GNAS

GNAS complex locus

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000087460
UniProt:
Q5JWF2
OMIM:
139320
Synonyms:
GNAS1, GNASXL, GPSA, NESP, NESP55, SCG6, SGVI

Ciliogenesis screen results (4 screens)

  • 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
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=16, lfc=1.91) PMID:30270045

Phenotypes

Mouse phenotype:
increased startle reflex
Human ciliopathy phenotype:
ACTH-independent macronodular adrenal hyperplasia 1; Cushing syndrome due to macronodular adrenal hyperplasia

Ciliopathy associations

  • Polycystic Kidney Disease

References: PMID:34469896

Subcellular localization

cilia, cytosol, nucleus

References: PMID:35286670

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Metabolism
  • Viral interactions
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

G S (Guanine Nucleotide-Binding Protein G(s) Subunit Alpha) is functionally localized to the membrane of cilia and plays a significant role in cAMP signaling within the ciliary compartment (35286670).