Entity Details

Primary name PCARE_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionA6NGG8
EntryNamePCARE_HUMAN
FullNamePhotoreceptor cilium actin regulator
TaxID9606
Evidenceevidence at transcript level
Length1288
SequenceStatuscomplete
DateCreated2008-04-08
DateModified2021-06-02

Ontological Relatives

GenesPCARE

GO terms

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GOName
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0005929 cilium
GO:0007601 visual perception
GO:0035845 photoreceptor cell outer segment organization
GO:0050896 response to stimulus
GO:1903546 protein localization to photoreceptor outer segment

Subcellular Location

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Subcellular Location
Cell projection
Photoreceptor inner segment

Domains

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DomainNameCategoryType
IPR029352 Photoreceptor cilium actin regulatorFamilyFamily

Diseases

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Disease IDSourceNameDescription
613428 OMIMRetinitis pigmentosa 54 (RP54)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.