Gene Ontology annotation through association of InterPro records with GO terms

Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity

GO_REF:0000033

Annotation inferences using phylogenetic trees

GO_REF:0000044

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

GO_REF:0000052

Gene Ontology annotation based on curation of immunofluorescence data

GO_REF:0000117

Electronic Gene Ontology annotations created by ARBA machine learning models

PMID:32296183

A reference map of the human binary protein interactome.

PMID:32814053

Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains.

Reactome:R-HSA-205039

p75NTR indirectly activates RAC and Cdc42 via a guanyl-nucleotide exchange factor

Reactome:R-HSA-419166

GEFs activate RhoA,B,C

Reactome:R-HSA-9012999

RHO GTPase cycle

Reactome:R-HSA-9013159

CDC42 GEFs activate CDC42

Reactome:R-HSA-975340

GABR heteropentamers:GABA transport Cl- from extracellular region to cytosol

PMID:10559246

Identification and characterization of hPEM-2, a guanine nucleotide exchange factor specific for Cdc42.

Human hPEM-2 expression increases cellular CDC42 activation under the tested conditions.

"hPEM-2 specifically activates Cdc42 and not Rac or RhoA."

PMID:15215304

The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering.

Collybistin-gephyrin interactions and the PH domain support gephyrin clustering.

"gephyrin clustering in recombinant systems and cultured neurons requires both collybistin-gephyrin interactions and an intact collybistin pleckstrin homology domain."

PMID:20345913

PH-domain-driven targeting of collybistin but not Cdc42 activation is required for synaptic gephyrin clustering.

Gephyrin recruitment can be retained without detectable GEF activity toward CDC42.

"lacking any detectable GEF activity towards Cdc42 was still fully active in inducing gephyrin scaffold formation"

PMID:25082542

A conformational switch in collybistin determines the differentiation of inhibitory postsynapses.

Conformationally regulated collybistin links gephyrin to membrane phosphoinositides.

"switchable adaptor that links gephyrin to plasma membrane phosphoinositides."

PMID:25678704

Lipid binding defects and perturbed synaptogenic activity of a Collybistin R290H mutant that causes epilepsy and intellectual disability.

Defective lipid affinity impairs the membrane recruitment mechanism in the tested rat collybistin variants.

"This defect reduces the phosphatidylinositol 3-phosphate binding affinity of Cb, which limits its normal synaptogenic activity."

file:human/ARHGEF9/ARHGEF9-notes.md

ARHGEF9 manual source and assay-scope notes

The positive rat collybistin control recruits gephyrin to the plasma membrane.

"GFP-Gephyrin forms microclusters at the plasma membrane."
The current human HPA target summary reports cytosol.

"Localized to the cytosol."