Entity Details

Primary name CNGA1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP29973
EntryNameCNGA1_HUMAN
FullNamecGMP-gated cation channel alpha-1
TaxID9606
Evidenceevidence at protein level
Length690
SequenceStatuscomplete
DateCreated1993-04-01
DateModified2021-06-02

Ontological Relatives

GenesCNGA1

GO terms

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GOName
GO:0005222 intracellular cAMP-activated cation channel activity
GO:0005223 intracellular cGMP-activated cation channel activity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0007601 visual perception
GO:0016056 rhodopsin mediated signaling pathway
GO:0022400 regulation of rhodopsin mediated signaling pathway
GO:0030553 cGMP binding
GO:0042622 photoreceptor outer segment membrane

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR000595 Cyclic nucleotide-binding domainDomainDomain
IPR005821 Ion transport domainDomainDomain
IPR014710 RmlC-like jelly roll foldFamilyHomologous superfamily
IPR018488 Cyclic nucleotide-binding, conserved siteSiteConserved site
IPR018490 Cyclic nucleotide-binding-likeFamilyHomologous superfamily
IPR032406 Cyclic nucleotide-gated channel, C-terminal leucine zipper domainDomainDomain
IPR032945 cGMP-gated cation channel alpha-1FamilyFamily

Diseases

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Disease IDSourceNameDescription
613756 OMIMRetinitis pigmentosa 49 (RP49)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.

Drugs

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DrugNameSourceType
DB04209 DequaliniumDrugbanksmall molecule

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
CNGA1_HUMANNCKX1_HUMANBioGRID, HPRD12693957 details