Entity Details

Primary name RAB18_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NP72
EntryNameRAB18_HUMAN
FullNameRas-related protein Rab-18
TaxID9606
Evidenceevidence at protein level
Length206
SequenceStatuscomplete
DateCreated2001-01-11
DateModified2021-06-02

Ontological Relatives

GenesRAB18

GO terms

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GOName
GO:0001654 eye development
GO:0003924 GTPase activity
GO:0005525 GTP binding
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005811 lipid droplet
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006886 intracellular protein transport
GO:0007264 small GTPase mediated signal transduction
GO:0007420 brain development
GO:0012505 endomembrane system
GO:0016032 viral process
GO:0016324 apical plasma membrane
GO:0019003 GDP binding
GO:0030667 secretory granule membrane
GO:0034389 lipid droplet organization
GO:0043312 neutrophil degranulation
GO:0071782 endoplasmic reticulum tubular network
GO:0071786 endoplasmic reticulum tubular network organization

Subcellular Location

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Subcellular Location
Apical cell membrane
Lipid droplet

Domains

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DomainNameCategoryType
IPR001806 Small GTPaseFamilyFamily
IPR005225 Small GTP-binding protein domainDomainDomain
IPR025662 Sigma-54 interaction domain, ATP-binding site 1SiteBinding site
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
614222 OMIMWarburg micro syndrome 3 (WARBM3)A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. The disease is caused by variants affecting the gene represented in this entry.