COL18A1

更新于：2025-05-07

基本信息

别名

COL18A1、Collagen alpha-1(XVIII) chain、collagen type XVIII alpha 1 chain

+ [9]

简介

Potently inhibits endothelial cell proliferation and angiogenesis (PubMed:9459295). May inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling (By similarity). Inhibits VEGFA-induced endothelial cell proliferation and migration. Seems to inhibit VEGFA-mediated signaling by blocking the interaction of VEGFA to its receptor KDR/VEGFR2. Modulates endothelial cell migration in an integrin-dependent manner implicating integrin ITGA5:ITGB1 and to a lesser extent ITGAV:ITGB3 and ITGAV:ITGB5 (By similarity). May negatively regulate the activity of homotrimeric non-collagenous domain 1 (PubMed:11257123). Probably plays a major role in determining the retinal structure as well as in the closure of the neural tube. May regulate extracellular matrix-dependent motility and morphogenesis of endothelial and non-endothelial cells; the function requires homotrimerization and implicates MAPK signaling.

关联

100 项与 COL18A1 相关的临床结果

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100 项与 COL18A1 相关的转化医学

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0 项与 COL18A1 相关的专利（医药）

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229

项与 COL18A1 相关的文献（医药）

2025-04-01·Molecular Genetics & Genomic Medicine

Chinese Family With Knobloch Syndrome Associated With a Novel PAK2 Variant Leading to Reduced Phosphorylation Levels

Article

作者: Shen, Liwei ; Yang, Bin ; Wang, Xiaocui ; Ye, Xiaofei ; Song, Conglei

ABSTRACTBackgroundBiallelic variants of COL18A1 cause Knobloch syndrome (KNO), a rare genetic disorder, characterized by oculopathy and structural defects. Recently, several studies have suggested that novel de novo missense variants in PAK2 may be associated with KNO; however, there are few case reports. This study aimed to investigate a patient with KNO who initially presented with seizures and expand the PAK2 genotype and phenotype spectrum.MethodsThis study included a Chinese family with a proband who primarily presented with epilepsy and developmental delay. Whole‐exome sequencing and Sanger sequencing were performed to analyze potential variants. Structural modeling was performed to assess the impact of the variant on the protein structure. In vitro, a mutant plasmid was constructed and transfected into 293T cells to conduct phosphorylation assays, and phosphorylation levels at Ser141 of PAK2 were assessed. The PAK kinase inhibitor FRAX597 was used to confirm the specificity of the western blot results.ResultsA de novo variant of PAK2 gene, NM_002577.4: c.1049G>A (p.Arg350Lys) was found in the patient but not in his parents or sister. This variant was found to be located in the kinase domain and may alter the hydrogen‐bond network, potentially affecting kinase activity. In vitro functional experiments demonstrated that the variant may lead to reduced protein levels. Moreover, Western blot analysis showed a significant decrease in the phosphorylation level at Ser141 compared to the wild‐type plasmid, indicating that the variant may lead to decreased PAK2 phosphorylation levels.ConclusionThe clinical manifestations in this patient may be associated with a novel PAK2 variant, and the atypical presentation of KNO suggests that PAK2‐related KNO may have a broader phenotypic spectrum.

2025-04-01·Advanced Science

Large‐Scale Plasma Proteomics to Profile Pathways and Prognosis of Chronic Pain

Article

作者: Kang, Ju‐Jiao ; Hao, Qi‐Zheng ; Zhang, Jie ; Li, Yu‐Zhu ; Wang, Lin‐Bo ; Wu, Bang‐Sheng ; Feng, Jian‐Feng ; Ma, Qing ; Yin, Rui‐Ying ; You, Jia ; Wu, Xin‐Rui ; Yu, Jin‐Tai ; Shen, Chun ; Cheng, Wei ; Li, Ze‐Yu ; Deng, Yue‐Ting ; Tu, Yi‐Heng ; Xiao, Xiao

AbstractWhile increasing peripheral mechanisms related to chronic pain, the plasma proteomics profile associated with it and its prognosis remains elusive. This study utilizes 2923 plasma proteins and chronic pain of 51 644 participants from UK Biobank and finds 474 proteins linked to chronic pain in six sites: head, neck or shoulder, back, stomach or abdominal, hip, and knee, with 11 proteins sharing across pain sites. The identified proteins are largely enriched in immune and metabolic pathways and highly expressed in tissues like lungs and small intestines. Phenome‐wide analysis highlights the significance of pain‐related proteome on diverse facets of human health, and in‐depth Mendelian randomization validates 10 proteins (CD302, RARRES2, TNFRSF1B, BTN2A1, TNFRSF9, COL18A1, TNF, CD74, TNFRSF4, and BTN2A1) as markers of chronic pain. Furthermore, protein sets capable of classifying pain patients and healthy participants, particularly performing best in hip pain (area under curve, AUC = 0.725), are identified. Interestingly, the prediction of pain spreading over ten years achieves an AUC of 0.715, with leptin identified as a crucial predictor. This study delineates proteins associated with various pain conditions and identifies proteins capable of classifying pain and predicting pain spreading, offering benefits for both research and clinical practice.

2025-02-01·Apoptosis

Single-cell RNA sequencing analysis reveals the dynamic changes in the tumor microenvironment during NMIBC recurrence

Article

作者: Ou, Yuxi ; Hu, Jia ; Chen, Ziang ; Zhang, Jinhao ; Jiang, Haowen ; Zhang, Tianxiang ; Ye, Fangdie ; Li, Weijian ; Liu, Shenghua

BACKGROUNDDue to the clinical characteristic of frequent recurrence in urothelial bladder cancer (UBC), patients face significant health impacts and economic burdens. Therefore, understanding the molecular mechanisms involved in UBC recurrence is crucial for reducing its recurrence rate. The aim of our study is to help urologists and clinical researchers gain a deeper understanding of the changes in the tumor microenvironment (TME) during UBC recurrence.METHODSWe collected 10 samples from primary and recurrent non-muscle-invasive bladder cancer (NMIBC) and performed single-cell RNA sequencing. By distinguishing and annotating cell subpopulations, we identified tissue preferences of some novel cell subgroups. Next, pseudotime trajectory analysis, cell-cell communication analysis, and function enrichment analysis were applied to evaluate the dynamic changes in the TME and biological functions. Finally, we validated the distribution of some of these cell subgroups using multiplex immunofluorescence experiments.RESULTSWe identified a tumor-associated fibroblast (CAF) subtype with high COL18A1 expression that is highly expressed in recurrent NMIBC, suggesting that the stromal component of the tumor may play a crucial role in the recurrence process. Additionally, pseudotime trajectory analysis revealed a macrophage subtype with high IL-6 expression at the terminal stage of macrophage differentiation, exhibiting significant immunosuppressive features. This indicated the presence of immune exhaustion during NMIBC recurrence. Lastly, we found an upregulation of estrogen in recurrent urothelial cancer cells, which may partially explain the gender disparity observed in UBC.CONCLUSIONThis study identified several cell subpopulations influencing NMIBC recurrence, which were heavily infiltrated in the TME of recurrent NMIBC. Additionally, the enrichment of estrogen in urothelial cancer cells from various sources suggested a role of sex hormones in NMIBC recurrence.

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