Entity Details

Primary name CNGB1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ14028
EntryNameCNGB1_HUMAN
FullNameCyclic nucleotide-gated cation channel beta-1
TaxID9606
Evidenceevidence at protein level
Length1251
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesCNGB1

GO terms

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GOName
GO:0001750 photoreceptor outer segment
GO:0001895 retina homeostasis
GO:0005222 intracellular cAMP-activated cation channel activity
GO:0005223 intracellular cGMP-activated cation channel activity
GO:0005886 plasma membrane
GO:0006812 cation transport
GO:0007601 visual perception
GO:0007608 sensory perception of smell
GO:0015276 ligand-gated ion channel activity
GO:0016056 rhodopsin mediated signaling pathway
GO:0017071 intracellular cyclic nucleotide activated cation channel complex
GO:0022400 regulation of rhodopsin mediated signaling pathway
GO:0030552 cAMP binding
GO:0030553 cGMP binding
GO:0030660 Golgi-associated vesicle membrane
GO:0033365 protein localization to organelle
GO:0035845 photoreceptor cell outer segment organization
GO:0043195 terminal bouton
GO:0044877 protein-containing complex binding
GO:0045494 photoreceptor cell maintenance
GO:0050908 detection of light stimulus involved in visual perception
GO:0051480 regulation of cytosolic calcium ion concentration
GO:0060170 ciliary membrane
GO:0060271 cilium assembly
GO:1902495 transmembrane transporter complex

Subcellular Location

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Subcellular Location
Membrane

Domains

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DomainNameCategoryType
IPR000595 Cyclic nucleotide-binding domainDomainDomain
IPR014710 RmlC-like jelly roll foldFamilyHomologous superfamily
IPR018488 Cyclic nucleotide-binding, conserved siteSiteConserved site
IPR018490 Cyclic nucleotide-binding-likeFamilyHomologous superfamily
IPR032944 Cyclic nucleotide-gated cation channel beta-1FamilyFamily

Diseases

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Disease IDSourceNameDescription
613767 OMIMRetinitis pigmentosa 45 (RP45)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions