FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\GorabV266P.Ubq.N-GFP
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General Information
Symbol
Dmel\GorabV266P.Ubq.N-GFP
Species
D. melanogaster
Name
FlyBase ID
FBal0341806
Feature type
allele
Associated gene
Dmel\Gorab
Associated Insertion(s)
Carried in Construct
P{Ubq-GFP.Gorab.V266P}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Kovacs et al., 2018)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Kovacs et al., 2018)
Mutagen
in vitro construct
(Kovacs et al., 2018)
Progenitor genotype
Carried in construct
P{Ubq-GFP.Gorab.V266P}
Cytology
Description

A polyubiquitin promoter regulates expression of Gorab containing a Val266Pro mutation, equivalent to the p.Ala220Pro mutation with the Golgi-targeting domain in human GORAB, which occurs in gerodermia osteodysplastica patients and is sufficient to disrupt Golgi localization. There is an N-terminal GFP tag.

(Kovacs et al., 2018)
Allele components
Component
Use(s)
Regulatory region(s)
Ubi-p63E
Encoded product / tool
Gorab
Tagged with
GFP
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3L:17,427,865..17,427,866 [-]
Nucleotide change:

GT17427866CC

Amino acid change:

V266P | Gorab-PA

Reported amino acid change:

V266P

Comment:

Analogous A220P mutation in human GORAB implicated in geroderma osteodysplastica; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Kovacs et al., 2018)
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 ( 0 )
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Kovacs et al., 2018)
      GORAB:p.Ala245Pro
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      GORAB:p.Ala65Pro
      GORAB:p.Ala220Pro
      Associated human disease model(s)
      External database links
      ClinVar: GORAB_218115
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      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
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      GorabV266P.Ubq.N-GFP
      Name Synonyms
      Secondary FlyBase IDs
        References (2)