FlyBase Allele Report: Hsap\PQBP1[dupAG.UAS.Tag:FLAG]

General Information

Symbol

Hsap\PQBP1^{dupAG.UAS.Tag:FLAG}

Species

H. sapiens

Name

FlyBase ID

FBal0326602

Feature type

allele

Associated gene

Hsap\PQBP1

Associated Insertion(s)

Carried in Construct

PBac{UAS-hPQBP1.Flag.dupAG}

Key Links

Transgenic product class

frameshift_truncation

(Zhang et al., 2017)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

frameshift_truncation

(Zhang et al., 2017)

Mutagen

in vitro construct

(Zhang et al., 2017)

Progenitor genotype

Carried in construct

PBac{UAS-hPQBP1.Flag.dupAG}

Cytology

Description

UASt regulatory sequences drive expression of Hsap\PQBP1 carrying a mutation that has been identified in patients with Renpenning syndrome. Nucleotides 643-464 (AG) in exon 4 are duplicated, resulting in a frameshift from amino acid residue 153 and a truncated protein of 194 residues. The protein is tagged at the N-terminal end with Tag:FLAG.

(Zhang et al., 2017)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\PQBP1

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 Renpenning syndrome

CEA

(Zhang et al., 2017)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Renpenning syndrome

is ameliorated by Fmr1^UAS.cUa

(Zhang et al., 2017)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Zhang et al., 2017)

PQBP1:p.Arg155fs

(FlyBase curators, 2019-)

Variants Synonym(s)

PQBP1:p.Arg155Serfs

PQBP1:p.Arg155, frameshift

Associated human disease model(s)

Renpenning syndrome 1

External database links

ClinVar: PQBP1_10979

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy | adult stage, with Scer\GAL4^Pdf.PU

(Zhang et al., 2017)

abnormal neuroanatomy | third instar larval stage, with Scer\GAL4^RapGAP1-OK6

(Zhang et al., 2017)

Phenotype Manifest In

adult s-LNv neuron | adult stage, with Scer\GAL4^Pdf.PU

(Zhang et al., 2017)

l-LNv neuron | adult stage, with Scer\GAL4^Pdf.PU

(Zhang et al., 2017)

neuromuscular junction | third instar larval stage, with Scer\GAL4^RapGAP1-OK6

(Zhang et al., 2017)

terminal bouton | third instar larval stage, with Scer\GAL4^RapGAP1-OK6

(Zhang et al., 2017)

Detailed Description

Statement

Reference

The expression of Hsap\PQBP1^{dupAG.Scer\UAS.T:Zzzz\FLAG} under the control of Scer\GAL4^RapGAP1-OK6 leads to a significant increase in the proportion of satellite boutons, but to no obvious differences in the number of dendrite branches and in the number of boutons, at the third instar larval muscle 4 neuromuscular junction, as compared to control. Scer\GAL4^Pdf.PU-driven expression leads to significant ectopic branching of small LNv neurons and to significant defasiculation of the posterior optic tract from large LNv cells, as compared to controls.

(Zhang et al., 2017)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\PQBP1^{dupAG.UAS.Tag:FLAG}, Scer\GAL4^RapGAP1-OK6 has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by Fmr1^UAS.cUa, Scer\GAL4^RapGAP1-OK6

(Zhang et al., 2017)

Phenotype Manifest In

Suppressed by

Statement

Reference

Hsap\PQBP1^{dupAG.UAS.Tag:FLAG} has neuromuscular junction | third instar larval stage phenotype, suppressible by Scer\GAL4^RapGAP1-OK6/Fmr1^UAS.cUa

(Zhang et al., 2017)

Hsap\PQBP1^{dupAG.UAS.Tag:FLAG} has terminal bouton | third instar larval stage phenotype, suppressible by Scer\GAL4^RapGAP1-OK6/Fmr1^UAS.cUa

(Zhang et al., 2017)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The increased proportion of satellite boutons at the third instar larval muscle 4 neuromuscular junction resulting from the expression of Hsap\PQBP1^{dupAG.Scer\UAS.T:Zzzz\FLAG} under the control of Scer\GAL4^RapGAP1-OK6 is suppressed by the co-expression of Fmr1^Scer\UAS.cUa.

(Zhang et al., 2017)

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\PQBP1^{dupAG.Scer\UAS.T:Zzzz\FLAG}

Hsap\PQBP1^{dupAG.UAS.Tag:FLAG}

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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