ATP6AP2 ATPase H+ transporting accessory protein 2 [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: ATP6AP2provided by FlyBase
Official Full Name: ATPase H+ transporting accessory protein 2provided by FlyBase
Primary source: FLYBASE:FBgn0037671
Locus tag: Dmel_CG8444
See related: AllianceGenome:FB:FBgn0037671
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Drosophila melanogaster
Lineage: Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as: CG8444; Dmel\CG8444; dPRR; VhaM8-9; vhaM8.9; VhaM8.9; VhaPRR
Summary: Enables frizzled binding activity. Involved in several processes, including establishment of planar polarity; memory; and vacuolar proton-transporting V-type ATPase complex assembly. Located in several cellular components, including Golgi membrane; cell surface; and endoplasmic reticulum membrane. Part of vacuolar proton-transporting V-type ATPase complex. Is expressed in several structures, including anterior endoderm; embryonic/larval midgut primordium; gut section; mesoderm; and organism subdivision. Used to study congenital disorder of glycosylation and syndromic X-linked intellectual disability. Human ortholog(s) of this gene implicated in X-linked parkinsonism-spasticity syndrome; congenital disorder of glycosylation type II; and syndromic X-linked intellectual disability Hedera type. Orthologous to human ATP6AP2 (ATPase H+ transporting accessory protein 2). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: 85D6-85D7; 3-48 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	3R	NT_033777.3 (9260638..9262590)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	3R	NT_033777.2 (5086360..5088312)

Chromosome 3R - NT_033777.3 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results suggest that full-length ATP6AP2 contributes to the assembly of the V-ATPase proton pore and that impairment of this function affects ER homeostasis and PCP signaling.
Title: ATP6AP2 functions as a V-ATPase assembly factor in the endoplasmic reticulum.
the missense mutations in ATP6AP2 lead to impaired V-ATPase assembly and subsequent defects in glycosylation and autophagy.
Title: Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.
ATP6AP2 disruption leads to cognitive impairment and neurodegeneration, mimicking aspects of the neuropathology associated with ATP6AP2 mutations in humans.
Title: Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration.
Two roles for VhaPRR, one for planar cell polarity and another in endosomal trafficking. This dual function establishes VhaPRR as a key factor in epithelial morphogenesis.
Title: Drosophila ATP6AP2/VhaPRR functions both as a novel planar cell polarity core protein and a regulator of endosomal trafficking.
The Drosophila protein CG8444 is a prorenin receptor (named herein dPRR), and has an evolutionarily conserved role at the receptor level for activation of canonical and noncanonical Wnt/Fz signaling pathways.
Title: Wnt/Frizzled signaling requires dPRR, the Drosophila homolog of the prorenin receptor.
The transmembrane protein CG8444 (here termed VhaPRR) is needed for planar cell polarity signaling in Drosophila.
Title: Regulation of Frizzled-dependent planar polarity signaling by a V-ATPase subunit.

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Pathways from PubChem

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by FlyBase

Function	Evidence Code	Pubs
enables frizzled binding	IDA Inferred from Direct Assay more info	PubMed
enables signaling receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in axonal transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in compound eye development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endosomal transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of body hair or bristle planar orientation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of imaginal disc-derived wing hair orientation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of planar polarity	IGI Inferred from Genetic Interaction more info	PubMed
involved_in establishment of planar polarity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in imaginal disc-derived wing hair organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in long-term memory	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phototaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization involved in establishment of planar polarity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proton transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in short-term memory	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synapse organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vacuolar proton-transporting V-type ATPase complex assembly	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical part of cell	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of vacuolar proton-transporting V-type ATPase complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of vacuolar proton-transporting V-type ATPase complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: ATPase H+ transporting accessory protein 2

Names: ATP6AP2-PA; CG8444-PA; drosophila homologue of prorenin receptor; vacuolar H[+] ATPase M8.9 accessory subunit

NCBI Reference Sequences (RefSeq)

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Genome Annotation

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference assembly

Genomic

NT_033777.3 Reference assembly

Range

9260638..9262590

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_141619.3 → NP_649876.1 ATPase H+ transporting accessory protein 2 [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_649876.1

Status: REVIEWED

UniProtKB/Swiss-Prot

Q9VHG4

Related

FBpp0081458

Conserved Domains (1) summary

pfam07850
Location:231 → 319

Renin_r; Renin receptor-like protein