Entity Details

Primary name ARHGI_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ6ZSZ5
EntryNameARHGI_HUMAN
FullNameRho guanine nucleotide exchange factor 18
TaxID9606
Evidenceevidence at protein level
Length1361
SequenceStatuscomplete
DateCreated2008-06-10
DateModified2021-06-02

Ontological Relatives

GenesARHGEF18

GO terms

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GOName
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007264 small GTPase mediated signal transduction
GO:0008360 regulation of cell shape
GO:0016324 apical plasma membrane
GO:0030036 actin cytoskeleton organization
GO:0030054 cell junction
GO:0035023 regulation of Rho protein signal transduction
GO:0043065 positive regulation of apoptotic process
GO:0045177 apical part of cell
GO:0046872 metal ion binding
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0051497 negative regulation of stress fiber assembly
GO:0070062 extracellular exosome
GO:0150105 protein localization to cell-cell junction

Subcellular Location

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Subcellular Location
Apical cell membrane
Cell membrane
Cytoplasm

Domains

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DomainNameCategoryType
IPR000219 Dbl homology (DH) domainDomainDomain
IPR001849 Pleckstrin homology domainDomainDomain
IPR011993 PH-like domain superfamilyFamilyHomologous superfamily
IPR013087 Zinc finger C2H2-typeDomainDomain
IPR035899 Dbl homology (DH) domain superfamilyFamilyHomologous superfamily
IPR037744 ARHGEF18, PH domainDomainDomain
IPR041020 ARHGEF1-like, PH domainDomainDomain

Diseases

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Disease IDSourceNameDescription
617433 OMIMRetinitis pigmentosa 78 (RP78)A form of retinitis pigmentosa, 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. RP78 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions