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Gene : DCTN1 Homo sapiens

Name  ? dynactin subunit 1 Cytological Location  2p13.1
Brief Description  dynactin subunit 1
Description  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]
  • synonyms:
  • OTTHUMG00000129963,
  • p150 glued homolog (Drosophila),
  • P135,
  • uc002skw.2,
  • HGNC:2711,
  • NM_004082,
  • DCTN1,
  • DAP-150,
  • DP-150,
  • dynactin 1 (p150, Glued (Drosophila) homolog)
  • identifiers:
  • 1639,
  • ENSG00000204843,
  • DCTN1

Genome feature

Region: gene ? Length: 30934  
Location: 2:74361154-74392087 reverse strand Cyto location: 2p13.1


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Disease

3 Diseases

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321 SN Ps

5 Cross References

19 Data Sets

9 Homologues

0 Located Features

97 Rna Seq Results