RSPH3

radial spoke head 3

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000130363
UniProt:: Q86UC2
OMIM:: 615876
Synonyms:: DJ111C20.1, RSHL2, RSP3

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

References: PMID:26073779, PMID:32124190, PMID:37670815

Subcellular localization

cilia

References: PMID:19684019, PMID:26073779, PMID:29475374

Functional category

Ciliary assembly/disassembly

Function

Protein kinase A-anchoring protein that scaffolds the cAMP-dependent protein kinase 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 Chlamydomonas reinhardtii lead to paralyzed flagella due to loss of the entire radial spoke structure (29475374).

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