CNGB1

cyclic nucleotide gated channel subunit beta 1

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000070729
UniProt:: Q14028
OMIM:: 600724
Synonyms:: CNCG2, CNCG3L, CNGB1B, GAR1, GARP, RCNC2, RCNCB, RP45

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

References: PMID:16980309, PMID:23178122

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)

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