GNAI1

G protein subunit alpha i1

Ensembl:
ENSG00000127955
UniProt:
P63096
OMIM:
139310
Synonyms:
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

Subcellular localization

basal body, centrosome, nucleus

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

G I1 has localized in basal body. GNAI1 knockdown impairs ciliogenesis in human cells. GNAI1 variants disrupt ciliary localization of Gαi1 proteins. (40894620)

Model organism evidence

C. elegans (2 references)

Here, we show that GNAI1 is required for ciliogenesis in human cells and use Caenorhabditis elegans as a whole-organism model to determine the functional impact of 7 GNAI1-disorder patient variants.

Here, we show that GNAI1 is required for ciliogenesis in human cells and use C.

PMIDs: 41052774, 40894620