DCTN1
Dynactin Subunit 1
Gene Information Card
| Symbol | DCTN1 |
|---|---|
| Full Name | Dynactin Subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.1 |
| NCBI Gene ID | 1639 ncbi.nlm.nih.gov/gene/1639 |
| Ensembl ID | ENSG00000137806 |
| UniProt ID | Q14203 |
| OMIM ID | 601143 |
| HGNC ID | 2711 |
| Aliases | p150-glued, DAP-150, DP-150 |
Description
DCTN1 encodes the largest subunit (p150glued) of dynactin, a multiprotein complex that activates cytoplasmic dynein for retrograde axonal transport. It links cargo to the microtubule motor and is essential for vesicle motility, mitotic spindle orientation, and neuronal survival. Mutations in DCTN1 cause autosomal dominant distal hereditary motor neuropathy (HMN7B), Perry syndrome, and amyotrophic lateral sclerosis (ALS).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Perry syndrome | Missense mutations in the CAP-Gly domain disrupt microtubule binding, impairing retrograde transport and leading to TDP-43 pathology | ClinVar, OMIM |
| Distal hereditary motor neuropathy type 7B (HMN7B) | Dominant mutations (e.g., G59S) reduce dynactin-dynein interaction, causing selective motor neuron degeneration | NCBI Gene, OMIM |
| Amyotrophic lateral sclerosis (ALS) | Rare variants in DCTN1 (e.g., R785W) impair axonal transport and increase susceptibility to motor neuron loss | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Spinal cord | 22.1 | High |
| Testis | 15.3 | Medium |
| Heart | 12.8 | Medium |
| Liver | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 32.4 | High expression |
| HeLa (cervical carcinoma) | 18.7 | Moderate expression |
| HEK293 (embryonic kidney) | 15.1 | Moderate expression |
| A549 (lung carcinoma) | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| G59S | Missense | Rare | Disrupts CAP-Gly domain, reduces microtubule binding; associated with HMN7B |
| F52L | Missense | Rare | Perry syndrome; impairs dynactin-dynein interaction |
| R785W | Missense | Rare | ALS; alters dynein binding and axonal transport |
| Q74P | Missense | Rare | Perry syndrome; reduces p150glued stability |
Mutation functional classification
Loss of Function (LOF)
Mutations in the CAP-Gly domain (e.g., G59S) reduce microtubule binding and impair retrograde transport, leading to motor neuron degeneration.
Gain of Function (GOF)
Not clearly established; some Perry syndrome mutations may cause toxic aggregation of p150glued.
Dominant Negative (DN)
Dominant mutations (e.g., G59S, F52L) interfere with wild-type dynactin function, disrupting dynein-mediated transport.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • dynein complex binding |
| • cytoskeletal motor activity | • retrograde axonal transport |
| • mitotic spindle organization |
Pathways
• Axonal transport (dynein-dynactin)
• Mitotic spindle assembly
• Endosome transport
Protein Summary
DCTN1 encodes p150glued, the largest subunit of dynactin. It contains an N-terminal CAP-Gly domain that binds microtubules and a C-terminal domain that interacts with dynein intermediate chain. The protein is critical for retrograde axonal transport, mitotic spindle positioning, and vesicle trafficking. Mutations cause neurodegenerative disorders by disrupting microtubule binding or dynein recruitment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCTN1 Knockout HEK293 Cell Line | EDJ-KQ4432 | Human | 1639 | Details Get a Quote |
| DCTN1 Knockout A-549 Cell Line | EDJ-KQ26977 | Human | 1639 | Details Get a Quote |
| DCTN1 Knockout HCT 116 Cell Line | EDJ-KQ26978 | Human | 1639 | Details Get a Quote |
| DCTN1 Knockout HeLa Cell Line | EDJ-KQ26979 | Human | 1639 | Details Get a Quote |
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