PACSIN3

Last update 08 May 2025

Basic Info

Synonyms

PACSIN3, protein kinase C and casein kinase substrate in neurons 3, Protein kinase C and casein kinase substrate in neurons protein 3

+ [2]

Introduction

Plays a role in endocytosis and regulates internalization of plasma membrane proteins. Overexpression impairs internalization of SLC2A1/GLUT1 and TRPV4 and increases the levels of SLC2A1/GLUT1 and TRPV4 at the cell membrane. Inhibits the TRPV4 calcium channel activity (By similarity).

100 Clinical Results associated with PACSIN3

100 Translational Medicine associated with PACSIN3

0 Patents (Medical) associated with PACSIN3

Literatures (Medical) associated with PACSIN3

05 Jul 2024·Brain

Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia

Letter

Author: Talim, Beril ; Haack, Tobias B ; Sezer, Abdullah ; Schara-Schmidt, Ulrike ; Gangfuß, Andrea ; Nikolin, Stefan ; Weis, Joachim ; Seibt, Annette ; Waldmüller, Stephan ; Yuksel, Deniz ; Helm, Christina ; Kölbel, Heike ; Distelmaier, Felix ; Roos, Andreas ; Mayatepek, Ertan

01 Jul 2024·Immunity, Inflammation and Disease

Identification and role of differentially expressed genes/proteins between pulmonary tuberculosis patients and controls across lung tissues and blood samples

Article

Author: Li, Qifeng ; Maierheba, Kuerbanjiang

AbstractBackgroundDifferentially expressed genes/proteins (DEGs/DEPs) play critical roles in pulmonary tuberculosis (PTB) diagnosis and treatment. However, there is a scarcity of reports on DEGs/DEPs in lung tissues and blood samples in PTB patients.ObjectiveWe aim to identify the DEGs/DEPs in lung tissues and blood samples of PTB patients and investigate their roles in PTB.Materials and MethodsThe lung granulomas and normal tissues were collected from PTB patients for proteomic and transcriptomic analyses. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses annotated the functions of DEGs/DEPs. The GSE107994 data set was downloaded to identify the DEGs/DEPs in peripheral blood. The common DEGs and DEPs were identified. A nomogram was established. Pearson correlation analysis was conducted.ResultsEighty‐three DEGs/DEPs were identified. These DEGs/DEPs were mainly enriched in the movement of cell or subcellular components, regulation of cellular component biogenesis, and actin filament‐based process as well as in the pathways of inositol phosphate metabolism, adherens junction, phosphatidylinositol signaling system, leukocyte transendothelial migration, regulation of actin cytoskeleton, and tight junction. There were eight common DEGs/DEPs (TYMP, LAP3, ADGRL2, SIL1, LMO7, SULF 1, ANXA3, and PACSIN3) between the lung tissues and blood samples. They were effective in predicting tuberculosis. Moreover, the activated dendritic cells, macrophages, monocytes, neutrophils, and regulatory T cells were significantly positively correlated with TYMP (r > .50), LAP3 (r > .50), SIL1 (r > .50), ANXA3 (r > .5), and PACSIN3 (r < .50), while negatively correlated with LMO7 (r < −0.50) (p < .05). ADGRL2 and SULF1 did not have a significant correlation (p > .05).LimitationsThe sample size was small.ConclusionsEight common DEGs/DEPs of lung tissues and blood samples were identified. They were correlated with immune cells and demonstrated predictive value for PTB. Our data may facilitate the diagnosis and treatment of PTB.

01 Dec 2022·Translational Oncology

Identification of a 5-gene-based signature to predict prognosis and correlate immunomodulators for rectal cancer

Article

Author: Qiang, Ji ; Chunna, Yu ; Wenbin, Li ; Wenmao, Yan ; Yi, Lin ; Jianwei, Zheng ; Yi, Zheng ; Parker, Li ; Rixing, Bai ; Xiaomin, Wang ; Xun, Kang ; Yichen, Peng

BACKGROUNDSpecific tumor markers have yet to be identified in rectal cancer. This study aims to identify a novel genetic signature in rectal cancer to provide clues for survival and immunotherapy.METHODSDEGs were obtained from two GEO datasets of rectal cancer. By using data from TCGA and GSE133057, two cohorts of rectal cancer were applied to establish and evaluate the signature. A nomogram was constructed for training and validation. We integrated the risk-score with clinicopathological features and assessed its interplay with immune cells and molecules. Finally, our study performed functional annotations, gene-targeted miRNAs, and single-cell analysis.RESULTSA total of 468 DEGs were identified, and a signature consisting of 5 genes (CLIC5, ENTPD8, PACSIN3, HGD, and GNG7) was selected to calculate the risk-score. The model exhibited high performance in time-dependent ROC and a nomogram. Further results showed that overall survival was significantly worse in the high-risk group. As an independent prognostic factor, the risk-score was associated with vascular invasion. There was a dramatic difference in nonregulatory CD4⁺ and CD8⁺ T cells between the high and low-risk groups, and the 5 genes were correlated with immune inhibitors. There was a considerable difference in autophagy, immune, cell cycle, infection, and apoptosis-associated terms and pathways in GO and KEGG. The functional states of differentiation, apoptosis, and quiescence were closely related to the 5-gene signature in single-cell analysis.CONCLUSIONOur results suggest that the signature could serve as a novel prognostic biomarker in rectal cancer, which might benefit decision-making regarding immunotherapy.

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