Aliases for DCTN1 Gene
External Ids for DCTN1 Gene
Previous GeneCards Identifiers for DCTN1 Gene
This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008]
GeneCards Summary for DCTN1 Gene
DCTN1 (Dynactin Subunit 1) is a Protein Coding gene. Diseases associated with DCTN1 include Perry Syndrome and Neuropathy, Distal Hereditary Motor, Type Viib. Among its related pathways are Vasopressin-regulated water reabsorption and N-cadherin signaling events. GO annotations related to this gene include motor activity and cofactor binding. An important paralog of this gene is CLIP1.
UniProtKB/Swiss-Prot for DCTN1 Gene
Required for the cytoplasmic dynein-driven retrograde movement of vesicles and organelles along microtubules. Dynein-dynactin interaction is a key component of the mechanism of axonal transport of vesicles and organelles.