DCTN1

Name

dynactin subunit 1

Type

protein-coding

Position

74,361,154–74,392,087 (−)

Aliases

DAP-150, DP-150, HMND14, P135

Ensembl

ENSG00000204843

RefSeq RNA

NM_001135040.3, NM_001135041.3, NM_001190836.2, NM_001190837.2, NM_001378991.1

RefSeq protein

NP_001128512.1, NP_001128513.1, NP_001177765.1, NP_001177766.1, NP_001365920.1

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].

via MyGene.info

Gene · Ensembl

dynactin subunit 1

Symbol

DCTN1

Biotype

Protein coding

Organism

Homo sapiens

Location

2:74,361,154-74,392,087

Strand

Reverse (−)

Assembly

GRCh38