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PXD037661-1

PXD037661 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleInherited anemia-associated mutations disrupt Codanin1 and CDIN1 mutual direct binding
DescriptionCongenital dyserythropoietic anemia type I (CDA-I) is a rare hereditary disease that causes ineffective erythropoiesis and morphological abnormalities in bone marrow erythroblasts. The congenital abnormalities are manifested by internuclear bridges and Swiss-cheese-like heterochromatin. CDA-I is associated with mutations in two proteins, Codanin1 and CDIN1. Codanin1 is involved in nucleosome assembly and disassembly. CDIN1 is a recently discovered protein with a predicted structure similar to an endonuclease. The critical importance of Codanin1 and CDIN1 for CDA-I progression merited a thorough investigation of the structure-function relations of both proteins. Here, we reveal essential interacting regions between CDIN1 and Codanin1. We described the structural envelopes and the stoichiometry of proteins. Additionally, we quantified CDIN1-Codanin1 binding affinity in the low nanomolar range. Finally, we show how the anemia-associated mutations residing in defined interaction regions disturb the direct interaction of CDIN1 and Codanin1. The presented pivotal study of the structure and function of Codanin1 and CDIN1 is a significant step toward unraveling the CDA-I activation and progression mechanisms at the molecular level.
HostingRepositoryPRIDE
AnnounceDate2026-09-07
AnnouncementXMLSubmission_2026-09-06_16:16:30.353.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterLenka Hernychova
SpeciesList scientific name: Homo sapiens (Human); NCBI TaxID: NEWT:9606;
ModificationListNo PTMs are included in the dataset
InstrumentLTQ Orbitrap Elite
Dataset History
RevisionDatetimeStatusChangeLog Entry
02022-10-24 01:06:53ID requested
12026-09-06 16:16:31announced
Publication List
Stojaspal M, Brom T, Ne, č, asov, á I, Janovi, č T, Veverka P, Verma N, Uhr, í, k L, Hernychova L, Hofr C, Anemia-associated mutations disrupt the CDIN1-Codanin1 complex in inherited congenital dyserythropoietic anemia I (CDA-I) disease. FEBS J, 293(14):4288-4305(2026) [pubmed]
10.1111/febs.70421;
Keyword List
submitter keyword: Rare diseases, CDIN1, LC-MSMS, C15ORF41, Codanin1, congenital dyserythropoietic anemia, HDX-MS
Contact List
doc. Mgr. Ctirad Hofr, Ph.D.
contact affiliationNational Centre for Biomolecular Research Faculty of Science, Masaryk University Kamenice 753/5, 625 00 Brno, Czech Republic
contact emailhofr@sci.muni.cz
lab head
Lenka Hernychova
contact affiliationMasaryk Memorial Cancer Institutre, Zluty kopec 7, Brno 656 53, Czech Republic
contact emaillenka.hernychova@mou.cz
dataset submitter
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Dataset FTP location
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