FlyBase Allele Report: Hsap\UBA5[K310E.UAS.Tag:HA]

General Information

Symbol

Hsap\UBA5^{K310E.UAS.Tag:HA}

Species

H. sapiens

Name

FlyBase ID

FBal0320442

Feature type

allele

Associated gene

Hsap\UBA5

Associated Insertion(s)

Carried in Construct

P{UAS-hUBA5.K310E.HA}

Key Links

Transgenic product class

missense_variant

(Duan et al., 2016)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Duan et al., 2016)

Mutagen

in vitro construct

(Duan et al., 2016)

Progenitor genotype

Carried in construct

P{UAS-hUBA5.K310E.HA}

Cytology

Description

UASt drives expression of Hsap\UBA5 bearing a K310E mutation (a less stable version with reduced enzymatic activity) and tagged with Tag:HA.

(Duan et al., 2016)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\UBA5

Tagged with

Tag:HA

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 ( 0 )

Disease

Evidence

References

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.

(Duan et al., 2016)

UBA5:p.Lys310Glu

(FlyBase curators, 2019-)

Variants Synonym(s)

UBA5:p.Lys198Glu

UBA5:p.Lys220Glu

UBA5:p.Lys254Glu

Associated human disease model(s)

spinocerebellar ataxia, autosomal recessive 24 (postulated)

External database links

ClinVar: UBA5_265757

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Suppressor of

Statement

Reference

Hsap\UBA5^{K310E.UAS.Tag:HA}, Scer\GAL4^da.PU is a non-suppressor of visible phenotype of Scer\GAL4^da.PU, Uba5^HMS01352

(Duan et al., 2016)

Hsap\UBA5^{K310E.UAS.Tag:HA}, Scer\GAL4^da.PU is a non-suppressor of abnormal locomotor behavior | adult stage phenotype of Scer\GAL4^da.PU, Uba5^HMS01352

(Duan et al., 2016)

Hsap\UBA5^{K310E.UAS.Tag:HA}, Scer\GAL4^RapGAP1-OK6 is a non-suppressor of abnormal neuroanatomy | third instar larval stage phenotype of Scer\GAL4^RapGAP1-OK6, Uba5^HMS01352

(Duan et al., 2016)

Phenotype Manifest In

NOT Suppressor of

Statement

Reference

Hsap\UBA5^{K310E.UAS.Tag:HA}, Scer\GAL4^da.PU is a non-suppressor of wing phenotype of Scer\GAL4^da.PU, Uba5^HMS01352

(Duan et al., 2016)

Hsap\UBA5^{K310E.UAS.Tag:HA}, Scer\GAL4^RapGAP1-OK6 is a non-suppressor of type I bouton | third instar larval stage phenotype of Scer\GAL4^RapGAP1-OK6, Uba5^HMS01352

(Duan et al., 2016)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Co-expression of Hsap\UBA5^{K310E.Scer\UAS.T:Ivir\HA1} does not rescue abnormal wing phenotypes and locomotor defects (increased climbing time) in flies (driven by Scer\GAL4^da.PU) or abnormal bouton number and size at the NMJ of larvae (driven by Scer\GAL4^RapGAP1-OK6) with expression of Uba5^HMS01352.

(Duan et al., 2016)

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\UBA5^{K310E.Scer\UAS.T:Ivir\HA1}

Hsap\UBA5^{K310E.UAS.Tag:HA}

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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