Entity Details

Primary name XRP2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO75695
EntryNameXRP2_HUMAN
FullNameProtein XRP2
TaxID9606
Evidenceevidence at protein level
Length350
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesRP2

GO terms

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GOName
GO:0000287 magnesium ion binding
GO:0000902 cell morphogenesis
GO:0005096 GTPase activator activity
GO:0005525 GTP binding
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005814 centriole
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0006457 protein folding
GO:0006892 post-Golgi vesicle-mediated transport
GO:0007601 visual perception
GO:0015031 protein transport
GO:0016604 nuclear body
GO:0031410 cytoplasmic vesicle
GO:0036064 ciliary basal body
GO:0051082 unfolded protein binding
GO:0060271 cilium assembly
GO:0070062 extracellular exosome
GO:1990075 periciliary membrane compartment

Subcellular Location

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Subcellular Location
Cell membrane
Cell projection

Domains

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DomainNameCategoryType
IPR006599 CARP motifDomainDomain
IPR012945 Tubulin binding cofactor C-like domainDomainDomain
IPR016098 Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminalFamilyHomologous superfamily
IPR017901 C-CAP/cofactor C-like domainDomainDomain
IPR036223 Adenylate cyclase-associated CAP, C-terminal superfamilyFamilyHomologous superfamily
IPR036850 Nucleoside diphosphate kinase-like domain superfamilyFamilyHomologous superfamily
IPR039093 Protein XRP2FamilyFamily

Diseases

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Disease IDSourceNameDescription
312600 OMIMRetinitis pigmentosa 2 (RP2)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

5 interactions