Entity Details

Primary name XLRS1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO15537
EntryNameXLRS1_HUMAN
FullNameRetinoschisin
TaxID9606
Evidenceevidence at protein level
Length224
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesRS1

GO terms

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GOName
GO:0001786 phosphatidylserine binding
GO:0001917 photoreceptor inner segment
GO:0005615 extracellular space
GO:0007155 cell adhesion
GO:0007275 multicellular organism development
GO:0007601 visual perception
GO:0010842 retina layer formation
GO:0016062 adaptation of rhodopsin mediated signaling
GO:0019897 extrinsic component of plasma membrane
GO:0043325 phosphatidylinositol-3,4-bisphosphate binding
GO:0051260 protein homooligomerization
GO:0098984 neuron to neuron synapse

Subcellular Location

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Subcellular Location
Cell membrane
Secreted

Domains

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DomainNameCategoryType
IPR000421 Coagulation factor 5/8 C-terminal domainDomainDomain
IPR008979 Galactose-binding-like domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
312700 OMIMRetinoschisis juvenile X-linked 1 (XLRS1)A vitreo-retinal dystrophy characterized by macular pathology and by splitting of the superficial layer of the retina. Macular changes are present in almost all cases. In the fundi, radially oriented intraretinal foveomacular cysts are seen in a spoke-wheel configuration, with the absence of foveal reflex in most cases. In addition, approximately half of cases have bilateral peripheral retinoschisis in the inferotemporal part of the retina. Aside from the typical fundus appearance, strabismus, nystagmus, axial hyperopia, defective color vision and foveal ectopy can be present. The most important complications are vitreous hemorrhage, retinal detachment, and neovascular glaucoma. The disease is caused by variants affecting the gene represented in this entry.