dynein cytoplasmic 1 heavy chain 1

Summary
Gene Symbol
  • DYNC1H1
Organism
Homo sapiens (human)
NCBI Gene
1778
PubChem
1778
Alliance of Genome Resources
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
  • Reference proteome
  • Repeat
  • Transport
Proteins
Displaying 1 entry
UniProt Protein Name
Q14204
  • Cytoplasmic dynein heavy chain 1
  • Dynein heavy chain, cytosolic
Gene Ontology (GO)
GO Hierarchy
Displaying entries 1 - 5 of 13 in total
GO Term Evidence Code PMID
microtubule
dynein complex
membrane
cell cortex
extracellular region
GO Hierarchy
GO Hierarchy
Disease
Disease Ontology
Displaying all 8 entries
DO ID Disease Name Source
DOID:0050453 lissencephaly
DOID:0050557 congenital muscular dystrophy
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
DOID:10652 Alzheimer's disease
DOID:1289 neurodegenerative disease
DOID:1826 epilepsy

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024