CCDC88A

coiled-coil domain containing 88A

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000115355
UniProt:
Q3V6T2
OMIM:
609736
Synonyms:
APE, FLJ10392, GIV, GRDN, HKRP1, KIAA1212

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.98) PMID:41160700

Subcellular localization

basal body, cytosol, endosome

References: PMID:41005307, PMID:27623382

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Protein processing & maturation
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Conserved signaling and scaffolding protein Girdin localizes to the proximal regions of centrioles and regulates BB positioning and ciliogenesis in Caenorhabditis elegans sensory neurons and human RPE-1 cells. Girdin depletion alters localization of the intercentriolar linker and ciliary rootlet component rootletin, and rootletin knockdown in RPE-1 cells mimics Girdin-dependent phenotypes. C. elegans Girdin also regulates localization of the apical junction component AJM-1, suggesting that in nematodes Girdin may position BBs via rootletin- and AJM-1-dependent anchoring to the cytoskeleton and plasma membrane, respectively(27623382).