DCTN1 - dynactin subunit 1 Gene
Also Known as P135; DP-150; DAP-150
Species: Homo sapiens
About DCTN1
This gene has 28 transcripts (splice variants), 268 orthologues, 4 paralogues and is associated with 73 phenotypes. Ubiquitous expression in brain (RPKM 71.1), testis (RPKM 43.6) and 25 other tissues.
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). [provided by RefSeq, Oct 2008]
DCTN1 Products (8)
| mRNA | Protein | Name |
|---|---|---|
| NM_001135040.3 | NP_001128512.1 | dynactin subunit 1 isoform 3 |
| NM_001135041.3 | NP_001128513.1 | dynactin subunit 1 isoform 4 |
| NM_001190836.2 | NP_001177765.1 | dynactin subunit 1 isoform 5 |
| NM_001190837.2 | NP_001177766.1 | dynactin subunit 1 isoform 6 |
| NM_001378991.1 | NP_001365920.1 | dynactin subunit 1 isoform 7 |
| NM_001378992.1 | NP_001365921.1 | dynactin subunit 1 isoform 8 |
| NM_004082.5 | NP_004073.2 | dynactin subunit 1 isoform 1 |
| NM_023019.4 | NP_075408.1 | dynactin subunit 1 isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables microtubule binding |
IDA
IDA: Inferred from direct assay
|
23874158 | GOA |
| enables microtubule binding |
IMP
IMP: Inferred from mutant phenotype
|
16505168 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
9361024 | GOA |
| enables protein kinase binding |
IPI
IPI: Inferred from physical interaction
|
17139249 | GOA |
| enables tubulin binding |
IDA
IDA: Inferred from direct assay
|
23874158 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| colocalizes with cell cortex |
IDA
IDA: Inferred from direct assay
|
23509069 | GOA |
| located in cell cortex |
IDA
IDA: Inferred from direct assay
|
23027904 | GOA |
| located in cell cortex region |
IDA
IDA: Inferred from direct assay
|
22327364 | GOA |
| part of centriolar subdistal appendage |
IDA
IDA: Inferred from direct assay
|
23213374 | GOA |
| located in centriole |
IDA
IDA: Inferred from direct assay
|
23213374 | GOA |
| located in centrosome |
IDA
IDA: Inferred from direct assay
|
20719959 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
18305234 | GOA |
| located in kinetochore |
IDA
IDA: Inferred from direct assay
|
19468067 | GOA |
| located in microtubule |
IDA
IDA: Inferred from direct assay
|
21525035 | GOA |
| part of microtubule associated complex |
IMP
IMP: Inferred from mutant phenotype
|
16505168 | GOA |
| located in microtubule plus-end |
IDA
IDA: Inferred from direct assay
|
26972003 | GOA |
| located in neuron projection |
IDA
IDA: Inferred from direct assay
|
18364389 | GOA |
| located in neuronal cell body |
IDA
IDA: Inferred from direct assay
|
18364389 | GOA |
| located in nuclear envelope |
IDA
IDA: Inferred from direct assay
|
20679239 | GOA |
| part of retromer complex |
IDA
IDA: Inferred from direct assay
|
19619496 | GOA |
| located in spindle |
IDA
IDA: Inferred from direct assay
|
25774020 | GOA |
| located in spindle pole |
IDA
IDA: Inferred from direct assay
|
14718566 | GOA |
DCTN1 Protein Structure
CAP_GLY: CAP-Gly domain (29 - 94)
Dynactin: Dynein associated protein (526 - 805)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1200
- 1278 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
dynactin subunit 1 |
|
DCTN1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
DCTN1 | Q14203 | MAPRE1 | Homo sapiens | Q15691 | 17828277 | |
|
Intra
|
DCTN1 | Q14203 | MAPRE1 | Homo sapiens | Q15691 | 26638075 | |
|
Intra
|
DCTN1 | Q14203 | BBS4 | Homo sapiens | Q96RK4 | 18000879 | |
|
Intra
|
DCTN1 | Q14203 | BBS4 | Homo sapiens | Q96RK4 | 15107855 | |
|
Intra
|
DCTN1 | Q14203 | MAPT | Homo sapiens | P10636-8 | 17932487 | |
|
Intra
|
DCTN1 | Q14203 | MAPT | Homo sapiens | P10636-8 | 17932487 | |
|
Intra
|
DCTN1 | Q14203 | MAPT | Homo sapiens | P10636-8 | 17932487 | |
|
Intra
|
DCTN1 | Q14203 | MAPT | Homo sapiens | P10636-8 | 17932487 | |
|
Intra
|
DCTN1 | Q14203 | ACTR1B | Homo sapiens | P42025 | 33961781 | |
|
Intra
|
DCTN1 | Q14203 | ACTR1B | Homo sapiens | P42025 | 26638075 | |
|
Intra
|
DCTN1 | Q14203 | SNX6 | Homo sapiens | Q9UNH7 | 23524952 | |
|
Intra
|
DCTN1 | Q14203 | CLIP1 | Homo sapiens | P30622-1 | 17828277 | |
|
Intra
|
DCTN1 | Q14203 | CLIP1 | Homo sapiens | P30622-1 | 17828277 | |
|
Intra
|
DCTN1 | Q14203 | CLIP1 | Homo sapiens | P30622-1 | 17828277 | |
|
Intra
|
DCTN1 | Q14203 | CLIP1 | Homo sapiens | P30622-1 | 17828277 | |
|
Cross
|
DCTN1 | Q14203 | Hap1 | Rattus norvegicus | P54256 | 9361024 |
Recombinant DCTN1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P71542 | DCTN1 Protein, Human (His-SUMO) | Q14203 (P213-Q547) | ≥ 90%, as determined by reducing SDS-PAGE. |
DCTN1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81027 | Dynactin 1 Antibody (YA869) | WB, IP | Human |
| HY-P85427 | Dynactin 1 Antibody (YA5119) | WB, ICC/IF | Human, Mouse, Bovine, Pig |
| HY-P85488 | Dynactin 1(N-term) Antibody (YA5180) | WB, IP | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Perry Syndrome |
|
|
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Distal Hereditary Motor Neuropathy Type 7 |
|
|
| Genetic Motor Neuron Disease |
|
|
| Distal Hereditary Motor Neuronopathy Type 7 |
|
|
| Dctn1-Related Neurodegeneration |
|
|
| Frontotemporal Dementia |
|
|
| Motor Neuron Disease |
|
|
| Mental Depression |
|
|
| Respiratory Failure |
|
|
| Muscular Atrophy |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Lateral Sclerosis |
|
|
| Neuromuscular Disease |
|
|
| Parkinsonism |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
|
| Autosomal Dominant Distal Hereditary Motor Neuronopathy |
|
|
| Epithelioid Inflammatory Myofibroblastic Sarcoma |
|
|
| Motor Peripheral Neuropathy |
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
|
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
|
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
|
| Charcot-Marie-Tooth Disease And Deafness |
|
|
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
|
| Inflammatory Myofibroblastic Tumor |
|
|
| Hemochromatosis, Type 1 |
|
|
| Supranuclear Palsy, Progressive, 1 |
|
|
| Distal Hereditary Motor Neuronopathy Type 2 |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Bardet-Biedl Syndrome |
|
|
| Retinitis Pigmentosa |
|
|
| Movement Disease |
|
|
| Hereditary Spastic Paraplegia |
|
|
| Spinal Muscular Atrophy |
|
|
| Pick Disease Of Brain |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | DCTN1 | VGNC | VGNC:27928 |
| Mus musculus | DCTN1 | MGD | MGI:107745 |
| Canis familiaris | DCTN1 | VGNC | VGNC:39816 |
| Macaca mulatta | DCTN1 | VGNC | VGNC:101478 |
| Felis catus | DCTN1 | VGNC | VGNC:101456 |
| Rattus norvegicus | DCTN1 | RGD | RGD:62038 |
| Others | DCTN1 | NCBI |