Ask about this productRelated genes to: C18ORF32 antibody
- Gene:
- C18orf32 NIH gene
- Name:
- chromosome 18 open reading frame 32
- Previous symbol:
- -
- Synonyms:
- FLJ23458
- Chromosome:
- 18q21.1
- Locus Type:
- gene with protein product
- Date approved:
- 2007-08-02
- Date modifiied:
- 2016-09-30
Related products to: C18ORF32 antibody
Related articles to: C18ORF32 antibody
- BACKGROUND: Lipid droplets (LDs) are essential for maintaining cellular homeostasis by storing excess lipids, but regulation of their cellular level is crucial to prevent lipotoxicity under normal conditions. METHODS AND RESULTS: In this study, we identified C18ORF32 as a key player in lipid droplet secretion through secretory autophagy pathway. In a high-throughput imaging-based organellar screening, we found that C18ORF32 primarily localizes in autophagosomes and in the endoplasmic reticulum. C18ORF32 interacts with lipid droplets via its N-terminal helix: an amphiphilic region binds to the monolayer membrane leaflet of the LD, while a hydrophobic segment embeds in the droplet’s core, ensuring stable anchoring. Mutations of the clustered aromatic amino acids of the N-terminal amphiphilic region disrupt the proper folding and LD binding of C18ORF32. Additionally, C18ORF32 associates with secretory autophagosomes by binding to C-terminal coiled-coil region of SEC22B through its unstructured C-terminal region. Knockdown of C18ORF32 impairs LD secretion, leading to increased intracellular LD accumulation and reduced extracellular release of triacylglycerols, suggesting C18ORF32’s critical role in secretory LD turnover. In vivo knockdown of C18ORF32 caused NASH-like increased hepatic lipid retention and decreased circulating free fatty acids, indicating impaired lipid droplet export via secretory autophagy. CONCLUSIONS: Our data suggest that C18ORF32 promotes the fusion of lipid droplet membranes with secretory autophagosomes, facilitating the release of LDs to extracellular space, thereby mitigating lipotoxicity under physiological conditions. These findings reveal a novel mechanism by which cells regulate lipid droplet homeostasis through secretory autophagy, with C18ORF32 acting as a critical mediator in lipid droplet trafficking and secretion. - Source: PubMed
Publication date: 2025/12/05
Kumar AbhishekGupta Shailesh KumarMathuria Yogendra PratapGhosh Debasish Kumar - Benzo[ghi]perylene (BghiP), a prevalent high-molecular-weight (HMW) polycyclic aromatic hydrocarbon (PAH) with significant environmental exposure, poses potential health risks that remain inadequately characterized. This study investigated the respiratory toxicity of BghiP exposure and its underlying mechanisms in vitro (human bronchial epithelial cells BEAS-2B and 16HBE) and in vivo (mouse model). Chronic exposure to environmentally relevant concentrations of BghiP (500 ng/mL for 2 weeks in vitro; 500 µg/m for 4 weeks in vivo) significantly reduced cell proliferation, induced apoptosis and cell cycle arrest, and caused DNA damage in BEAS-2B and 16HBE cells. In vivo, BghiP exposure increased lung coefficients, induced pathological alterations, and triggered pulmonary inflammation. Mechanistically, BghiP exposure upregulated the expression of cytochrome P450 (CYP1A1), which subsequently promoted the transcription of chimeric RNA RPL17-C18orf32. We identified that the CYP1A1/RPL17-C18orf32 axis plays a pivotal role in mediating BghiP's toxic effects. Knockdown of either CYP1A1 or RPL17-C18orf32 attenuated BghiP-induced cytotoxicity, DNA damage, and cellular dysfunction, while overexpression of RPL17-C18orf32 exacerbated these detrimental effects. Co-manipulation experiments further confirmed that CYP1A1 acts upstream to regulate RPL17-C18orf32 expression. This study is the first to provide evidence that the CYP1A1/RPL17-C18orf32 axis is a critical mediator of BghiP-induced respiratory toxicity and DNA damage. Our findings systematically elucidate the cytotoxic and genotoxic effects of BghiP, introducing the novel concept of chimeric RNA involvement in PAH toxicity mechanisms and offering a new perspective for understanding the health impacts of environmental pollutants. - Source: PubMed
Publication date: 2025/11/10
Chen SiliDing XiangyuZheng TaoDeng HaoYang Qiaoyuan - Gene expression is dysregulated in Alzheimer's disease (AD) patients, both in peripheral blood and post mortem brain. We investigated peripheral whole-blood gene (co)expression to determine molecular changes prior to symptom onset. - Source: PubMed
Publication date: 2023/07/12
Luckett Emma SZielonka MagdalenaKordjani AmineSchaeverbeke JolienAdamczuk KatarzynaDe Meyer SteffiVan Laere KoenDupont PatrickCleynen IsabelleVandenberghe Rik - Glycosylphosphatidylinositol (GPI) functions to anchor certain proteins to the cell surface. Although defects in GPI biosynthesis can result in a wide range of phenotypes, most affected patients present with neurological abnormalities and their diseases are grouped as inherited-GPI deficiency disorders. We present two siblings with global developmental delay, brain anomalies, hypotonia, and contractures. Exome sequencing revealed a homozygous variant, NM_001035005.4:c.90dupC (p.Phe31Leufs*3) in C18orf32, a gene not previously associated with any disease in humans. The encoded protein is known to be important for GPI-inositol deacylation. Knockout of C18orf32 in HEK293 cells followed by a transfection rescue assay revealed that the PIPLC (Phosphatidylinositol-Specific Phospholipase C) sensitivity of GPI-APs (GPI-anchored proteins) was restored only by the wild type and not the mutant C18orf32. Immunofluorescence revealed that the mutant C18orf32 was localized to the endoplasmic reticulum and was also found as aggregates in the nucleus. In conclusion, we identified a pathogenic variant in C18orf32 as the cause of a novel autosomal recessive neurodevelopmental disorder with hypotonia and contractures. Our results demonstrate the importance of C18orf32 in the biosynthesis of GPI-anchors, the molecular impact of the variant on the protein function, and add a novel candidate gene to the existing repertoire of genes implicated in neurodevelopmental disorders. - Source: PubMed
Publication date: 2022/02/02
Salian SmrithiGuo Xin-YuMurakami YoshikoKinoshita TarohKaur ParneetShukla AnjuGirisha Katta MFujita MorihisaCampeau Philippe M - Gene fusion, as a prototypical pathognomonic mutation, contributes to genome complexity, and the -transcription-induced gene fusions generated by read-through transcription of adjacent genes have been found to be important for tumor development. We screened read-through transcription events from stomach adenocarcinoma RNA-seq data and selected three candidates , and , to assess their biological role in gastric cancer. The expression of all three read-through fusion transcripts was confirmed in gastric cancer cell lines and paired normal/tumor gastric cancer tissues by real-time quantitative reverse transcription polymerase chain reaction and their expression was found to be significantly higher in the tumor ( < 0.05; = 75). The correlation between the expression level and clinicopathological information was statistically analyzed. The level of the read-through fusion transcript correlated with the Lauren classification and was significantly associated with the presence of perineural invasion. Overexpression of KLHL23 from - read-through transcript led to a significant increase in cell proliferation and resistance to anticancer drug treatment. Silencing of KLHL23 expression decreased cyclin D1 levels. The expression of KLHL23 from prevalent read-through transcripts of in gastric cancer may undermine the efficacy of anticancer drug treatment. - Source: PubMed
Publication date: 2016/10/24
Choi Eun-SeokLee HannaLee Chang-HunGoh Sung-Ho