GNAI1

Cilia effects upon perturbation of GNAI1

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Impaired ciliogenesis

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

abnormal spleen morphology, hypospermia

Human ciliopathy phenotype:

Mutations cause developmental delay, intellectual disability, hypotonia, epilepsy.

Ciliopathy associations

• Intellectual Developmental Disorder

References: PMID:41052774

Subcellular localization

basal body, centrosome, nucleus, cilium

References: PMID:41052774, PMID:41005307, PMID:40894620, doi:10.1101/2025.05.11.653368

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Metabolism
• Viral interactions
• Cell migration & adhesion
• Signaling (Hedgehog, GPCRs, ion channels)

Function

GNAI1 has localized in basal body. GNAI1 knockdown impairs ciliogenesis in human cells. GNAI1 variants disrupt ciliary localization of Gαi1 proteins. (40894620) Detected in primary cilia of human hypothalamic neurons by proximity proteomics (Macarelli et al., 2025, bioRxiv, doi 10.1101/2025.05.11.653368).