Entity Details

Primary name PDE6A_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP16499
EntryNamePDE6A_HUMAN
FullNameRod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha
TaxID9606
Evidenceevidence at transcript level
Length860
SequenceStatuscomplete
DateCreated1990-08-01
DateModified2021-06-02

Ontological Relatives

GenesPDE6A

GO terms

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GOName
GO:0004114 3',5'-cyclic-nucleotide phosphodiesterase activity
GO:0005886 plasma membrane
GO:0007165 signal transduction
GO:0007223 Wnt signaling pathway, calcium modulating pathway
GO:0007601 visual perception
GO:0016056 rhodopsin mediated signaling pathway
GO:0022400 regulation of rhodopsin mediated signaling pathway
GO:0042622 photoreceptor outer segment membrane
GO:0046872 metal ion binding
GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity
GO:0060041 retina development in camera-type eye
GO:0097381 photoreceptor disc membrane

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR002073 3'5'-cyclic nucleotide phosphodiesterase, catalytic domainDomainDomain
IPR003018 GAF domainDomainDomain
IPR003607 HD/PDEase domainDomainDomain
IPR023088 3'5'-cyclic nucleotide phosphodiesteraseFamilyFamily
IPR023174 3'5'-cyclic nucleotide phosphodiesterase, conserved siteSiteConserved site
IPR029016 GAF-like domain superfamilyFamilyHomologous superfamily
IPR032958 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alphaFamilyFamily
IPR036971 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
613810 OMIMRetinitis pigmentosa 43 (RP43)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
DB00201 CaffeineDrugbanksmall molecule
DB09283 TrapidilDrugbanksmall molecule

Interactions

0 interactions

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