Entity Details

Primary name GUCA1A
Entity type gene
Source Source Link

Details

PrimaryID2978
RefseqGeneNG_009938
SymbolGUCA1A
Nameguanylate cyclase activator 1A
Chromosome6
Location6p21.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-17
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGUC1A_HUMAN

GO terms

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GOName
GO:0001917 photoreceptor inner segment
GO:0005509 calcium ion binding
GO:0007165 signal transduction
GO:0007601 visual perception
GO:0007602 phototransduction
GO:0008048 calcium sensitive guanylate cyclase activator activity
GO:0010753 positive regulation of cGMP-mediated signaling
GO:0022400 regulation of rhodopsin mediated signaling pathway
GO:0030249 guanylate cyclase regulator activity
GO:0031284 positive regulation of guanylate cyclase activity
GO:0071277 cellular response to calcium ion
GO:0097381 photoreceptor disc membrane
GO:0120199 cone photoreceptor outer segment

Diseases

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Disease IDSourceNameDescription
602093 OMIMCone dystrophy 3 (COD3)An autosomal dominant 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.
602093 OMIMCone dystrophy 3 (COD3)An autosomal dominant 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.

Interactions

8 interactions

InteractorPartnerSourcesPublicationsLink
GUCA1AHSPB1BioGRID, IntAct25277244 details
GUCA1AC1QTNF5BioGRID, IntAct32296183 details
GUCA1APRKAR1BBioGRID, IntAct32296183 details
GUCA1ADEFB118BioGRID, IntAct32296183 details
GUCA1AGSC2BioGRID, IntAct32296183 details
GUCA1ADDIT4LBioGRID, IntAct32296183 details
GUCA1AAGR2BioGRID, IntAct32296183 details
GUCA1AKATNAL1BioGRID, IntAct32296183 details