RSPH3
radial spoke head 3
- Ensembl:
- ENSG00000130363
- UniProt:
- Q86UC2
- OMIM:
- 615876
- Synonyms:
- DJ111C20.1, RSHL2, RSP3
Cilia effects upon perturbation of RSPH3
Ciliogenesis screen results (2 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Phenotypes
- Human ciliopathy phenotype:
- primary ciliary dyskinesia
Ciliopathy associations
- Male Infertility
- Primary Ciliary Dyskinesia
Subcellular localization
cilia
Functional category
- Ciliary assembly/disassembly
Function
Protein ki se A-anchoring protein that scaffolds the cAMP-dependent protein ki se holoenzyme (19684019). Mutations are associated with PCD, with CC/RS defects like abnormal axoneme configuration and absence of RS. Required for proper building of RSs and the CC in humans (26073779). Mutations in RSPH3 in Chlamydomo s reinhardtii lead to paralyzed flagella due to loss of the entire radial spoke structure (29475374).
Model organism evidence
Mus musculus (1 reference)
We found that LRRC23 localizes to the RS complex within murine sperm flagella and interacts with RSPH3A and RSPH3B.
PMIDs: 34585727