Entity Details

Primary name RAB28_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP51157
EntryNameRAB28_HUMAN
FullNameRas-related protein Rab-28
TaxID9606
Evidenceevidence at protein level
Length221
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesRAB28

GO terms

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GOName
GO:0003924 GTPase activity
GO:0005525 GTP binding
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0006886 intracellular protein transport
GO:0012505 endomembrane system
GO:0019003 GDP binding
GO:0035253 ciliary rootlet
GO:0036064 ciliary basal body
GO:1901998 toxin transport

Subcellular Location

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Subcellular Location
Cell membrane
Cytoplasm

Domains

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DomainNameCategoryType
IPR001806 Small GTPaseFamilyFamily
IPR005225 Small GTP-binding protein domainDomainDomain
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
615374 OMIMCone-rod dystrophy 18 (CORD18)A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. The disease is caused by variants affecting the gene represented in this entry.