Entity Details

Primary name RAE1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP24386
EntryNameRAE1_HUMAN
FullNameRab proteins geranylgeranyltransferase component A 1
TaxID9606
Evidenceevidence at protein level
Length653
SequenceStatuscomplete
DateCreated1992-03-01
DateModified2021-06-02

Ontological Relatives

GenesCHM

GO terms

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GOName
GO:0004663 Rab geranylgeranyltransferase activity
GO:0005092 GDP-dissociation inhibitor activity
GO:0005096 GTPase activator activity
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005968 Rab-protein geranylgeranyltransferase complex
GO:0006612 protein targeting to membrane
GO:0007264 small GTPase mediated signal transduction
GO:0007601 visual perception
GO:0016192 vesicle-mediated transport
GO:0018344 protein geranylgeranylation
GO:0031267 small GTPase binding
GO:0042981 regulation of apoptotic process
GO:0043547 positive regulation of GTPase activity
GO:0043687 post-translational protein modification

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR001738 Rab protein geranylgeranyltransferase component AFamilyFamily
IPR018203 GDP dissociation inhibitorFamilyFamily
IPR036188 FAD/NAD(P)-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
303100 OMIMChoroideremia (CHM)An X-linked recessive disease characterized by a slowly progressive degeneration of the choroid, photoreceptors, and retinal pigment epithelium. Affected males develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle age. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal atrophy. The disease is caused by variants affecting the gene represented in this entry.