Gene: DCTN1

Alternate names for this Gene: DAP-150|DP-150|P135

Gene Summary: 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).

Gene is located in Chromosome: 2

Location in Chromosome : 2p13.1

Description of this Gene: dynactin subunit 1

Type of Gene: protein-coding

rs121909342 in DCTN1 gene and AMYOTROPHIC LATERAL SCLEROSIS 1 PMID 27573046 2016 Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation.

PMID 23143281 2013 The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes.

PMID 18364389 2008 Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin.

PMID 12627231 2003 Mutant dynactin in motor neuron disease.

PMID 18094236 2007 The G59S mutation in p150(glued) causes dysfunction of dynactin in mice.

PMID 16505168 2006 A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation.

PMID 19279216 2009 Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration.

PMID 16240349 2005 Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD.

PMID 15326253 2004 Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.

PMID 17653917 2007 Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group.

PMID 16324086 2005 EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives.

PMID 21914052 2012 EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.

rs121909342 in DCTN1 gene and Neuronopathy, Distal Hereditary Motor, Type Viib PMID 18364389 2008 Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin.

PMID 19279216 2009 Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration.

PMID 19136952 2009 DCTN1 mutations in Perry syndrome.

PMID 27573046 2016 Codon 59 appears to be the mutational hot spot in the DCTN1 gene, as all described dHMN7B patients to date have harbored an identical p.G59S mutation.

PMID 22777741 2012 Tubulin-binding cofactor B is a direct interaction partner of the dynactin subunit p150(Glued).

PMID 18094236 2007 The G59S mutation in p150(glued) causes dysfunction of dynactin in mice.

PMID 12627231 2003 Mutant dynactin in motor neuron disease.

PMID 16505168 2006 A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation.

PMID 23143281 2013 The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes.

rs121909342 in DCTN1 gene and Perry Syndrome PMID 12627231 2003 Mutant dynactin in motor neuron disease.

PMID 23143281 2013 The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes.

PMID 16505168 2006 A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation.

PMID 18094236 2007 The G59S mutation in p150(glued) causes dysfunction of dynactin in mice.

PMID 27573046 2016 Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation.

PMID 19279216 2009 Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration.

PMID 18364389 2008 Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin.

PMID 25185702 2014 Dynactin functions as both a dynamic tether and brake during dynein-driven motility.

PMID 23874158 2013 Dynactin subunit p150(Glued) is a neuron-specific anti-catastrophe factor.

PMID 24676999 2014 A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy.

PMID 26972003 2016 α-Tubulin Tyrosination and CLIP-170 Phosphorylation Regulate the Initiation of Dynein-Driven Transport in Neurons.

PMID 19136952 2009 DCTN1 mutations in Perry syndrome.

PMID 24881494 2014 Three families with Perry syndrome from distinct parts of the world.