Ask about this productRelated genes to: FAM120A antibody
- Gene:
- FAM120A NIH gene
- Name:
- family with sequence similarity 120A
- Previous symbol:
- C9orf10
- Synonyms:
- KIAA0183, OSSA
- Chromosome:
- 9q22.31
- Locus Type:
- gene with protein product
- Date approved:
- 2002-10-09
- Date modifiied:
- 2017-07-12
Related products to: FAM120A antibody
Related articles to: FAM120A antibody
- Amyotrophic lateral sclerosis (ALS) is a disabling and fatal neurological disease, which is characterized by the loss of motor neuron function in the brain and spinal cord. Due to genetic complexity, ALS disease is not well understood. By applying a bioinformatic approach, referred to as convergent analysis, we identified the poorly characterized protein FAM120A as a new candidate gene related to RNA metabolism, a process known to be affected during ALS disease. We studied Fam120A in the context of ALS and using an ALS mouse model and a cellular model. We found that mRNA levels were decreased in the pre-symptomatic stage in the spinal cord of SOD1 mice, while Fam120A protein levels were decreased at the symptomatic stage. Fam120A was expressed mainly in neurons in the spinal cord. Overexpression of FAM120A in a motor neuron cell culture model decreased the levels of SOD1 aggregates. In summary, our results warrant further studies of FAM120A in the context of ALS, since it appears to be involved in disease progression and might have a role in proteostasis maintenance. - Source: PubMed
Publication date: 2026/02/10
Vicencio EmilianoGomez LauraBeltran SebastianHernandez FernandaRodriguez LeonardoBravo ConstanzaJofré ThiareGálvez FabiánLabrador LuisRojas-Rivera DiegoCortés Bastián ICortez CristianManque PatricioWoehlbier Ute - Cisplatin-based chemotherapy is a standard treatment for non-small cell lung cancer (NSCLC), but drug resistance poses a major clinical challenge. Stress-adaptive mechanisms, such as stress granule (SG) formation, are increasingly recognized alternative pathways that facilitate cancer cell survival. Here, we identify the RNA-binding protein, family with sequence similarity 120A (FAM120A), as an SG-associated factor that drives cisplatin resistance in NSCLC. FAM120A expression was markedly elevated in cisplatin-resistant NSCLC cell lines and clinical tumor specimens and was essential for SG formation and cell survival following cisplatin-induced stress. We found that the intrinsically disordered RNA-binding domain of FAM120A is essential for its incorporation into SGs and for its cytoprotective function. Using enhanced cross-linking immunoprecipitation sequencing data and RNA immunoprecipitation-qPCR, we identified the long noncoding RNA, metastasis-associated lung adenocarcinoma transcript 1 as a key FAM120A interacting partner. MALAT1 levels were reduced upon FAM120A depletion, and overexpression of MALAT1 was sufficient to restore cisplatin resistance in these cells. These findings suggest that MALAT1 is an RNA species that is stabilized by FAM120A and involved in the cellular response to chemotherapy. Targeting this regulatory mechanism may offer new therapeutic strategies to overcome cisplatin resistance in NSCLC. - Source: PubMed
Hayai ShunsakuSuzuki Miho MIijima KentaShinjo KeikoMurofushi YoshiteruXie JingqiNishimura TatsunoriIshii MakotoKondo Yutaka - Colorectal cancer (CRC) is the second leading cause of cancer-related mortality. Given its established associations with gut microbiota and inflammatory bowel disease (IBD), elucidating their relationships and developing predictive models are critical for early detection and therapy. Using Mendelian randomization (MR), we integrated data from the MiBioGen Consortium and multiple genome-wide association studies (GWAS). Single nucleotide polymorphisms (SNPs) associated with gut microbiota were mapped to genes, followed by gene selection via least absolute shrinkage and selection operator (LASSO) regression. Transcriptome analyses identified differential gene expressions and immune cell infiltration patterns. Six machine learning models were integrated through soft voting to predict CRC risk, validated by single-cell sequencing analysis. Mediation MR identified 12 gut microbial taxa causally associated with CRC, mediated partially by IBD. SNP mapping and expression analysis highlighted eight CRC-associated genes, five of which (FAM120A, GBE1, MCM6, MSRA, ZDHHC4) were further underscored by drug target MR and summary-data-based MR (SMR). Transcriptomics implicated dysregulation in the neuroactive ligand-receptor interactions and the G2/M DNA checkpoint pathway. Immune infiltration analysis demonstrated elevated CD4⁺ T cells and M0 macrophages in the high-LASSO score group. Integrated machine learning models built using the five key genes achieved robust predictive performance. Single-cell sequencing analysis confirmed gene expression patterns. By integrating mediation MR, transcriptomics, and machine learning, this study demonstrated causal relationships between specific gut microbiota and CRC, with IBD as a mediator. We identified potential therapeutic targets and developed robust predictive models, providing crucial insights into the pathogenesis and clinical detection of CRC. - Source: PubMed
Publication date: 2025/09/22
Wang Jin-BeiWu Zhen-GuoBi Guan-WeiLi YuYao Zhi-WenYu Yan-Bo - NOD-like receptor (NLR) family pyrin domain containing 3 (NLRP3) involves in inflammasome complex assembly and innate immunity. Activation of the NLRP3 inflammasome induces conformational alterations in protein complexes, influencing their interactions with other molecules, which in turn affects protein thermal stability. To investigate the proteome-wide thermal stability alterations induced by NLRP3 inflammasome activation, we conducted a comprehensive analysis of meltome dynamics using thermal proteome profiling. Our analysis identified 337 proteins exhibiting alterations in thermal stability upon NLRP3 inflammasome activation. Subsequently, we validated three proteins by the cellular thermal shift assay. Notably, our findings reveal that the majority of these proteins tend to cluster into distinct macromolecular complexes. Furthermore, we identified FAM120A as a novel NLRP3 binding partner, with its suppression enhancing caspase-1 activation and IL-1β release in response to NLRP3 agonist. Collectively, these data provide a comprehensive framework for understanding the mechanisms of NLRP3 inflammasome activation and underscore the utility of thermal proteome profiling in exploring proteome-wide thermal stability changes during signaling transduction. - Source: PubMed
Publication date: 2025/04/16
Yang ChenWang LingLiu YuchenZhang YuehuiJin ChaozhiCheng JialeShang LiminFang LonglongWu ShanshanChen ChuanWang Jian - Studying the genetic basis of post-traumatic stress disorder (PTSD) can be useful in predicting its risk in a person with a history of severe traumatic stress and in facilitating earlier diagnosis and referral to a specialist. The aim of the study is to review all GWAS studies related to PTSD. In total, 20 studies were included, of which 5 meta-analyses and 9 included war veterans. The functions of genes and their associations were considered, which included single-cell polymorphisms in different groups of genes involved in embryogenesis, neuron formation, and cell functioning, as well as many DNA sequences with non-coding RNA transcribed. The repeatability of the results between studies and replicative samples was studied. Between the studies, the associations were repeated in the (3 studies) (3 studies) genes A new large-scale study with many found associations was considered individually. Studies regarding polygenic risk were also studied, and several studies showed genetic comorbidity with anxiety and bipolar disorder. However, the models developed by the authors explain a small percentage of variance and are weakly repeated in other samples. It may be possible to solve this problem by using larger samples and clearer homogeneous inclusion criteria. Thus, at the moment, there are few GWAS studies of PTSD; they are ambiguous and uninformative compared to the same studies for other mental disorders, but they have further potential for assessing the risks of developing the disease. - Source: PubMed
Zorkina Y AGolubeva E AGurina O IReznik A MMorozova A Y