PRUNE1

Last update 08 May 2025

Basic Info

Synonyms

DRES-17, DRES17, Drosophila-related expressed sequence 17

+ [8]

Introduction

Phosphodiesterase (PDE) that has higher activity toward cAMP than cGMP, as substrate. Plays a role in cell proliferation, migration and differentiation, and acts as a negative regulator of NME1. Plays a role in the regulation of neurogenesis (PubMed:28334956). Involved in the regulation of microtubule polymerization (PubMed:28334956).

100 Clinical Results associated with PRUNE1

100 Translational Medicine associated with PRUNE1

0 Patents (Medical) associated with PRUNE1

124

Literatures (Medical) associated with PRUNE1

01 Feb 2025·Annals of Medicine & Surgery

Very rare Palestinian case report of PRUNE1 p.Asp106Asn mutation: a mutation of global developmental delay

Article

Author: Alqarajeh, Firas ; Abu-Hilal, Lila H. ; Janem, Abdelrhman Muwafaq ; Atawneh, Osama ; Idkaidak, Sara

Introduction and importance:The PRUNE1 gene (prune exopolyphosphatase 1), situated on chromosome 1q21.3, encodes a protein crucial for early fetal brain development, regulating processes like the polymerization of microtubules, migration of cells, and proliferation. Common features of Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA) include progressive microcephaly, hypotonia, spastic quadriparesis, intellectual disability, and abnormal brain magnetic resonance imaging findings.Case presentation:A 4-month-old male infant, born at 39 weeks and 2 days via Cesarean, prenatal ultrasound findings were positive for ventricular dilation (hydrocephalus). Postnatally, the infant required admission for transient tachypnea of the newborn. Developmental delays and limb stiffness were evident by 2 months of age, prompting neurological evaluation. Examination at 4 months revealed dysmorphic features, including frontal bossing, low-set, malformed ears, and dolichocephaly, alongside axial hypotonia, spasticity, and knee contractures. Genetic testing confirmed a c.316G>A mutation in the PRUNE1 gene, establishing the diagnosis of NMIHBA.Clinical discussion:PRUNE1-related NMIHBA is a rare neurodevelopmental disorder characterized by profound developmental delays, microcephaly, and variable neurological findings. This case emphasizes the importance of early recognition and genetic testing in infants with suggestive dysmorphic and neurological features. While management remains supportive, early diagnosis aids in family counseling and long-term care planning.Conclusion:This report describes a rare presentation of NMIHBA in a Palestinian infant with a PRUNE1 gene mutation, contributing to the limited literature on this disorder. Further studies are required to understand the phenotypic spectrum and molecular mechanisms underlying PRUNE1-related disorders.

01 Sep 2024·Journal of Indian Association of Pediatric Surgeons

Genetic Markers of Spina Bifida in an Indian Cohort

Article

Author: Goel, Prabudh ; Jain, Vishesh ; Kaushik, Himani ; Yadav, Devendra Kumar ; Kumar, Neeta ; Sharma, Mahima ; Dhua, Anjan Kumar ; Agarwala, Sandeep ; Singh, Harpreet ; Kumar, Sourabh

ABSTRACTObjective:To identify the genetic markers of spina bifida through a systematic survey of the exome in an Indian cohort.Materials and Methods:Three consecutive patients (P1: 1 year, male; P2: 2.8 years, male; and P3: 10 years, female) with spina bifida (lumbosacral meningomyelocele) underwent whole-exome sequencing (libraries: SureSelect Human All Exon V8; sequencing: 2 * 150 bp paired-end run, 100×) with NovaSeq 6000. Data analysis was performed using SMART-One™ (secondary analysis) and SMARTer™ (tertiary analysis) for automated quality check, alignment (GRCh38/hg38), variant calling, annotation (ClinVar, OMIM, avsnp150, 1000 Genomes v5b, ExAC v0.3, gnomAD v4.0, and esp6500vi2all v0.0.25), v0.0.25), interpretation. The pathogenic and likely pathogenic (ClinVar/ InterVar), non-synonymous, exonic markers (read depth ≥ 5) were matched with the Familial Neural Tube Defects (Version 1.10) panel (FNTD panel).Results:Pathogenic variants overlapping with the FNTD panel were MTRR, CC2D2A, and ZIC2 in P1 and P2, TGIF1 in P1 only, and none in P3. Novel pathogenic/likely pathogenic variants common to all three patients were PRUNE1, PKD1, PDZD2, and DAB2 in the homozygous state as well as in the heterozygous state, PLK1 and NLGN2. The possible role of such markers in etiopathogenesis was explored through a literatur search.Conclusions:The genetic landscape of the spina bifida in an Indian cohort is diverse compared to that reported from other parts of the world. A comprehensive catalog of single-nucleotide variants in the etiopathogenesis of the spina bifida on a background of the Familial Neural Tube Defects Panel has been generated.

01 Jun 2024·Cancer and Metastasis Reviews

PRUNE1 and NME/NDPK family proteins influence energy metabolism and signaling in cancer metastases

Review

Author: Lomada, Santosh ; Zollo, Massimo ; Wieland, Thomas ; Ferrucci, Veronica

AbstractWe describe here the molecular basis of the complex formation of PRUNE1 with the tumor metastasis suppressors NME1 and NME2, two isoforms appertaining to the nucleoside diphosphate kinase (NDPK) enzyme family, and how this complex regulates signaling the immune system and energy metabolism, thereby shaping the tumor microenvironment (TME). Disrupting the interaction between NME1/2 and PRUNE1, as suggested, holds the potential to be an excellent therapeutic target for the treatment of cancer and the inhibition of metastasis dissemination. Furthermore, we postulate an interaction and regulation of the other Class I NME proteins, NME3 and NME4 proteins, with PRUNE1 and discuss potential functions. Class I NME1–4 proteins are NTP/NDP transphosphorylases required for balancing the intracellular pools of nucleotide diphosphates and triphosphates. They regulate different cellular functions by interacting with a large variety of other proteins, and in cancer and metastasis processes, they can exert pro- and anti-oncogenic properties depending on the cellular context. In this review, we therefore additionally discuss general aspects of class1 NME and PRUNE1 molecular structures as well as their posttranslational modifications and subcellular localization. The current knowledge on the contributions of PRUNE1 as well as NME proteins to signaling cascades is summarized with a special regard to cancer and metastasis.

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PRUNE1

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