Ask about this productRelated genes to: RTN4IP1 Blocking Peptide
- Gene:
- RTN4IP1 NIH gene
- Name:
- reticulon 4 interacting protein 1
- Previous symbol:
- -
- Synonyms:
- NIMP
- Chromosome:
- 6q21
- Locus Type:
- gene with protein product
- Date approved:
- 2002-05-23
- Date modifiied:
- 2014-11-18
Related products to: RTN4IP1 Blocking Peptide
Related articles to: RTN4IP1 Blocking Peptide
- Biallelic pathogenic variants of the Reticulon 4 interacting protein 1 (RTN4IP1) gene are responsible for optic atrophy, either isolated or associated with ataxia, mental retardation, and seizures. They are identified as a cause of hereditary optic neuropathy in 7% of patients diagnosed before the age of 20. We have built a dataset for this gene by collating all the clinical cases available in the literature, and unpublished patients diagnosed at our centre, using standard nomenclature to describe both the molecular and phenotypic features. We performed a comprehensive data analysis, based on computational reasoning, to provide an overall picture of the dataset and validate its relevance. This new dataset provides an updated genetic map of the reported pathogenic variants, an ontological annotation of phenotypic abnormalities in a grid format showing clinical heterogeneity, and a full interoperability with the databases of other genetic forms of optic neuropathies. - Source: PubMed
Publication date: 2026/05/07
Rocatcher AudeDieu XavierDesquiret-Dumas ValérieBilliet BenjaminChassaing NicolasDollfus HélèneMeunier IsabelleRougier Marie-BénédictePolfrit YannLenaers GuyMilea DanGohier PhilippeMirebeau-Prunier DelphineAmati-Bonneau PatriziaReynier PascalFerré Marc - Distant organ metastasis is the leading cause of mortality in breast cancer (BC), particularly in aggressive subtypes such as triple-negative breast cancer (TNBC). Metabolic reprogramming is a key driver of TNBC metastasis and is closely linked to remodeling of the mitochondrial proteome. Reticulon 4-interacting protein 1 (RTN4IP1) is a mitochondrial matrix protein that has recently emerged as a regulator of cellular metabolism. However, whether RTN4IP1 promotes BC metastasis through metabolic reprogramming remains unclear. - Source: PubMed
Publication date: 2026/04/14
Han ChaoMao KeleiZhang DihuiLiu DongxuYu Zhigang - Abnormal expression of RTN4IP1 is implicated in diverse pathologies, including malignant tumors, yet its role in breast cancer (BC) remains insufficiently defined. This study integrated TCGA-based bioinformatics analysis with experimental validation to characterize RTN4IP1-related phenotypes. RTN4IP1 mRNA and protein levels were elevated in BC tissues compared to normal breast tissue, with higher expression correlating with advanced T/N stages, HER2 positivity, aggressive PAM50 subtypes, and lower PR/ER status. Clinically, increased RTN4IP1 expression was more frequent in Black/African American patients, postmenopausal women, and invasive ductal carcinoma cases. Elevated expression was also linked to poorer overall survival in both the TNBC and HER2-positive subgroups. Functional assays showed that RTN4IP1 silencing was accompanied by reduced proliferation, increased apoptosis, and inhibited xenograft growth in MCF-7 and MDA-MB-453 models, whereas overexpression exhibited the opposite pattern. RTN4IP1 expression was further linked to features of the tumor immune microenvironment and to differential responses to Tamoxifen and Paclitaxel; inhibition of RTN4IP1 was associated with greater drug sensitivity, while overexpression coincided with reduced response. Together, these findings indicate that RTN4IP1 is closely associated with BC progression, prognosis, and treatment response, supporting its potential relevance as a biomarker and a candidate target for further investigation. - Source: PubMed
Publication date: 2026/02/09
He WeijieJiang YilingJiang BaohongTang YuanbinZeng LijunLuo LunqiLiao XiaolinWu SixuanTan YeruLi Yuehua - RTN4IP1 encodes a mitochondrial oxidoreductase essential for coenzyme Q biosynthesis; pathogenic variants have been reported mainly in optic neuropathy and encephalopathy. We describe a 30-year-old woman carrying three novel pathogenic RTN4IP1 variants by exome sequencing (c.1163G>A p.Arg388Gln, c.949A>C p.Met317Leu, and c.1109T>C p.Phe370Ser), who presented with panhypopituitarism, optic nerve hypoplasia, corpus callosum agenesis, bicuspid aortic valve disease, seizures, and muscle pain, already on conventional hormone replacement. Coenzyme Q10 (CoQ10) (200 mg) was administered orally for six months; outcomes were assessed using BPI, WOMAC, TUG, LEFS, grip-strength dynamometry, SF-36, CPK, and LDH, and after six months of daily 200 mg CoQ10, the patient showed marked reductions in pain (BPI 4 → 0.8; -80%) and muscle-damage markers (CPK 254 → 110 U/L) together with gains in grip strength (+49%) and lower-extremity function (LEFS 31 → 60; +94%). SF-36 domains related to physical health showed marked gains, while emotional scores remained stable. This is the first report linking RTN4IP1 mutations to endocrine failure and suggesting a therapeutic role for CoQ10 in mitochondrial-related endocrine disease. - Source: PubMed
Publication date: 2026/02/13
Digitale Selvaggio LuciaAllosso FrancescaErrico MartinaGrande GraziellaYousaf MuhammadTorella AnnalauraNigro VincenzoPasquali Daniela - BACKGROUND: Meningiomas are among the most prevalent central nervous system (CNS) tumors, with up to 20% of cases exhibiting recurrence or aggressive behavior. Hypoxia is a key driver of malignant transformation and therapeutic resistance, yet its molecular basis in meningioma remains poorly understood. METHODS: We conducted integrative transcriptomic and epigenomic profiling of IOMM-Lee cells (grade 3 meningioma) cultured under hypoxic (0.2% O₂) and normoxic conditions. RNA-sequencing and Illumina MethylationEPIC v2.0 data were analyzed in R using DESeq2 and minfi, respectively. Functional enrichment, transcription-factor binding analysis, and pathway mapping (clusterProfiler, enrichR) were performed. Findings were cross-validated in public meningioma datasets, in Indian meningioma patient cohort and cell line via RT-qPCR, and azacytidine-based demethylation assay. Functional role of the candidate gene was elucidated in vitro via cellular assays. RESULTS: Hypoxia triggered a canonical HIF1A-driven transcriptional program activating glycolytic and angiogenic pathways while downregulating genes associated with DNA repair and replication in meningioma. Several differentially expressed genes (DEGs) were identified as known oncogenes, tumor-suppressors, or associated with immune regulation and stemness. Promoter motif analysis identified HIF1, SP1, TP53, BRCA1, and E2F1 as enriched transcriptional regulators. We validated hypoxia and HIF1-mediated regulation of some of the top DEGs. DNA-methylation analysis revealed epigenetic silencing of RTN4IP1 and ZBTB7C under hypoxia, reversible upon azacytidine treatment. Integrative comparison with patient datasets highlighted SLITRK2, PDE4C, SGCD, and LRP1B as hypoxia-responsive genes associated with poor prognosis. Several hypoxia-regulated genes also showed significant correlation with known hypoxia biomarkers, VEGFA and CA9. IGFBP3 and NDRG1 were among the top hypoxia-associated upregulated genes, and IGFBP3 expression was linked to advanced meningioma grades. Knockdown of IGFBP3 via siRNA in hypoxia-treated IOMM-Lee cells was associated with reduced cell proliferation and migration. CONCLUSIONS: This study presents the first integrated transcriptomic–epigenomic landscape of hypoxia in grade 3 meningioma, uncovering regulatory networks and candidate biomarkers with prognostic and therapeutic potential. These findings provide a foundation for future translational studies targeting hypoxia-driven tumor progression in meningioma. - Source: PubMed
Publication date: 2025/12/24
Dalal MansiJoshi RitankshaAjithkumar PriyadarshanaSingh JyotsnaSuri VaishaliChatterjee AniruddhaKulshreshtha Ritu