FlyBase Allele Report: Hsap\ZNF746[DM.UAS]

General Information

Symbol

Hsap\ZNF746^DM.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0357245

Feature type

allele

Associated gene

Hsap\ZNF746

Associated Insertion(s)

Carried in Construct

P{UAS-hZNF746.DM}

Key Links

Transgenic product class

missense_variant

(Dawson, 2019.12.17)

polypeptide_post_translational_processing_variant

(Dawson, 2019.12.17)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Dawson, 2019.12.17)

polypeptide_post_translational_processing_variant

(Dawson, 2019.12.17)

Mutagen

in vitro construct

(Dawson, 2019.12.17)

Progenitor genotype

Carried in construct

P{UAS-hZNF746.DM}

Cytology

Description

UASt regulates expression of a Hsap\ZNF746 cDNA in which serine residues 322 and 613 are mutated to alanine (double mutant, or 'DM'), thus preventing its phosphorylation and resulting in accumulation of toxic levels of Hsap\ZNF746.

(Dawson, 2019.12.17)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\ZNF746

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 late onset Parkinson's disease

CEC

(Pirooznia et al., 2020)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of late onset Parkinson's disease

is ameliorated by Hsap\PRKN^WT.UAS

(Pirooznia et al., 2020)

is ameliorated by Pink1^UAS.Tag:HA

(Pirooznia et al., 2020)

is ameliorated by park^UAS.cGa

(Pirooznia et al., 2020)

exacerbates Parkinson's disease 2

modeled by park²⁵

(Pirooznia et al., 2020)

exacerbates Parkinson's disease 6

modeled by Pink1^B9

(Pirooznia et al., 2020)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | adult stage, with Scer\GAL4^ple.PF

(Pirooznia et al., 2020)

abnormal neuroanatomy | adult stage, with Scer\GAL4^ple.PF

(Pirooznia et al., 2020)

decreased cell number | adult stage, with Scer\GAL4^ple.PF

(Pirooznia et al., 2020)

Phenotype Manifest In

dopaminergic neuron | adult stage | decreased number, with Scer\GAL4^ple.PF

(Pirooznia et al., 2020)

Detailed Description

Statement

Reference

Adults expressing Hsap\ZNF746^DM.UAS under the control of Scer\GAL4^ple.PF show a decline in climbing activity, and a decrease in DA neuron number (PPL1, PPL2, PPM1/2 and PPM3 clusters).

(Pirooznia et al., 2020)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT suppressed by

Statement

Reference

Hsap\ZNF746^DM.UAS, Scer\GAL4^ple.PF has abnormal neuroanatomy | adult stage phenotype, non-suppressible by Pink1^UAS.cCa, Scer\GAL4^ple.PF

(Pirooznia et al., 2020)

Hsap\ZNF746^DM.UAS, Scer\GAL4^ple.PF has abnormal neuroanatomy | adult stage phenotype, non-suppressible by park^UAS.cGa, Scer\GAL4^ple.PF