PXD061059

PXD061059 is an original dataset announced via ProteomeXchange.

Title	A novel nuclear RNA export pathway in the human testis – NXT2 is key player and azoospermia candidate gene
Description	In eukaryotic cells, the nucleocytoplasmic export of bulk poly(A)+-mRNAs through the nuclear pore complex is mediated by the ubiquitously expressed NXT1-NXF1 heterodimer. In humans, autosomal NXT1 has an X-chromosomal paralogue called NXT2, which was subject to adaptive selection in primates and exhibits testis enriched expression, suggesting a role in spermatogenesis. Here, we report on the in vivo interactome of NXT2 in the human adult testis and demonstrate a specific association with key components of the nuclear export machinery, including not only NXF1 but also the testis-specifically expressed NXF1 paralogues NXF2 and NXF3 and nuclear pore complex proteins NUP93 and NUP214. By identifying infertile men with loss-of-function variants in NXT2 and NXF3, we link the impaired NXT2-NXF interactome to disturbed germ cell maturation. The concordantly observed absence of germ cells in the patient affected by NXT2 variants suggests an NXT2-mediated function in early stages of spermatogenesis.
HostingRepository	PRIDE
AnnounceDate	2025-03-05
AnnouncementXML	Submission_2025-03-05_07:28:54.500.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Lin Ma
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	iodoacetamide derivatized residue
Instrument	Orbitrap Fusion Lumos

Revision	Datetime	Status	ChangeLog Entry
0	2025-02-21 08:59:40	ID requested
⏵ 1	2025-03-05 07:28:54	announced

Dataset with its publication pending

submitter keyword: non-obstructive azoospermia, NXF3, NXF2, nuclear transport, X chromosome,nuclear RNA export, male infertility, NXT2

Birgit Stallmeyer
contact affiliation	Centre for Medical Genetics, Institute of Reproductive Genetics, University of Münster, Vesaliusweg 12-14, 48149, Münster, Germany.
contact email	birgit.stallmeyer@ukmuenster.de
lab head
Lin Ma
contact affiliation	University of Turku
contact email	malin.ml@outlook.com
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/2025/03/PXD061059

PRIDE project URI

• PRIDE
  1. PXD061059
     1. Label: PRIDE project
     2. Name: A novel nuclear RNA export pathway in the human testis – NXT2 is key player and azoospermia candidate gene