FB2024_03 , released June 25, 2024
Allele: Hsap\PROM1R373C.UAS
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General Information
Symbol
Hsap\PROM1R373C.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0279600
Feature type
allele
Associated gene
Hsap\PROM1
Associated Insertion(s)
Carried in Construct
P{UAS-hProm1.R373C}
Key Links
Transgenic product class
Mutagen
Nature of the Allele
Transgenic product class
Mutagen
in vitro construct
(Nie et al., 2012)
Progenitor genotype
Carried in construct
P{UAS-hProm1.R373C}
Cytology
Description

Amino acid replacement: R373C.

(Nie et al., 2012)

UASt regulatory sequences drive expression of mutated Hsap\PROM1 coding sequences.

(Nie et al., 2012)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\PROM1
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  macular degeneration
      CEA
      (Nie et al., 2012)
      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.
      (Nie et al., 2012)
      PROM1:p.Arg373Cys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      PROM1:p.Arg364Cys
      Associated human disease model(s)
      External database links
      ClinVar: PROM1_5610
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Hsap\PROM1R373C.Scer\UAS in the developing eye, under the control of Scer\GAL4GMR.PF results in the disruption of the organization of the F-actin within the developing rhabdomeres by 84 hours after pupal formation.

      (Nie et al., 2012)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      NOT Suppressor of
      Statement
      Reference

      Hsap\PROM1R373C.UAS/Scer\GAL4GMR.PF is a non-suppressor of rhabdomere phenotype of prom1

      (Nie et al., 2012)

      Hsap\PROM1R373C.UAS/Scer\GAL4GMR.PF is a non-suppressor of eye phenotype of prom1

      (Nie et al., 2012)
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      Expression of Hsap\PROM1R373C.Scer\UAS in the developing eye, under the control of Scer\GAL4GMR.PF, is not sufficient to suppress the rhabdomere phenotype in prom1 mutants.

      (Nie et al., 2012)
      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 (2)
      Reported As
      Symbol Synonym
      Hsap\PROM1R373C.Scer\UAS
      Hsap\PROM1R373C.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)