FlyBase Allele Report: Hsap\APOL1[G1.UAS.Tag:FLAG]

General Information

Symbol

Hsap\APOL1^{G1.UAS.Tag:FLAG}

Species

H. sapiens

Name

UAS construct a of Fu

FlyBase ID

FBal0342167

Feature type

allele

Associated gene

Hsap\APOL1

Associated Insertion(s)

Carried in Construct

P{UAS-hAPOL1.G1.FLAG}

Also Known As

UAS-APOL1-G1

Key Links

Transgenic product class

missense_variant

(Fu et al., 2017)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Fu et al., 2017)

Mutagen

in vitro construct

(Fu et al., 2017)

Progenitor genotype

Carried in construct

P{UAS-hAPOL1.G1.FLAG}

Cytology

Description

UASt regulates expression of the G1 Hsap\APOL1 allele, which differs from the wild type APOL1-G0 only at S342 and I384, obtained from a cDNA library generated from podocytes cultured from a child with HIV-associated nephropathy. The coding sequence is tagged at the C-terminal end with Tag:FLAG.

(Fu et al., 2017)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\APOL1

Tagged with

Tag:FLAG

epitope tag

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 chronic kidney disease

CEA

(Fu et al., 2017)

model of focal segmental glomerulosclerosis

CEA

(Zhu et al., 2023)

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.

(Fu et al., 2017)

APOL1:p.Ser342Gly APOL1:p.Ile384Met

(FlyBase curators, 2019-)

Variants Synonym(s)

APOL1, SER342GLY, ILE384MET

APOL1:p.Ser324Gly APOL1:p.Ile366Met

APOL1:p.Ser358Gly APOL1:p.Ile400Met

Associated human disease model(s)

focal segmental glomerulosclerosis 4, susceptibility to

External database links

ClinVar: APOL1_6080

Comments concerning this variant

APOL1 double variant associated with increased risk of progressive kidney disease in sub-Saharan African ancestry populations.

Phenotypic Data

Phenotypic Class

abnormal size | adult stage, with Scer\GAL4^Bx-MS1096

(Fu et al., 2017)

decreased cell number | adult stage | progressive, with Scer\GAL4^Ugt36A1.PK

(Zhu et al., 2023)

increased cell size | adult stage | progressive, with Scer\GAL4^Ugt36A1.PK

(Zhu et al., 2023, Fu et al., 2017)

lethal - all die before end of pupal stage, with Scer\GAL4^Tub.PU

(Fu et al., 2017)

majority die during larval stage, with Scer\GAL4^Tub.PU

(Fu et al., 2017)

short lived, with Scer\GAL4^Ugt36A1.PK

(Zhu et al., 2023, Fu et al., 2017)

some die during P-stage, with Scer\GAL4^Tub.PU

(Fu et al., 2017)

viable, with Scer\GAL4^elav.PU

(Fu et al., 2017)

viable, with Scer\GAL4^HCH.Hand

(Fu et al., 2017)

viable, with Scer\GAL4^Hml.PU

(Fu et al., 2017)

visible | adult stage, with Scer\GAL4^Bx-MS1096

(Fu et al., 2017)

visible | adult stage, with Scer\GAL4^Mef2.PR

(Fu et al., 2017)

Phenotype Manifest In

adult pericardial cell | progressive, with Scer\GAL4^Ugt36A1.PK

(Fu et al., 2017)

autophagosome | adult stage | increased number, with Scer\GAL4^Ugt36A1.PK

(Zhu et al., 2023)

endoplasmic reticulum | adult stage, with Scer\GAL4^Ugt36A1.PK

(Zhu et al., 2023)

indirect flight muscle cell, with Scer\GAL4^Mef2.PR

(Fu et al., 2017)

late endosome | adult stage | increased number, with Scer\GAL4^Ugt36A1.PK

(Zhu et al., 2023)

nephrocyte | adult stage, with Scer\GAL4^Ugt36A1.PK

(Zhu et al., 2023)

nephrocyte diaphragm | adult stage, with Scer\GAL4^Ugt36A1.PK

(Zhu et al., 2023)

recycling endosome | adult stage | decreased number, with Scer\GAL4^Ugt36A1.PK

(Zhu et al., 2023)

wing, with Scer\GAL4^Bx-MS1096

(Fu et al., 2017)

wing, with Scer\GAL4^Mef2.PR

(Fu et al., 2017)

wing vein, with Scer\GAL4^Bx-MS1096

(Fu et al., 2017)

wing vein, with Scer\GAL4^vg.PU

(Fu et al., 2017)

Detailed Description

Statement

Reference

Expressing Hsap\APOL1^G1.UAS.cFa under the control of Scer\GAL4^Mef2.PR leads to some individuals showing a 'held-out wing' phenotype and to disorganized and reduced indirect flight muscle fibers; Scer\GAL4^Bx-MS1096-driven expression induces smaller and misshapen wings, plus vein abnormalities; Scer\GAL4^vg.PU-driven expression induces wing vein defects.

Although adult pericardial nephrocytes expressing Hsap\APOL1^G1.UAS.cFa under the control of Scer\GAL4^Ugt36A1.PK start by exhibiting higher uptake function at day 1, there is a progressive decrease in function at days 8 and 15, as compared to controls; despite being of similar sizes to controls at day 1, these nephrocytes progressively increase in size (at days 8 and 15), as compared to controls.

(Fu et al., 2017)

External Data

Linkouts

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

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

Hsap\APOL1^{G1.UAS.Tag:FLAG}

Hsap\APOL1^G1.UAS.cFa

Name Synonyms

UAS construct a of Fu

Secondary FlyBase IDs

References (5)

Report Sections

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