C4orf48

Last update 08 May 2025

Basic Info

Synonyms

C4orf48, chromosome 4 open reading frame 48, Neuropeptide-like protein C4orf48

Introduction

mRNA-binding protein which interacts with a range of target mRNAs including SERPINE1, ACTA2, CCN2 and COL4A1 and may promote extracellular matrix production. Binds to the 3'-UTR of SERPINE1 mRNA and stabilizes the mRNA, possibly by competing for binding with SERBP1 and preventing SERBP1-mediated mRNA degradation. Also binds to the 3'-UTR of ACTA2. Testis-derived lumicrine factor that triggers epididymal differentiation and sperm maturation.

100 Clinical Results associated with C4orf48

100 Translational Medicine associated with C4orf48

0 Patents (Medical) associated with C4orf48

Literatures (Medical) associated with C4orf48

17 Jan 2025·Current Medicinal Chemistry

Mendelian Randomization and Transcriptome Data Analysis Reveal Bidirectional Causal Relationships and Mechanisms Between Type 2 Diabetes and Gastric Cancer

Article

Author: Cui, Shichang ; Ma, Junyang ; Hou, Shufu ; Gao, Yuan ; Zhu, Jiankang

Introduction:Gastric cancer (GC) is the fifth most common cancer globally, and the relationship between type 2 diabetes mellitus (T2DM) and cancer risk remains controversial.Methods:We performed Mendelian randomization (MR) analysis using publicly available GWAS data to assess the causal relationship between T2DM and GC, validated by heterogeneity and pleiotropy analyses. Transcriptomic data from TCGA and GEO were analyzed to identify common differentially expressed genes (DEGs). Weighted gene co-- expression network analysis (WGCNA) was used to construct a prognostic risk model. Drug sensitivity and immune infiltration were evaluated using GDSC and ImmuCellAI, respectively. Additionally, gene mutation analysis was conducted using TCGA data.Results:The Mendelian randomization analysis revealed a causal relationship between T2DM and GC at the genetic level. Specifically, the causal effect of T2DM on GC was estimated with an odds ratio (OR) of 1.32 (95% CI: 1.12-1.56), while the reverse causal effect of GC on T2DM was estimated at an OR of 0.78 (95% CI: 0.67-0.91). Sensitivity analyses, including Cochran's Q test and the leave-one-out test, confirmed the robustness of these findings. We constructed a prognostic risk score consisting of three T2DM-related genes (CST2, PSAPL1, and C4orf48) based on transcriptome data analysis. Patients with high-risk scores exhibited significantly worse overall survival (OS) (p < 0.05). Cox regression analysis further confirmed the independent predictive value of the risk score for GC prognosis. Our predictive model demonstrated good performance, with an AUC of 0.786 in the training set and 0.757 in the validation set. Gene enrichment analysis indicated that the genes shared between T2DM and GC were associated with inflammatory response, immune response, and metabolic pathways. Tumor immune microenvironment analysis suggested that immune evasion mechanisms may play a key role in developing GC in patients with coexisting T2DM.Conclusion:T2DM is associated with reduced GC risk. The risk score and model may help guide GC prognosis and management.

01 Dec 2024·Current Medicinal Chemistry

Integrating Single-cell and Bulk RNA-seq to Construct a Metastasis-related Model for Evaluating Immunotherapy and Chemotherapy in Uveal Melanoma

Article

Author: Jiang, Xue ; Du, Yue ; Ying, Jianing ; Yi, Quanyong ; Zhang, Yanyan

Background:Metastasis is a major cause of death in UM, highlighting the need to use highly specific and sensitive prognostic markers to identify patients with a risk of developing metastasis.Aims:The aim of this study was to improve the current precision treatment for patients with metastatic uveal melanoma (UM).Objective:The objective of this work was to investigate the heterogeneity between primary human UM and metastatic UM at the single-cell level and to discover potential molecules regulating UM metastasis.Methods:Seurat R toolkit was employed to analyze single-cell sequencing data of UM and to identify differentially expressed genes (DEGs) between primary and metastatic UM. Least absolute shrinkage and selection operator (LASSO) and Cox regression analyses were performed on the DEGs from the bulk RNA-seq cohort to develop a prognostic model. Based on the model, patients were divided into high and low groups. The correlations among the risk score, immune indicators, immune checkpoint blockade (ICB) therapy, and anti-tumor drug therapy were analyzed.Results:Cell types in primary UM and metastatic UM tumors include B/plasma cells, endothelial cells, melanocytes, monocytes/macrophages, photoreceptor cells, and T cells. Among 157 DEGs between the two tumor types, S100A4, PDE4B, CHCHD10, NSG1, and C4orf48 were selected to construct a prognostic model. The model could accurately and independently predict response to ICB treatment and sensitivity to antineoplastic drugs for UM patients as well as their immune infiltration levels, risk of death, and metastasis possibility.Conclusions:This study analyzed the tumor ecosystem of primary and metastatic UM, providing a metastasis-related model that could be used to evaluate the prognosis, risk of metastasis, immunotherapy, and efficacy of antineoplastic drug treatment of UM.

15 May 2024·Journal of Clinical Investigation

The secreted micropeptide C4orf48 enhances renal fibrosis via an RNA-binding mechanism

Article

Author: Jiang, Xiaoyun ; Yu, Xueqing ; Meng, Yue ; Combes, Alexander N ; Yang, Jiayi ; Sia, Youyang ; Li, Jinhua ; Chen, Huiting ; Zhuang, Hongjie ; Gu, Bing ; Nunez-Nescolarde, Ana B ; Li, Andy ; Fan, Jinjin ; Ye, Zhiming ; Qu, Xinli ; Zhang, Xingyuan ; Wang, Qing ; Chen, Wei ; Luo, Ning ; Nikolic-Paterson, David J ; Wu, Di ; Bai, Xiaoyan

Renal interstitial fibrosis is an important mechanism in the progression of chronic kidney disease (CKD) to end-stage kidney disease. However, we lack specific treatments to slow or halt renal fibrosis. Ribosome profiling identified upregulation of a secreted micropeptide, C4orf48 (Cf48), in mouse diabetic nephropathy. Cf48 RNA and protein levels were upregulated in tubular epithelial cells in human and experimental CKD. Serum Cf48 levels were increased in human CKD and correlated with loss of kidney function, increasing CKD stage, and the degree of active interstitial fibrosis. Cf48 overexpression in mice accelerated renal fibrosis, while Cf48 gene deletion or knockdown by antisense oligonucleotides significantly reduced renal fibrosis in CKD models. In vitro, recombinant Cf48 (rCf48) enhanced TGF-β1-induced fibrotic responses in renal fibroblasts and epithelial cells independently of Smad3 phosphorylation. Cellular uptake of Cf48 and its profibrotic response in fibroblasts operated via the transferrin receptor. RNA immunoprecipitation-sequencing identified Cf48 binding to mRNA of genes involved in the fibrotic response, including Serpine1, Acta2, Ccn2, and Col4a1. rCf48 binds to the 3'UTR of Serpine1 and increases mRNA half-life. We identify the secreted Cf48 micropeptide as a potential enhancer of renal fibrosis that operates as an RNA-binding peptide to promote the production of extracellular matrix.

Analysis

Perform a panoramic analysis of this field.

view full example data

AI Agents Built for Biopharma Breakthroughs

Accelerate discovery. Empower decisions. Transform outcomes.

Get started for free today!

Accelerate Strategic R&D decision making with Synapse, PatSnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.

Start your data trial now!

Synapse data is also accessible to external entities via APIs or data packages. Empower better decisions with the latest in pharmaceutical intelligence.

Bio

Bio Sequences Search & Analysis

Chemical

Chemical Structures Search & Analysis

C4orf48

Basic Info

Related

Analysis