FB2025_01 , released February 20, 2025
Allele: Hsap\ATP5F1DP82L.UAS.Tag:V5
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General Information
Symbol
Hsap\ATP5F1DP82L.UAS.Tag:V5
Species
H. sapiens
Name
FlyBase ID
FBal0342196
Feature type
allele
Associated gene
Hsap\ATP5F1D
Associated Insertion(s)
Carried in Construct
PBac{UAS-hATP5F1D.P82L}
Key Links
Transgenic product class
missense_variant
(Oláhová et al., 2018)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Oláhová et al., 2018)
Mutagen
in vitro construct
(Oláhová et al., 2018)
Progenitor genotype
Carried in construct
PBac{UAS-hATP5F1D.P82L}
Cytology
Description

UASt regulates expression of a Tag:V5-tagged Hsap\ATP5F1D cDNA clone (HsCD00506484, DNASU Plasmid Repository) bearing a p.Pro82Leu variant, which was identified as a homozygous mutation in a subject who presented with episodic lethargy, metabolic acidosis, 3-methylglutaconic aciduria, and hyperammonemia.

(Oláhová et al., 2018)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\ATP5F1D
Tagged with
Tag:V5
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 )
      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.
      (Oláhová et al., 2018)
      ATP5F1D:p.Pro82Leu
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: ATP5F1D_453296
      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

      The co-expression of ATPsynδKK108804 and Hsap\ATP5F1DP82L.UAS.Tag:V5 under the control of Scer\GAL4ey.PU leads to abnormal eye and antenna defects, including small, bar and glossy eye phenotypes, and leads to abnormal electroretinograms, namely severe decreases in amplitude, on-transients and off-transients.

      (Oláhová et al., 2018)
      Complementation and Rescue Data
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      Hsap\ATP5F1DP82L.UAS.Tag:V5
      Name Synonyms
      Secondary FlyBase IDs
        References (2)