DCTN1 : dynactin subunit 1

Description

The DCTN1 (dynactin subunit 1) is a protein-coding gene located on chromosome 2.

The DCTN1 gene provides instructions for making a protein called dynactin-1. At least two different versions of this protein are produced in cells. The two versions differ in size; the larger version is called p150-glued, and the smaller version is called p135.Both versions of the dynactin-1 protein interact with several other proteins to form a group (a complex) of proteins called dynactin. The p150-glued version of dynactin-1 is the largest component (subunit) of the dynactin complex. This complex plays a critical role in cell division and the transport of materials within cells. To carry out these roles, the complex's p150-glued subunit attaches (binds) to a protein called dynein, which acts as a motor, and also binds to a track-like system of small tubes called microtubules. The dynactin complex, dynein, and microtubules work together like a conveyer belt to move materials within cells.Researchers believe that the dynactin complex is particularly important for the proper function of axons, which are specialized extensions of nerve cells (neurons). Axons transmit impulses from nerve to nerve and from nerves to muscles. Axons can be quite long; some are more than 3 feet in length. The dynactin complex is a critical part of a rapid transport system that supplies axons with materials to keep them healthy and functioning efficiently.

DCTN1 plays a crucial role in the transport of materials within cells, particularly in the movement of vesicles and organelles along microtubules. It acts as a bridge between dynein, microtubules, and cargo, ensuring efficient and directed transport. DCTN1 is involved in both the recruitment of dynein to cargo and its attachment to microtubules, enhancing the ability of dynein to move long distances along microtubules without detaching. DCTN1 can also act as a brake, slowing down dynein during movement. Beyond its role in transport, DCTN1 influences the stability of microtubules, promoting their formation and inhibiting their breakdown, particularly in neurons, thereby contributing to the structural integrity of axons. DCTN1 is also implicated in cell division, playing a role in the proper orientation of the metaphase spindle. Furthermore, DCTN1 is essential for the cohesion of centrioles and the formation of their subdistal appendages. Its recruitment to the centriole is critical for maintaining their structure and function. DCTN1 also participates in the formation of primary cilia. DCTN1 interacts with a diverse range of proteins, including dynein, microtubules, cargo adapters, and other regulatory proteins. These interactions contribute to its multifaceted roles in cellular processes.

DCTN1 is also known as DAP-150, DP-150, HMND14, P135.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing