The biological functions and pathological mechanisms of CASK in various diseases
Xingjing Liu1, Haonan Qin2, Yuanyuan Liu1
1Department of Endocrinology, The Affiliated Huaian No.1 People's Hospital of Nanjing Medical University, Huaian, 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.
Insights
Calcium/calmodulin-dependent serine protein kinase (CASK) is vital across many tissues, regulating neuronal development, insulin transport, and more. CASK gene mutations can lead to severe developmental issues or embryonic death.
Area of Science:
- Molecular Biology
- Genetics
- Cell Biology
Background:
- Calcium/calmodulin-dependent serine protein kinase (CASK) is a scaffold protein found in various tissues, including neurons, islets, heart, kidneys, and sperm.
- The CASK protein localizes to the cytoplasm near the basement membrane and exerts biological activity by binding to diverse proteins via its domains.
- The CASK gene is ubiquitously expressed, highlighting its fundamental role in cellular functions across the body.
Purpose of the Study:
- To review the multifaceted roles of CASK across various physiological systems.
- To elucidate the specific functions of CASK domains in neuronal development, neurotransmission, and cellular transport.
- To analyze the implications of CASK gene mutations and deletions on development and disease.
Main Methods:
- Literature review of studies on CASK function in different tissues.
- Analysis of CASK domain functions in neuronal development and synaptic processes.
- Examination of CASK's role in pancreatic islet beta cells, cardiac physiology, kidney, and sperm development.
- Comparative analysis of CASK's involvement in various tumor types.
Main Results:
- CASK plays a conserved role in the nervous system, regulating development and neurotransmitter release.
- CASK is involved in insulin vesicle transport in the endocrine system and ion channel regulation in cardiomyocytes.
- The gene is crucial for kidney and sperm development, and its dysregulation is linked to tumor proliferation.
Conclusions:
- CASK is an indispensable gene with critical functions across multiple organ systems.
- CASK mutations or deletions can result in severe adverse consequences, including fetal malformations and perinatal death.
- Understanding CASK's biological functions and pathological mechanisms provides a foundation for further research.
Related Concept Videos
01:24Caspases
01:16Calmodulin-dependent Signaling
The Ca2+-CaM complex does not have enzymatic activity by itself. Instead, the complex binds downstream target proteins, including membrane proteins or enzymes,...
01:22Lysosomal Hydrolases
01:30Assembly of Signaling Complexes
Interaction domains in cell signaling
Interaction domains recognize exposed features of their binding partners containing post-translationally modified sequences,...
01:02Role of Septins
Cellular Functions of Septins
Recent studies have revealed the multifaceted roles of septins in various cellular processes such as cytokinesis, ciliogenesis, and neurogenesis. Septins act as scaffolds and...
01:19Allosteric Proteins-ATCase
Aspartate transcarbamoylase (ATCase) is a cytosolic enzyme that catalyzes the condensation of L-aspartate and carbamoyl phosphate to N-carbamoyl-L-aspartate. This reaction is the first step in pyrimidine biosynthesis. UTP and CTP, the end products of the pyrimidine synthesis...