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General Information
Symbol
Dmel\Ubqn1
Species
D. melanogaster
Name
FlyBase ID
FBal0346662
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

C19684728T

Amino acid change:

Q129term | Ubqn-PA; Q129term | Ubqn-PB

Reported amino acid change:

Q129term

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase curator based on reported amino acid change.

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference

Amino acid replacement: Q129term.

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
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
 

Flybase curator comment: Amyotrophic lateral sclerosis subtype amyotrophic lateral sclerosis 15 is associated with gene UBQLN2.

Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

The few Ubqn1 germline clone eggs laid by otherwise Ubqn1 heterozygous females show morphological defects, including defective dorsal appendages, and do not develop.

Ubqn1 pre-pupae show severely reduced neuropil, head malformation and loss of head fat body, incomplete limb eversion, and impaired midgut histolysis.

Whole-eye Ubqn1 clones in adults raised in 12h:12h dark:light cycles show a significant and progressive decrease in electroretinogram amplitudes at days 15 and 45. They show progressive retina defects at days 15 and 30, but not at day 1; these include vacuolization, degeneration and loss of photoreceptors, glial death, split rhabdomeres and loss of rhabdomeres, electron dense aggregates, and mitochondria accumulation; at day 30 there is also an enlargement of synaptic terminals in the lamina. Individuals reared under constant darkness still show decreased electroretinogram amplitudes at day 45 and loss of photoreceptors at day 30. Transmission electron microscopy reveals that Ubqn1 clonal retina exhibit a significant increase in rough ER density in 1-day old adults, and a significant increase in autophagosomes, autolysosomes/amphisomes, as well as an accumulation of abnormal lysosomes, in 15-days old adults.

Ubqn1 clones in the larval fat body show abnormal lysosomes as compared to controls, namely a prominent increase in the number of Lamp1-GFP positive compartments despite of unaffected Lysotracker staining (marker of acidic lysosomes) at the second instar, aberrant/clustered Lamp1-GFP positive compartments and significantly decreased Lysotracker staining at the third instar, and a severe decrease in Lysotracker staining at the wandering third instar; at the third instar, Lysotracker and Lamp1-GFP puncta do not colocalize, indicating that most lysosomes are not acidified.

Ubqn1 clones in the third instar larval fat body also show abnormal autophagic flux compared, as compared to controls; there is a significant increase in autophagic vesicles (using mCherry-Atg8 or GFP-Atg8 reporters) and a significant increase in autophagosomes and non-acidic autolysosomes (using a GFP-mCherry-Atg8 reporter); there is also a significant decrease in acidic lysosomes and autolysosomes under both fed and starved conditions.

Ubqn1 clones in the third instar larval salivary gland show aberrant morphology and accumulation of endoplasmic reticulum (sqh-EYFP-ER marker).

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Phenotype Manifest In
Suppressed by
NOT suppressed by
Statement
Reference
Additional Comments
Genetic Interactions
Statement
Reference

Ubqn1 clones in the third instar larval salivary gland show aberrant morphology and accumulation of endoplasmic reticulum (sqh-EYFP-ER marker), which are not suppressed by Vha100-13 heterozygosity.

Ubqn1 clones in the third instar larval fat body show a severely decreased Lysotracker staining (marker of acidic lysosomes), which is significantly suppressed by Vha100-13 or ATP6AP25-HA-1890 heterozygosity.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Partially rescued by

Ubqn1 is partially rescued by UbqnfTRG.GFP

Comments
Images (0)
Mutant
Wild-type
Stocks (2)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (2)
Reported As
Symbol Synonym
Name Synonyms
Secondary FlyBase IDs
    References (1)