GNAS

GNAS complex locus

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

Cilia effects upon perturbation of GNAS

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

Ciliopathy associations

  • Polycystic Kidney Disease

Subcellular localization

cilia, cytosol, nucleus

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 functio lly localized to the membrane of cilia and plays a significant role in cAMP sig ling within the ciliary compartment (35286670).

Model organism evidence

Mus musculus (1 reference)

GPR45 modulates Gα(s) at primary cilia of the paraventricular hypothalamus to control food intake.

PMIDs: 40472089