PXD076288

PXD076288 is an original dataset announced via ProteomeXchange.

Title	Regulatory impact of a 5’UTR resident Single Nucleotide Variant on EDN1 gene expression and RNA-protein interactions
Description	Non-coding regulatory variants are gaining a lot of attention in recent years. This study identifies a 5’UTR variant of the Endothelin-1 gene (EDN1) linked to elevated production of Endothelin-1. The potent vasoactive Endothelin-1 (ET-1) peptide is implicated in vascular homeostasis. Its dysregulated production disturbs the balance between vasodilation and vasoconstriction with pathophysiological consequences including cardiovascular diseases. In an observational study with 95 CAD patients two were identified as homozygous for an insertion of ‘A’ at +139 position of 5’UTR region of EDN1 gene. These patients exhibited elevated median plasma ET-1 levels (16.02 pg/ml), compared to 6.6 pg/ml and 3.87 pg/ml observed in patients without the insertion in the homozygous and heterozygous states, respectively. This clinical observation, uninformative statistically, was verified in vitro through reporter assays that demonstrated a significant increase in ET-1 expression. RNA affinity pull-down coupled with MS/MS was further employed to delineate differential RNA protein interactions. Proteomic profiling identified recruitment of RNA-binding proteins by the insertion variant. Collectively, these findings implicate the +139 A insertion in the EDN1 5′-UTR as a functional non-coding variant that primarily enhances ET-1 expression through post-transcriptional mechanisms, including translation efficiency and mRNA stability, thereby influencing cardiovascular disease risk.
HostingRepository	PRIDE
AnnounceDate	2026-06-01
AnnouncementXML	Submission_2026-05-31_16:08:56.561.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Ekta Sachdeva
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: NEWT:9606;
ModificationList	acetylated residue; monohydroxylated residue; iodoacetamide derivatized residue
Instrument	orbitrap

Revision	Datetime	Status	ChangeLog Entry
0	2026-03-28 11:36:27	ID requested
⏵ 1	2026-05-31 16:08:57	announced

Sachdeva E, Himanshi, Dimri T, Yadav K, Goyal R, Pradhan D, Gupta A, Regulatory impact of a 5'UTR resident single nucleotide variant on EDN1 gene expression and RNA-protein interactions. Sci Rep, 16(1):(2026) [pubmed]

10.1038/s41598-026-47439-0;

submitter keyword: ET-1: Endothelin-1

EDN1: Endothelin-1 gene

CAD: Coronary Artery Disease

SNPs/SNVs: Single nucleotide polymorphisms/Single Nucleotide Variants

5′UTR: 5′Untranslated region

Ins./del.: Insertion/deletion

HEK293T: Human Embryonic Kidney (293-T) cells

HUVEC: Human Umbilical Vein Endothelial Cells

DHX9: DExH-box helicase 9

HNRPA3: Heterogeneous nuclear ribonucleoprotein A3

Dr Anushree Gupta
contact affiliation	Additional Professor and Head Department of Biotechnology, Ail India institute of Medical Sciences New Delhi -110029
contact email	anushree.gupta@aiims.edu
lab head
Ekta Sachdeva
contact affiliation	All India Institute of Medical Science, New Delhi
contact email	ektasachdeva@aiims.edu
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD076288
     1. Label: PRIDE project
     2. Name: Regulatory impact of a 5’UTR resident Single Nucleotide Variant on EDN1 gene expression and RNA-protein interactions