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

References: PMID:38500542

Subcellular localization

No ciliary localization reported (cilia-associated gene).

References: PMID:25908845

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)