Entity Details

Primary name GUC1B_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9UMX6
EntryNameGUC1B_HUMAN
FullNameGuanylyl cyclase-activating protein 2
TaxID9606
Evidenceevidence at protein level
Length200
SequenceStatuscomplete
DateCreated2000-12-01
DateModified2021-06-02

Ontological Relatives

GenesGUCA1B

GO terms

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GOName
GO:0001917 photoreceptor inner segment
GO:0005509 calcium ion binding
GO:0005886 plasma membrane
GO:0007168 receptor guanylyl cyclase signaling pathway
GO:0007267 cell-cell signaling
GO:0007589 body fluid secretion
GO:0007601 visual perception
GO:0008048 calcium sensitive guanylate cyclase activator activity
GO:0022400 regulation of rhodopsin mediated signaling pathway
GO:0097381 photoreceptor disc membrane
GO:0120199 cone photoreceptor outer segment

Subcellular Location

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Subcellular Location
Cell membrane
Cell projection
Photoreceptor inner segment

Domains

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DomainNameCategoryType
IPR002048 EF-hand domainDomainDomain
IPR011992 EF-hand domain pairFamilyHomologous superfamily
IPR015756 Guanylate cyclase activating protein 2FamilyFamily
IPR018247 EF-Hand 1, calcium-binding siteSiteBinding site
IPR028846 Recoverin familyFamilyFamily

Diseases

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Disease IDSourceNameDescription
613827 OMIMRetinitis pigmentosa 48 (RP48)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

3 interactions