CNGB1

cyclic nucleotide gated channel subunit beta 1

Ensembl:
ENSG00000070729
UniProt:
Q14028
OMIM:
600724
Synonyms:
CNCG2, CNCG3L, CNGB1B, GAR1, GARP

Cilia effects upon perturbation of CNGB1

Ciliogenesis screen results (3 screens)

  • Kim2016: Not Reported
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
retinitis pigmentosa; retinitis pigmentosa 45

Subcellular localization

cilia

Functional category

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

Function

It endows the olfactory CNG channel with a variety of biophysical properties tailored to the specific requirements of olfactory transduction and is required for ciliary targeting of the olfactory CNG channel. Cooperation in mediating feedback modulation by Ca2+-CaM (16980309). Key regulators of disk size by mediating a physical connection between disk rims and the OS plasma membrane Loss of Cngb1 disruptes links between the disk and plasma membranes (23178122)

Model organism evidence

C. elegans (1 reference)

We demonstrate that ciliary localization of CNG channel subunits is interdependent on different channel subunits in specific cells, and identify sequences required for efficient ciliary targeting and localization of the TAX-2 CNGB and TAX-4 CNGA subunits.

PMIDs: 23886944

Mus musculus (1 reference)

Defects in primary cilia lead to devastating disease because of their roles in sensation and developmental signaling but much is unknown about ciliary structure and mechanisms of their formation and maintenance.

PMIDs: 23178122