PXD055830-1

PXD055830 is an original dataset announced via ProteomeXchange.

Title	The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture
Description	We report on three families in which CPLANE2/RSG1 variants are associated with Oral-Facial-Digital syndrome. Experiments in Xenopus reveal these missense variants to be “separation of function” alleles for Rsg1. Because one of the disease variants is within the GTP-binding pocket of the Rsg1 GTPase, we then used APMS in mouse cells to identify the GTP-dependent interactome of Rsg1, which led us to discover that Rsg1 binds directly to the lipid-binding BAR domain protein Fam92, itself a ciliopathy gene that encodes component of the ciliary transition zone. Finally, using experiments in human cells, we show that Rsg1 is required not only for ciliogenesis but also for Fam92a recruitment to basal bodies. Finally, we show that recruitment of transition zone components is a general function of the CPLANE complex, not restricted to Rsg1.
HostingRepository	PRIDE
AnnounceDate	2025-07-01
AnnouncementXML	Submission_2025-07-01_10:51:06.146.xml
DigitalObjectIdentifier	https://dx.doi.org/10.6019/PXD055830
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Supported dataset by repository
PrimarySubmitter	Janos Demeter
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	phosphorylated residue; acetylated residue; monohydroxylated residue; deamidated residue; iodoacetamide derivatized residue
Instrument	timsTOF Pro

Revision	Datetime	Status	ChangeLog Entry
0	2024-09-12 17:57:26	ID requested
⏵ 1	2025-07-01 10:51:06	announced

10.6019/PXD055830;

10.1038/S41467-025-61005-8;

submitter keyword: cilia, Rsg1, ciliopathy, GTPase, oral-facial-digital syndrome,CPLANE2, CPLANE

Peter Kent Jackson
contact affiliation	Baxter Laboratory for Stem Cell Biology Department of Microbiology & Immunology Stanford University School of Medicine
contact email	pjackson@stanford.edu
lab head
Janos Demeter
contact affiliation	Stanford University
contact email	jdemeter@stanford.edu
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD055830
     1. Label: PRIDE project
     2. Name: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture