InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DCTN1

Summary

InnateDB Protein

IDBP-57207.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DCTN1

Protein Name

dynactin 1

Synonyms

DAP-150; DP-150; P135;

Species

Homo sapiens

Ensembl Protein

ENSP00000354791

InnateDB Gene

IDBG-57205 (DCTN1)

Protein Structure

UniProt Annotation

Function

Required for the cytoplasmic dynein-driven retrograde movement of vesicles and organelles along microtubules. Dynein- dynactin interaction is a key component of the mechanism of axonal transport of vesicles and organelles.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:17828277}. Cytoplasm, cytoskeleton {ECO:0000269PubMed:17828277}. Note=Colocalizes with microtubules.

Disease Associations

Neuronopathy, distal hereditary motor, 7B (HMN7B) [MIM:607641]: A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. {ECO:0000269PubMed:12627231}. Note=The disease is caused by mutations affecting the gene represented in this entry.Amyotrophic lateral sclerosis (ALS) [MIM:105400]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5- 10% of the cases. {ECO:0000269PubMed:15326253, ECO:0000269PubMed:16240349}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Perry syndrome (PERRYS) [MIM:168605]: A neuropsychiatric disorder characterized by mental depression not responsive to antidepressant drugs or electroconvulsive therapy, sleep disturbances, exhaustion and marked weight loss. Parkinsonism develops later and respiratory failure occurred terminally. {ECO:0000269PubMed:19136952}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Brain.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 111 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.

Experimentally validated
Total	111 [view]
Protein-Protein	111 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	9 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003774	motor activity
GO:0005515	protein binding
GO:0016740	transferase activity
GO:0045502	dynein binding
GO:0048037	cofactor binding

Biological Process

GO:0000086	G2/M transition of mitotic cell cycle
GO:0000278	mitotic cell cycle
GO:0006987	activation of signaling protein activity involved in unfolded protein response
GO:0007067	mitotic nuclear division
GO:0007399	nervous system development
GO:0008219	cell death
GO:0010970	microtubule-based transport
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0030968	endoplasmic reticulum unfolded protein response
GO:0032402	melanosome transport
GO:0044267	cellular protein metabolic process

Cellular Component

GO:0000776	kinetochore
GO:0000922	spindle pole
GO:0005737	cytoplasm
GO:0005813	centrosome
GO:0005829	cytosol
GO:0005869	dynactin complex
GO:0005874	microtubule
GO:0016020	membrane
GO:0030286	dynein complex
GO:0031252	cell leading edge
GO:0043234	protein complex

Protein Structure and Domains

PDB ID

InterPro

IPR000938 CAP Gly-rich domain
IPR015083 Polyketide synthase, docking domain
IPR022157 Dynein associated protein
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF01302
PF08990
PF12455

PRINTS

PIRSF

SMART

SM01052

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q14203