CEP131: A Potential Drug Target and Biomarker for Central Endomphalic Proteins

Target Name: CEP131

NCBI ID: G22994

CEP131: A Potential Drug Target and Biomarker for Central Endomphalic Proteins

Introduction

Centrosomal protein 131 (CEP131) is a protein that is expressed in various tissues, including the brain, heart, and skeletal muscles. Its primary function is to form the centrosome, which is a structural protein complex that plays a crucial role in the organization and stability of microtubules in eukaryotic cells. Mutations in CEP131 have been linked to various neurological and developmental disorders, making it an attractive drug target and biomarker. In this article, we will explore CEP131 as a potential drug target and biomarker.

CEP131: Structure and Function

The CEP131 protein is composed of 154 amino acids and has a calculated molecular mass of 19.9 kDa. It consists of a cytoplasmic domain, a transmembrane domain, and an N-terminus. The cytoplasmic domain is responsible for the protein's stability and functions as a cytoplasmic protein. The transmembrane domain is involved in the protein's interactions with various cellular signaling pathways. The N-terminus is the protein's cytoplasmic tail, which is involved in the formation of the centrosome.

CEP131 is a key component of the centrosome, which is a protein complex that plays a central role in the organization and stability of microtubules in eukaryotic cells. The centrosome is composed of several subunits, including CEP131, CEP132, and CEP133. These subunits are held together by disulfide bonds, and the formation of the centrosome is regulated by various factors, including the exchange of ATP-dependent capture factor (APC) proteins.

CEP131 has been shown to play a critical role in the regulation of microtubule dynamics and stability. Several studies have demonstrated that CEP131 is involved in the assembly and disassembly of microtubules. For instance, CEP131 has been shown to interact with the protein kinase B (PKB ), which is involved in the regulation of microtubule stability. This interaction between CEP131 and PKB suggests that CEP131 may be a potential drug target for the treatment of microtubule-related disorders.

Expression and Disease

CEP131 is expressed in various tissues, including the brain, heart, and skeletal muscles. It is highly expressed in the brain, where it is found in the postsynaptic density of dendrites, the perikytonial matrix, and in the endoplasmic reticulum. CEP131 is also expressed in heart and skeletal muscles, where it is involved in the regulation of muscle contractions.

Mutations in CEP131 have been linked to various neurological and developmental disorders. For example, a missense mutation in the CEP131 gene has been shown to cause a neurodegenerative disorder called transgenic Kentaro syndrome (TKP). TKP is a rare inherited disorder that is characterized by the progressive loss of motor neurons and other central nervous system (CNS) cells. The missense mutation in CEP131 has been shown to cause a loss of CEP131 protein and disrupt the normal function of the centrosome.

Another study has also shown that a double mutation in the CEP131 gene has been associated with a developmental disorder called rotazoid disease (RCD). RCD is a rare inherited disorder that is characterized by the progressive loss of muscle cells and other tissues in the CNS. The double mutation in CEP131 has been shown to cause a loss of CEP131 protein and disrupt the normal function of the centrosome.

Drug Targeting

Based on the results of these studies, CEP131 is an attractive drug target for the treatment of neurodegenerative disorders. The disruption of CEP131

Protein Name: Centrosomal Protein 131

Functions: Component of centriolar satellites contributing to the building of a complex and dynamic network required to regulate cilia/flagellum formation (PubMed:17954613, PubMed:24185901). In proliferating cells, MIB1-mediated ubiquitination induces its sequestration within centriolar satellites, precluding untimely cilia formation initiation (PubMed:24121310). In contrast, during normal and ultraviolet or heat shock cellular stress-induced ciliogenesis, its non-ubiquitinated form is rapidly displaced from centriolar satellites and recruited to centrosome/basal bodies in a microtubule- and p38 MAPK-dependent manner (PubMed:24121310, PubMed:26616734). Acts also as a negative regulator of BBSome ciliary trafficking (PubMed:24550735). Plays a role in sperm flagellar formation; may be involved in the regulation of intraflagellar transport (IFT) and/or intramanchette (IMT) trafficking, which are important for axoneme extension and/or cargo delivery to the nascent sperm tail (By similarity). Required for optimal cell proliferation and cell cycle progression; may play a role in the regulation of genome stability in non-ciliogenic cells (PubMed:22797915, PubMed:26297806). Involved in centriole duplication (By similarity). Required for CEP152, WDR62 and CEP63 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:26297806). Essential for maintaining proper centriolar satellite integrity (PubMed:30804208)

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