Aliases for DYNC1H1 Gene
External Ids for DYNC1H1 Gene
Previous Symbols 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 mental retardation, autosomal dominant 13 and autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures. Among its related pathways are Class I MHC mediated antigen processing and presentation and Cell Cycle, Mitotic. GO annotations related to this gene include microtubule motor activity and ATPase activity, coupled. An important paralog of this gene is DNAH1.
UniProtKB/Swiss-Prot 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