FlyBase Allele Report: Hsap\UQCRC1[Y314S.UAS.Tag:V5]

FB2026_01 , released March 12, 2026

FB2026_01 , released March 12, 2026

Allele: Hsap\UQCRC1^{Y314S.UAS.Tag:V5}

General Information

Symbol

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}

Species

H. sapiens

Name

FlyBase ID

FBal0365998

Feature type

allele

Associated gene

Associated Insertion(s)

Carried in Construct

P{UAS-hUQCRC1.Y314S.V5}

Key Links

Transgenic product class

missense_variant

(Lin et al., 2020)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Lin et al., 2020)

Mutagen

in vitro construct

(Lin et al., 2020)

Progenitor genotype

Carried in construct

P{UAS-hUQCRC1.Y314S.V5}

Cytology

Description

UASt regulatory sequences drive expression of a mutated Hsap\UQCRC1 cDNA, carrying a Y314S amino acid substitution (a variant found to be cosegregating in a family with a late-onset autosomal-dominant parkinsonism and polyneuropathy). The coding sequence is tagged at the C-terminal end with Tag:V5.

(Lin et al., 2020)

Allele components

Component

Use(s)

Regulatory region(s)

binary expression system - regulatory region

Encoded product / tool

Tagged with

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

CEA

(Hung et al., 2021, Lin et al., 2020)

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.

(Lin et al., 2020)

UQCRC1:p.Tyr314Ser

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

parkinsonism with polyneuropathy

External database links

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

External Data

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Other

Statement

Reference

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has short lived phenotype

(Lin et al., 2020)

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has abnormal neuroanatomy | third instar larval stage phenotype

(Lin et al., 2020)

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has abnormal jumping | progressive phenotype

(Lin et al., 2020)

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has abnormal neuroanatomy | adult stage phenotype

(Lin et al., 2020)

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has abnormal size | third instar larval stage phenotype

(Lin et al., 2020)

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has decreased cell number | adult stage phenotype

(Lin et al., 2020)

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has abnormal locomotor behavior | adult stage | progressive phenotype

(Lin et al., 2020)

Phenotype Manifest In

Other

Statement

Reference

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has dopaminergic PPL1 neuron | decreased number phenotype

(Lin et al., 2020)

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has dopaminergic PPM1 neuron | decreased number phenotype

(Lin et al., 2020)

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has embryonic/larval neuromuscular junction | third instar larval stage phenotype

(Lin et al., 2020)

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has T-bar | third instar larval stage phenotype

(Lin et al., 2020)

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has NMJ bouton | third instar larval stage | decreased number phenotype

(Lin et al., 2020)

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}, Scer\GAL4^Act.PU, UQCR-C1^null/UQCR-C1[+] has dopaminergic PPM2 neuron | decreased number phenotype

(Lin et al., 2020)

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 (1)

Reported As

Symbol Synonym

Hsap\UQCRC1^{Y314S.UAS.Tag:V5}

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections