Entity Details

Primary name PDE6C_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP51160
EntryNamePDE6C_HUMAN
FullNameCone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'
TaxID9606
Evidenceevidence at protein level
Length858
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesPDE6C

GO terms

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GOName
GO:0004114 3',5'-cyclic-nucleotide phosphodiesterase activity
GO:0005886 plasma membrane
GO:0007165 signal transduction
GO:0007601 visual perception
GO:0007603 phototransduction, visible light
GO:0030553 cGMP binding
GO:0046549 retinal cone cell development
GO:0046872 metal ion binding
GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity

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
IPR036971 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
613093 OMIMCone dystrophy 4 (COD4)An early-onset cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. The disease is caused by variants affecting the gene represented in this entry.
613093 OMIMCone dystrophy 4 (COD4)An early-onset cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. 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

1 interaction

InteractorPartnerSourcesPublicationsLink
PDE6C_HUMANCDC42_HUMANBioGRID31478661 details