InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DYNC1H1

Summary

InnateDB Protein

IDBP-20704.6

Last Modified

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

Gene Symbol

DYNC1H1

Protein Name

dynein, cytoplasmic 1, heavy chain 1

Synonyms

DHC1; DHC1a; DNCH1; Dnchc1; DNCL; DNECL; DYHC; HL-3; p22; SMALED1;

Species

Homo sapiens

Ensembl Protein

ENSP00000348965

InnateDB Gene

IDBG-20700 (DYNC1H1)

Protein Structure

UniProt Annotation

Function

Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP.

Subcellular Localization

Cytoplasm, cytoskeleton.

Disease Associations

Charcot-Marie-Tooth disease 2O (CMT2O) [MIM:614228]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269PubMed:21820100}. Note=The disease is caused by mutations affecting the gene represented in this entry.Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD13 is associated with variable neuronal migration defects and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait and hyporeflexia. {ECO:0000269PubMed:21076407, ECO:0000269PubMed:22368300, ECO:0000269PubMed:23033978, ECO:0000269PubMed:23603762}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600]: A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMALED1 is characterized by muscle weakness predominantly affecting the proximal lower extremities. {ECO:0000269PubMed:22459677, ECO:0000269PubMed:22847149}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 126 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.

Experimentally validated
Total	126 [view]
Protein-Protein	126 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	11 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003777	microtubule motor activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016887	ATPase activity
GO:0044822	poly(A) RNA binding
GO:0051959	dynein light intermediate chain binding

Biological Process

GO:0000086	G2/M transition of mitotic cell cycle
GO:0000278	mitotic cell cycle
GO:0006200	ATP catabolic process
GO:0006810	transport
GO:0007018	microtubule-based movement
GO:0007052	mitotic spindle organization
GO:0008219	cell death
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0033962	cytoplasmic mRNA processing body assembly
GO:0034063	stress granule assembly

Cellular Component

GO:0005737	cytoplasm
GO:0005813	centrosome
GO:0005829	cytosol
GO:0005868	cytoplasmic dynein complex
GO:0005874	microtubule
GO:0016020	membrane
GO:0030175	filopodium
GO:0030286	dynein complex
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR003593 AAA+ ATPase domain
IPR004273 Dynein heavy chain domain
IPR010987 Glutathione S-transferase, C-terminal-like
IPR011704 ATPase, dynein-related, AAA domain
IPR012336 Thioredoxin-like fold
IPR013594 Dynein heavy chain, domain-1
IPR013602 Dynein heavy chain, domain-2
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM