Entrez Summary: 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 subunit of the human cytoplasmic dynein-2 complex. Mutations in this gene are associated with short-rib thoracic dysplasia 17 with or without polydactyly. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017].
UniProt Summary: Required for proper retrograde ciliary transport. {ECO:0000269|PubMed:26044572}.
Pfam DomainsGO Terms
Pfam Domains
Tctex-1
GO Terms
regulation of intraciliary retrograde transport
interphase microtubule organizing center
cytoplasmic dynein complex
dynein intermediate chain binding
regulation of microtubule-based movement
ciliary base
regulation of cilium assembly
axoneme
spindle pole
regulation of plasma membrane bounded cell projection assembly
regulation of cell projection assembly
regulation of organelle assembly
regulation of microtubule-based process
regulation of intracellular protein transport
cilium assembly
regulation of intracellular transport
cilium organization
plasma membrane bounded cell projection assembly
cell projection assembly
centrosome
regulation of cellular protein localization
regulation of plasma membrane bounded cell projection organization
regulation of protein transport
regulation of cell projection organization
regulation of peptide transport
regulation of establishment of protein localization