RSPH1
radial spoke head component 1; radial spoke head component 1
- Ensembl:
- ENSG00000160188
- UniProt:
- Q8WYR4
- OMIM:
- 609314
- Synonyms:
- CILD24, FLJ32753, RSP44, RSPH10A, TSGA2
Cilia effects upon perturbation of RSPH1
- Cilia number / % ciliated:
- No effect
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
- Primary Ciliary Dyskinesia
Subcellular localization
acrosome, basal body, centrosome, cilia, cytosol, flagella, mid piece, nucleus
Functional category
- Non-motile cilium / primary cilium; Motors (dynein/kinesin); Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
- Reproduction & sperm
Function
Core component of the Radial Spoke Head 1 (RS1) structure in the axoneme of motile cilia. Required for ciliary beat and correct Dynein arm function. Mutations cause Primary Ciliary Dyskinesia (PCD)(39600100). RSPH1 has localized in flagella.; Mutations have been shown to cause PCD (25473808, 24568568). Integral component of the ciliary axoneme expressed during ciliated cell differentiation (24568568). Mainly expressed in tissues with motile cilia or flagella, absence of RSPH1 leads toabnormal axonemal configuration with central- complex defects, suggesting a role for RSPH1 in proper building of central-complexes and radial spokes (23993197).