PXD008389

PXD008389 is an original dataset announced via ProteomeXchange.

Title	MUC1(insC) affects vesicular transport in renal epithelial cells
Description	Autosomal dominant tubulointerstitial kidney disease associated to the MUC1 gene (ADTKD-MUC1; formerly MCKD1) belongs to a heterogenous group of rare hereditary kidney diseases that is prototypically caused by frameshift mutations in the MUC1 repeat domain. The mutant MUC1(insC) lacks the transmembrane domaine, exhibits aberant cellular topology and hence might gain a function during the pathological process. To get insight into potential pathomechanisms we performed differential proteomics of extracellular vesicles shed by renal epithelia into the urine of patients. The study was based on three ADTKD patients and individual controls applying iTRAQ/LC-MS/MS. A total of 727 proteins were identified across all biological and technical replicates. A proportion of 47 proteins (6.5%) were fold-changed species. GO Term Enrichment analysis revealed proteins with significantly changed expression in ADTKD-associated extracellular vesicles as vesicular transport-associated proteins. Among these VTA1 is involved in the multivesicular body (MVB) pathway similar to the charged multivesicular body protein CHMP2B. VTA1 is also claimed to play roles as a cofactor of the AAA ATPases VPS4A and B in the disassembly of ESCRT III. Protein interaction databases list VPS4B, CHMP2A and IST1 as VTA1 binding partners.
HostingRepository	PRIDE
AnnounceDate	2024-10-22
AnnouncementXML	Submission_2024-10-22_04:42:30.293.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Stefan Mueller
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	iTRAQ8plex-116 reporter+balance reagent acylated residue; monohydroxylated residue; iodoacetamide derivatized residue
Instrument	Q Exactive

Revision	Datetime	Status	ChangeLog Entry
0	2017-12-07 08:19:26	ID requested
1	2018-02-23 04:24:29	announced
⏵ 2	2024-10-22 04:42:31	announced	2024-10-22: Updated project metadata.

Staubach S, Wenzel A, Beck BB, Rinschen MM, M, ü, ller S, Hanisch FG, Autosomal Tubulointerstitial Kidney Disease-MUC1 Type: Differential Proteomics Suggests that Mutated MUC1 (insC) Affects Vesicular Transport in Renal Epithelial Cells. Proteomics, 18(7):e1700456(2018) [pubmed]

10.1002/pmic.201700456;

curator keyword: Biomedical

submitter keyword: exosomes,ADTKD-MUC1 / MDCK1 / vesicular transport / multivesicular bodies

Franz-Georg Hanisch
contact affiliation	Institute of Biochemistry II, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931 Köln, Germany; Center for Molecular Medicine Cologne, University of Cologne, Robert-Koch-Str. 21, 50931 Köln, Germany
contact email	franz.hanisch@uni-koeln.de
lab head
Stefan Mueller
contact affiliation	Center for Molecular Medicine Cologne (CMMC)
contact email	stefan.mueller@uni-koeln.de
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD008389
     1. Label: PRIDE project
     2. Name: MUC1(insC) affects vesicular transport in renal epithelial cells