
      GBA1:p.Asn409Ser
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      GBA:p.Asn322Ser
      GBA:p.Asn360Ser
      GBA:p.Asn370Ser
      GBA:p.Asn409Ser
      GBA1:p.Asn322Ser
      GBA1:p.Asn360Ser
      GBA1:p.Asn370Se
      Associated human disease model(s)
      External database links
      ClinVar: GBA_4290
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      The expression of Hsap\GBAN370S.UAS.Tag:MYC,Tag:polyHis under the control of Scer\GAL4Ddc.PL leads to a progressive decrease in the number of adult dopaminergic neurons (total neurons and PPL1, PPM1/2 and PPM3 cluster neurons), as it is observed at day 22, but not at days 2 and 12, post eclosion, as compared to controls.

      (Maor et al., 2016)

      Scer\GAL4da.G32-mediated expression of Hsap\GBAN370S.Scer\UAS.T:Hsap\MYC,T:Zzzz\His6 results in significantly decreased survival from L3 larva to pupa and again from pupa to adult, compared to expression of Hsap\GBAScer\UAS.T:Hsap\MYC,T:Zzzz\His6.

      Scer\GAL4Ddc.PL-mediated expression of Hsap\GBAN370S.Scer\UAS.T:Hsap\MYC,T:Zzzz\His6 results in significant locomotion dysfunction (measured in a climbing assay) at 22 days of age, compared to expression of Hsap\GBAScer\UAS.T:Hsap\MYC,T:Zzzz\His6.

      (Maor et al., 2013)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (3)
      Reported As
      Symbol Synonym
      Hsap\GBA1N370S.UAS.Tag:MYC,Tag:polyHis
      Hsap\GBAN370S.Scer\UAS.T:Hsap\MYC,T:Zzzz\His6
      Hsap\GBAN370S.UAS.Tag:MYC,Tag:polyHis
      Name Synonyms
      Secondary FlyBase IDs
        References (4)