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dynein cytoplasmic 1 heavy chain 1
Summary
- Gene Symbol
-
- DYNC1H1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- ATP-binding
- Acetylation
- Charcot-Marie-Tooth disease
- Coiled coil
- Cytoskeleton
- Disease variant
- Dynein
- Intellectual disability
- Microtubule
- Mitosis
- Motor protein
- Neurodegeneration
- Phosphoprotein
- Proteomics identification
- Reference proteome
- Repeat
- Transport
- Proteins
| UniProt | Protein Name |
|---|---|
| Q14204 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| mitotic spindle organization | ||
| mitotic spindle organization | ||
| nuclear migration | ||
| retrograde axonal transport | ||
| cytoplasmic microtubule organization |
GO Hierarchy
biological process
cellular process [inference]
biological regulation [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular region | ||
| centrosome | ||
| cytosol | ||
| cytoplasmic dynein complex | ||
| cytoplasmic dynein complex |
| GO Term | Evidence Code | PMID |
|---|---|---|
| RNA binding | ||
| protein binding | ||
| ATP binding | ||
| minus-end-directed microtubule motor activity | ||
| ATP hydrolysis activity |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- DYNEIN HEAVY CHAIN
- Functional Category
-
- J: Translation, ribosomal structure and biogenesis
- L: Replication, recombination and repair
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| ATP binding |
| dynein intermediate chain binding |
| dynein light intermediate chain binding |
| microtubule-based movement |
| minus-end-directed microtubule motor activity |
| nucleotide binding |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070043 | autosomal dominant intellectual developmental disorder 13 | |
| DOID:0070351 | spinal muscular atrophy with lower extremity predominant 1 | |
| DOID:0110175 | Charcot-Marie-Tooth disease axonal type 2O |
