DYNC1H1 Gene Summary [Human]
Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | DYNC1H1 |
| Official Name | dynein cytoplasmic 1 heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2961] |
| Ensembl ID | ENSG00000197102 |
| Bio databases IDs | |
| Aliases | dynein cytoplasmic 1 heavy chain 1 |
| Synonyms | 9930018I23RIK, CDCBM13, CMT2O, DHC1, DHC1a, DNCH1, Dnchc1, DNCL, Dnec1, DNECL, DYHC, dynein cytoplasmic 1 heavy chain 1, Dynein heavy chain, HL-3, Loa, MAP1C, mKIAA0325, P22, SMALED, SMALED1, SWL |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DYNC1H1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Dynein heavy chain C-terminal domain
- ATP-binding dynein motor region
- peptidase
- Microtubule-binding stalk of dynein motor
- protein binding
- identical protein binding
- Dynein heavy chain, N-terminal region 1
- P-loop containing dynein motor region
- Dynein heavy chain, N-terminal region 2
- P-loop containing dynein motor region D4
- Dynein heavy chain AAA lid domain
- AAA domain (dynein-related subfamily)
- Dynein heavy chain region D6 P-loop domain
- Hydrolytic ATP binding site of dynein motor region
- minus-end-directed kinesin ATPase
- P-loop containing Nucleoside Triphosphate Hydrolases
- ATPases associated with a variety of cellular activities
Pathways
Biological processes and signaling networks where the DYNC1H1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- mental retardation
- digenic short rib thoracic dysplasia 3/6 with polydactyly
- Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth disease axonal type 2O
- hereditary disorder
- autosomal dominant mental retardation type 13
- autosomal dominant lower extremity-predominant spinal muscular atrophy 1
- lung cancer
- lissencephaly
- metastasis
role in cell
- phosphorylation in
- apoptosis
- expression in
- translocation
- growth
- colony formation
- migration
- invasion by
- cell death
- frequency
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- detergent resistant lipid raft fraction
- extracellular vesicles
- azurophil granule lumen
- Extracellular Space
- cellular membrane
- manchette
- Nucleus
- vesicles
- centrosome
- microtubules
- cytosol
- nuclear envelope
- neurites
- filopodia
- perikaryon
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DYNC1H1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell division
- stress granule assembly
- regulation of metaphase plate congression
- mitotic spindle organization
- nuclear migration
- positive regulation of intracellular transport
- establishment of spindle localization
- cytoplasmic mRNA processing body assembly
- cytoplasmic microtubule organization
- regulation of mitotic spindle organization
- retrograde axon cargo transport
Cellular Component
Where in the cell the gene product is active
- cytoplasmic microtubule
- extracellular region
- microtubule
- cytoplasmic dynein complex
- centrosome
- extracellular vesicular exosome
- cell cortex
- membrane
- dynein complex
- filopodium
- cytosol
- azurophil granule lumen
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- protein binding
- RNA binding
- dynein light intermediate chain binding
- dynein intermediate chain binding
- minus-end-directed microtubule motor activity