DRC1
dynein regulatory complex subunit 1
- Ensembl:
- ENSG00000157856
- UniProt:
- Q96MC2
- OMIM:
- 615288
- Synonyms:
- C2ORF39, CCDC164, CILD21, FLJ32660, MGC16372
Cilia effects upon perturbation of DRC1
- Cilia number / % ciliated:
- Decreased cilia number
- Loss-of-function effect:
- Shorter cilia
Ciliogenesis screen results (1 screen)
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Phenotypes
- Mouse ciliopathy phenotype:
- male infertility
- Human ciliopathy phenotype:
- primary ciliary dyskinesia 21; primary ciliary dyskinesia
Ciliopathy associations
- Male Infertility
- Primary Ciliary Dyskinesia
Subcellular localization
cilia
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
- T cell biology
- Reproduction & sperm
- Cell migration & adhesion
- Cilia length regulation
Function
Structural component of the nexin-dynein regulatory complex (N-DRC), critical for regulation of the dynein motors. Its integrity is essential for the regulation of ciliary beat. Mutations are a cause for an autosomal recessive variant of primary ciliary dyskinesia (23354437). DRC1 and DRC2 form a subcomplex in the cytoplasm prior to assembly into the axoneme. DRC1 and DRC2 coassemble to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet (29167384). Loss of function of DRC1 may weaken the N鈥怐RC and its attachment to the peripheral , leading to axonemal microtubule disorganization (31960620). Shorter cilia length and reduced fluid-driving capability were consistent with the results observed in Drc1−/− mice.
Model organism evidence
The nexin-dynein regulatory complex (N-DRC) is a large protein complex composed of at least 11 subunits (DRC1-DRC11) and plays a crucial role in ciliary and flagellar motility.
Utilizing Drc1-4 and Drc7 knockout mice, this study systematically reveals the roles and assembly process of core N-DRC components in ependymal cilia, respiratory cilia, and sperm flagella.