PXD045032

PXD045032 is an original dataset announced via ProteomeXchange.

Title	Loss of the NK Motif And AnKyrin Repeat Domain 1 (KANK1) leads to lymphoid compartment dysregulation in mice
Description	The NK Motif And AnKyrin Repeat Domain 1 (KANK1) gene protein plays a role in the control of cytoskeleton formation by regulating actin polymerization. A t(5;9) translocation resulting in a fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) and KANK1 was detected in a patient with myeloid neoplasm (MN) characterized with severe thrombocythemia[2]. The protein is thought to have a tumour suppressor function, as its expression is downregulated or missing in several tumor tissues, while over-expressing the protein was reported to inhibit the proliferation of tumor cells in solid cancer models [3-5]. We established a novel germline loss of heterozygosity (LOH) mutation encompassing the KANK1 gene in a young Myelodysplastic syndrome (MDS) patient and his healthy father, with no additional MDS-related mutations or chromosomal abnormalities. Clinical investigation suggested development of MDS following severe infection, likely triggered by an autoimmune mechanism. The Kank1-/- mice remained healthy and did not develop any hematological abnormality. loss of Kank1 expression led to alteration in the cologenic and proliferative potential of murine BM cells and decrease in HSPCs population frequency. Comprehensive marker expression analysis of lineage cell populations indicated a role for Kank1 in lymphoid cells differentiation. Total protein analysis suggests the involvement of Kank1 in BM cells’ cytoskeleton formation and mobility.
HostingRepository	PRIDE
AnnounceDate	2024-01-26
AnnouncementXML	Submission_2024-01-26_06:20:55.090.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Erwin Schoof
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationList	acetylated residue; monohydroxylated residue; iodoacetamide derivatized residue
Instrument	Orbitrap Eclipse; Orbitrap Exploris 480

Revision	Datetime	Status	ChangeLog Entry
0	2023-09-01 07:10:00	ID requested
⏵ 1	2024-01-26 06:20:56	announced

Almosailleakh M, Bentivegna S, Narcisi S, Benquet SJ, Gillberg L, Monta, ñ, o-Almendras CP, Savickas S, Schoof EM, Wegener A, Luche H, Jensen HE, C, ô, me C, Gr, ø, nb, æ, k K, Loss of the KN Motif and AnKyrin Repeat Domain 1 (KANK1) Leads to Lymphoid Compartment Dysregulation in Murine Model. Genes (Basel), 14(10):(2023) [pubmed]

10.3390/genes14101947;

submitter keyword: mouse, LC-MS

Kirsten Groenbaek
contact affiliation	The Epi-/Genome Lab, Department of Hematology, Rigshospitalet, Ole Maaløes Vej 5, 2200 Copenhagen, Denmark
contact email	Kirsten.Groenbaek@regionh.dk
lab head
Erwin Schoof
contact affiliation	Technical University of Denmark
contact email	erws@dtu.dk
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/2024/01/PXD045032

PRIDE project URI

• PRIDE
  1. PXD045032
     1. Label: PRIDE project
     2. Name: Loss of the NK Motif And AnKyrin Repeat Domain 1 (KANK1) leads to lymphoid compartment dysregulation in mice