PXD006023

PXD006023 is an original dataset announced via ProteomeXchange.

Title	AGK human LC-MSMS project part I (proteome)
Description	Mutations in the mitochondrial acylglycerol kinase AGK cause Sengers syndrome characterized by cataracts, hypertrophic cardiomyopathy and skeletal myopathy. AGK generates phosphatidic acid and lyso-phosphatidic acid, bioactive phospholipids involved in lipid signaling and the regulation of tumor progression. However, molecular mechanisms of the mitochondrial pathology remain enigmatic. Determining its mitochondrial interactome, we have identified AGK as a constituent of the TIM22 protein translocase in the mitochondrial inner membrane. AGK assembles with TIMM22 and TIMM29 and supports the import of a subset of multi-spanning membrane proteins. The function of AGK as subunit of the TIM22 translocase does not depend on its kinase activity. However, enzymatically active AGK is required to maintain mitochondrial cristae morphogenesis and the apoptotic resistance of cells. The dual function of AGK as lipid kinase and constituent of the TIM22 translocase reveals that disturbances in both phospholipid metabolism and mitochondrial protein biogenesis contribute to the pathogenesis of Sengers syndrome. See the published paper for more information of the experimental setup.
HostingRepository	PRIDE
AnnounceDate	2024-10-22
AnnouncementXML	Submission_2024-10-22_04:07:17.541.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Hendrik Nolte
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	No PTMs are included in the dataset
Instrument	Q Exactive

Revision	Datetime	Status	ChangeLog Entry
0	2017-03-06 01:17:53	ID requested
1	2017-08-14 04:11:25	announced
⏵ 2	2024-10-22 04:07:19	announced	2024-10-22: Updated project metadata.

10.1016/j.molcel.2017.06.013;

Vukotic M, Nolte H, K, ö, nig T, Saita S, Ananjew M, Kr, ü, ger M, Tatsuta T, Langer T, Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria. Mol Cell, 67(3):471-483.e7(2017) [pubmed]

curator keyword: Biomedical

submitter keyword: AGK, human, LC-MS/MS

Marcus Krüger
contact affiliation	Institute for Genetics and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany
contact email	marcus.krueger@uni-koeln.de
lab head
Hendrik Nolte
contact affiliation	Institute for Genetics and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD)
contact email	h.nolte@uni-koeln.de
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2017/08/PXD006023

PRIDE project URI

• PRIDE
  1. PXD006023
     1. Label: PRIDE project
     2. Name: AGK human LC-MSMS project part I (proteome)