Aliases for DYNC1H1 Gene
External Ids for DYNC1H1 Gene
Previous HGNC Symbols for DYNC1H1 Gene
Previous GeneCards Identifiers for DYNC1H1 Gene
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]
GeneCards Summary for DYNC1H1 Gene
DYNC1H1 (Dynein Cytoplasmic 1 Heavy Chain 1) is a Protein Coding gene. Diseases associated with DYNC1H1 include Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant and Charcot-Marie-Tooth Disease, Axonal, Type 2O. Among its related pathways are Regulation of degradation of deltaF508 CFTR in CF and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include microtubule motor activity. An important paralog of this gene is DYNC2H1.
UniProtKB/Swiss-Prot Summary for DYNC1H1 Gene
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. Plays a role in mitotic spindle assembly and metaphase plate congression (PubMed:27462074).