Version 5.4
Homo sapiens Gene: CNGB1
Summary
InnateDB Gene IDBG-33921.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CNGB1
Gene Name cyclic nucleotide gated channel beta 1
Synonyms CNCG2; CNCG3L; CNCG4; CNG4; CNGB1B; GAR1; GARP; GARP2; RCNC2; RCNCb; RCNCbeta; RP45
Species Homo sapiens
Ensembl Gene ENSG00000070729
Encoded Proteins
IDBP-33923
cyclic nucleotide gated channel beta 1
IDBP-33925
cyclic nucleotide gated channel beta 1
IDBP-748045
IDBP-750399
IDBP-750359
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:57882340-57971116
Strand Reverse strand
Band q21
Transcripts
ENST00000251102 ENSP00000251102
ENST00000311183 ENSP00000311670
ENST00000562761 ENSP00000455708
ENST00000564450
ENST00000569643
ENST00000565942 ENSP00000455964
ENST00000564448 ENSP00000454633
ENST00000567568
ENST00000564654
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000031789
View Gene Order
ENSBTAG00000005702
Not yet available
Pathways
NETPATH
REACTOME
REACT_163932
Activation of the phototransduction cascade pathway
REACT_111102
Signal Transduction pathway
REACT_160102
Diseases associated with visual transduction pathway
REACT_160125
Visual phototransduction pathway
REACT_163722
The phototransduction cascade pathway
REACT_163919
Inactivation, recovery and regulation of the phototransduction cascade pathway
REACT_116125
Disease pathway
KEGG
hsa04740
Olfactory transduction pathway
hsa04744
Phototransduction pathway
INOH
PID NCI
Cross-References
SwissProt Q14028
TrEMBL H3BQC3
UniProt Splice Variant
Entrez Gene 1258
UniGene Hs.147062
RefSeq NM_001135639 NM_001286130 NM_001297 XM_006721134
HUGO HGNC:2151
OMIM 600724
CCDS CCDS42169 CCDS45495 CCDS67042
HPRD
IMGT
EMBL AC010543 AF042498 CH471092 L15296 L15297 U18945 U58837
GenPept AAA65619 AAA65620 AAA91633 AAB63387 AAC04830 EAW82957
RNA Seq Atlas 1258

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca