Entity Details

Primary name ARHG9_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO43307
EntryNameARHG9_HUMAN
FullNameRho guanine nucleotide exchange factor 9
TaxID9606
Evidenceevidence at protein level
Length516
SequenceStatuscomplete
DateCreated2006-10-17
DateModified2021-06-02

Ontological Relatives

GenesARHGEF9

GO terms

Show/Hide Table
GOName
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005829 cytosol
GO:0007186 G protein-coupled receptor signaling pathway
GO:0014069 postsynaptic density
GO:0043065 positive regulation of apoptotic process
GO:0051056 regulation of small GTPase mediated signal transduction

Subcellular Location

Show/Hide Table
Subcellular Location
Cell junction
Cytoplasm

Domains

Show/Hide Table
DomainNameCategoryType
IPR000219 Dbl homology (DH) domainDomainDomain
IPR001452 SH3 domainDomainDomain
IPR001849 Pleckstrin homology domainDomainDomain
IPR011993 PH-like domain superfamilyFamilyHomologous superfamily
IPR035728 Rho guanine nucleotide exchange factor 9, SH3 domainDomainDomain
IPR035899 Dbl homology (DH) domain superfamilyFamilyHomologous superfamily
IPR036028 SH3-like domain superfamilyFamilyHomologous superfamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
300607 OMIMDevelopmental and epileptic encephalopathy 8 (DEE8)A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and mental retardation. Seizures can be provoked by tactile stimulation or extreme emotion. The disease is caused by variants affecting the gene represented in this entry.