RCC1
regulator of chromosome condensation 1
- Ensembl:
- ENSG00000180198
- UniProt:
- P18754
- OMIM:
- 179710
- Synonyms:
- CHC1
Cilia effects upon perturbation of RCC1
Ciliogenesis screen results (2 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.56) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Phenotypes
- Mouse phenotype:
- preweaning lethality; complete penetrance; embryonic lethality prior to organogenesis
Ciliopathy associations
- Renal-hepatic-pancreatic Dysplasia
Subcellular localization
basal body, cilia, nucleoplasm
Functional category
- Small GTPases; Metabolism
Function
RCC1 domain localized to centrosomes and cilia, while the kinase domain alone, despite being active, did not . A model for how activity regulates Nek8 localization based on the hypothesis that autophosphorylation within the non-catalytic RCC1-like domain is required to expose a ciliary-targeting site present within this domain (PMID: 22106379).
Model organism evidence
Mus musculus (3 references)
NPHP is characterized by abnormal and/or loss of function of proteins associated with primary cilia.
The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis.