dynactin 1 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. Defects in DCTN1 are the cause of distal hereditary motor neuronopathy type 7B (HMN7B); also known as progressive lower motor neuron disease (PLMND). HMN7B is a neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. Defects in DCTN1 are a cause of susceptibility to amyotrophic lateral sclerosis (ALS). ALS is a neurodegenerative disorder affecting upper and lower motor neurons, and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology is likely to be multifactorial, involving both genetic and environmental factors. Defects in DCTN1 are the cause of Perry syndrome (PERRYS); also called parkinsonism with alveolar hypoventilation and mental depression. Perry syndrome is a neuropsychiatric disorder characterized by mental depression not responsive to antidepressant drugs or electroconvulsive therapy, sleep disturbances, exhaustion and marked weight loss. Parkinsonism develops later and respiratory failure occurred terminally. Belongs to the dynactin 150 kDa subunit family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Microtubule-binding; Motility/polarity/chemotaxis; Motor
Chromosomal Location of Human Ortholog: 2p13.1
Cellular Component:  axon; cell cortex; cell cortex region; centriolar subdistal appendage; centriole; centrosome; cytoplasm; cytosol; dynactin complex; dynein complex; intermediate filament cytoskeleton; kinetochore; microtubule; microtubule associated complex; microtubule plus-end; neuron projection; neuronal cell body; nuclear envelope; spindle; spindle pole
Molecular Function:  dynein complex binding; microtubule binding; motor activity; protein binding; protein kinase binding; tau protein binding; tubulin binding
Biological Process:  antigen processing and presentation of exogenous peptide antigen via MHC class II; cell division; centriole-centriole cohesion; ciliary basal body-plasma membrane docking; ER to Golgi vesicle-mediated transport; establishment of mitotic spindle orientation; G2/M transition of mitotic cell cycle; IRE1-mediated unfolded protein response; maintenance of synapse structure; microtubule anchoring at centrosome; mitotic cell cycle; motor behavior; nervous system development; neuromuscular junction development; neuromuscular process; neuron cellular homeostasis; neuron projection maintenance; non-motile cilium assembly; nuclear envelope disassembly; positive regulation of microtubule nucleation; positive regulation of microtubule polymerization; positive regulation of neuromuscular junction development; regulation of G2/M transition of mitotic cell cycle; regulation of mitotic spindle organization; retrograde transport, endosome to Golgi; ventral spinal cord development
Disease: Amyotrophic Lateral Sclerosis 1; Neuronopathy, Distal Hereditary Motor, Type Viib; Perry Syndrome
Reference #:  Q14203 (UniProtKB)
Alt. Names/Synonyms: 150 kDa dynein-associated polypeptide; DAP-150; DCTN1; DP-150; dynactin 1; dynactin 1 (p150, glued homolog, Drosophila); Dynactin subunit 1; HMN7B; p135; p150, Glued homolog; p150-glued
Gene Symbols: DCTN1
Molecular weight: 141,695 Da
Basal Isoelectric point: 5.61  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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dynactin 1

Protein Structure Not Found.

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