The biological functions and pathological mechanisms of CASK in various diseases
Background: As a scaffold protein, calcium/calmodulin-dependent serine protein kinase (CASK) has been extensively studied in a variety of tissues throughout the body. The Cask gene is ubiquitous in several tissues, such as the neurons, islets, heart, kidneys and sperm, and is mostly localised in the...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-04-01
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| Series: | Heliyon |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844024048941 |
| _version_ | 1797210014201413632 |
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| author | Xingjing Liu Haonan Qin Yuanyuan Liu Jingjing Ma Yiming Li Yu He Huimin Zhu Li Mao |
| author_facet | Xingjing Liu Haonan Qin Yuanyuan Liu Jingjing Ma Yiming Li Yu He Huimin Zhu Li Mao |
| author_sort | Xingjing Liu |
| collection | DOAJ |
| description | Background: As a scaffold protein, calcium/calmodulin-dependent serine protein kinase (CASK) has been extensively studied in a variety of tissues throughout the body. The Cask gene is ubiquitous in several tissues, such as the neurons, islets, heart, kidneys and sperm, and is mostly localised in the cytoplasm adjacent to the basement membrane. CASK binds to a variety of proteins through its domains to exerting its biological activity. Scope of review: Here, we discuss the role of CASK in multiple tissues throughout the body. The role of different CASK domains in regulating neuronal development, neurotransmitter release and synaptic vesicle secretion was emphasised; the regulatory mechanism of CASK on the function of pancreatic islet β cells was analysed; the role of CASK in cardiac physiology, kidney and sperm development was discussed; and the role of CASK in different tumours was compared. Finally, we clarify the importance of the Cask gene in the body, and how deletion or mutation of the Cask gene can have adverse consequences. Major conclusions: CASK is a conserved gene with similar roles in various tissues. The function of the Cask gene in the nervous system is mainly involved in the development of the nervous system and the release of neurotransmitters. In the endocrine system, an involvement of CASK has been reported in the process of insulin vesicle transport. CASK is also involved in cardiomyocyte ion channel regulation, kidney and sperm development, and tumour proliferation. CASK is an indispensable gene for the whole body, and CASK mutations can cause foetal malformations or death at birth. In this review, we summarise the biological functions and pathological mechanisms of CASK in various systems, thereby providing a basis for further in-depth studies of CASK functions. |
| first_indexed | 2024-04-24T10:03:51Z |
| format | Article |
| id | doaj.art-202b090a76d94eb8b430ca3b377fec50 |
| institution | Directory Open Access Journal |
| issn | 2405-8440 |
| language | English |
| last_indexed | 2024-04-24T10:03:51Z |
| publishDate | 2024-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Heliyon |
| spelling | doaj.art-202b090a76d94eb8b430ca3b377fec502024-04-13T04:21:28ZengElsevierHeliyon2405-84402024-04-01108e28863The biological functions and pathological mechanisms of CASK in various diseasesXingjing Liu0Haonan Qin1Yuanyuan Liu2Jingjing Ma3Yiming Li4Yu He5Huimin Zhu6Li Mao7Department of Endocrinology, The Affiliated Huaian No.1 People’s Hospital of Nanjing Medical University, Huaian, Jiangsu Province, ChinaDepartment of Orthopedics, The Affiliated Huaian No.1 People’s Hospital of Nanjing Medical University, Huaian, Jiangsu Province, ChinaDepartment of Endocrinology, The Affiliated Huaian No.1 People’s Hospital of Nanjing Medical University, Huaian, Jiangsu Province, ChinaDepartment of Endocrinology, The Affiliated Huaian No.1 People’s Hospital of Nanjing Medical University, Huaian, Jiangsu Province, ChinaDepartment of Endocrinology, The Affiliated Huaian No.1 People’s Hospital of Nanjing Medical University, Huaian, Jiangsu Province, ChinaDepartment of Endocrinology, The Affiliated Huaian No.1 People’s Hospital of Nanjing Medical University, Huaian, Jiangsu Province, ChinaDepartment of Electrophysiology, The Affiliated Huaian No.1 People’s Hospital of Nanjing Medical University, Huaian, Jiangsu Province, ChinaDepartment of Endocrinology, The Affiliated Huaian No.1 People’s Hospital of Nanjing Medical University, Huaian, Jiangsu Province, China; Corresponding author. The Affiliated Huaian No.1 People’s Hospital of Nanjing Medical University, Huanghe West Road, Huaiyin District, Huai'an City, Jiangsu Province, China.Background: As a scaffold protein, calcium/calmodulin-dependent serine protein kinase (CASK) has been extensively studied in a variety of tissues throughout the body. The Cask gene is ubiquitous in several tissues, such as the neurons, islets, heart, kidneys and sperm, and is mostly localised in the cytoplasm adjacent to the basement membrane. CASK binds to a variety of proteins through its domains to exerting its biological activity. Scope of review: Here, we discuss the role of CASK in multiple tissues throughout the body. The role of different CASK domains in regulating neuronal development, neurotransmitter release and synaptic vesicle secretion was emphasised; the regulatory mechanism of CASK on the function of pancreatic islet β cells was analysed; the role of CASK in cardiac physiology, kidney and sperm development was discussed; and the role of CASK in different tumours was compared. Finally, we clarify the importance of the Cask gene in the body, and how deletion or mutation of the Cask gene can have adverse consequences. Major conclusions: CASK is a conserved gene with similar roles in various tissues. The function of the Cask gene in the nervous system is mainly involved in the development of the nervous system and the release of neurotransmitters. In the endocrine system, an involvement of CASK has been reported in the process of insulin vesicle transport. CASK is also involved in cardiomyocyte ion channel regulation, kidney and sperm development, and tumour proliferation. CASK is an indispensable gene for the whole body, and CASK mutations can cause foetal malformations or death at birth. In this review, we summarise the biological functions and pathological mechanisms of CASK in various systems, thereby providing a basis for further in-depth studies of CASK functions.http://www.sciencedirect.com/science/article/pii/S2405844024048941CASKNervous systemDiabetesTumourGenetic mutations |
| spellingShingle | Xingjing Liu Haonan Qin Yuanyuan Liu Jingjing Ma Yiming Li Yu He Huimin Zhu Li Mao The biological functions and pathological mechanisms of CASK in various diseases Heliyon CASK Nervous system Diabetes Tumour Genetic mutations |
| title | The biological functions and pathological mechanisms of CASK in various diseases |
| title_full | The biological functions and pathological mechanisms of CASK in various diseases |
| title_fullStr | The biological functions and pathological mechanisms of CASK in various diseases |
| title_full_unstemmed | The biological functions and pathological mechanisms of CASK in various diseases |
| title_short | The biological functions and pathological mechanisms of CASK in various diseases |
| title_sort | biological functions and pathological mechanisms of cask in various diseases |
| topic | CASK Nervous system Diabetes Tumour Genetic mutations |
| url | http://www.sciencedirect.com/science/article/pii/S2405844024048941 |
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