GNB1

G protein subunit beta 1

Ensembl:
ENSG00000078369
UniProt:
P62873
OMIM:
139380

Cilia effects upon perturbation of GNB1

Ciliogenesis screen results (4 screens)

  • Kim2016: No effect
  • 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:
decreased total reti thickness, increased bone mineral content, hyperactivity, facial cleft, decreased anxiety-related response, preweaning lethality, complete penetrance, abnormal reti outer nuclear layer morphology, increased vertical activity
Human ciliopathy phenotype:
intellectual disability, autosomal dominant 42; Intellectual disability; Global developmental delay

Ciliopathy associations

  • Cone-Rod Dystrophy

Subcellular localization

cilia associated gene

Functional category

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

Function

Subunit of transducin. Localises to photoreceptor outer segment. Requires RP2 for normal localisation. SUMOylation motifs are not present in several other proteins that localize to olfactory cilia, including … GNB1. (25908845)

Model organism evidence

Danio rerio (1 reference)

Mutations in the gene Centrosomal Protein 290 kDa (CEP290) result in multiple ciliopathies ranging from the neonatal lethal disorder Meckel-Gruber Syndrome to multi-systemic disorders such as Joubert Syndrome and Bardet-Biedl Syndrome to nonsyndromic diseases like Leber Congenital Amaurosis (LCA)

PMIDs: 30970040