InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CNGB1

Summary

InnateDB Protein

IDBP-33923.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CNGB1

Protein Name

cyclic nucleotide gated channel beta 1

Synonyms

CNCG2; CNCG3L; CNCG4; CNG4; CNGB1B; GAR1; GARP; GARP2; RCNC2; RCNCb; RCNCbeta; RP45;

Species

Homo sapiens

Ensembl Protein

ENSP00000251102

InnateDB Gene

IDBG-33921 (CNGB1)

Protein Structure

UniProt Annotation

Function

Subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP.Isoform GARP2 is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties: it is a regulator of spontaneous activation of rod PDE6, thereby serving to lower rod photoreceptor 'dark noise' and allowing these sensory cells to operate at the single photon detection limit.

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

Retinitis pigmentosa 45 (RP45) [MIM:613767]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:11379879}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005222	intracellular cAMP activated cation channel activity
GO:0005223	intracellular cGMP activated cation channel activity
GO:0005249	voltage-gated potassium channel activity
GO:0005515	protein binding
GO:0015276	ligand-gated ion channel activity
GO:0030552	cAMP binding
GO:0030553	cGMP binding

Biological Process

GO:0001895	retina homeostasis
GO:0006810	transport
GO:0006812	cation transport
GO:0007601	visual perception
GO:0007603	phototransduction, visible light
GO:0007608	sensory perception of smell
GO:0016056	rhodopsin mediated signaling pathway
GO:0022400	regulation of rhodopsin mediated signaling pathway
GO:0042391	regulation of membrane potential
GO:0050908	detection of light stimulus involved in visual perception
GO:0051290	protein heterotetramerization
GO:0051480	cytosolic calcium ion homeostasis
GO:0071805	potassium ion transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0017071	intracellular cyclic nucleotide activated cation channel complex
GO:0043195	terminal bouton
GO:1902495	transmembrane transporter complex