DOCK7
Domain
The DOCKER domain mediates GEF activity.
Function
Functions as a guanine nucleotide exchange factor (GEF), which activates Rac1 and Rac3 Rho small GTPases by exchanging bound GDP for free GTP. Does not have a GEF activity for CDC42. Required for STMN1 'Ser-15' phosphorylation during axon formation and consequently for neuronal polarization (PubMed:16982419). As part of the DISP complex, may regulate the association of septins with actin and thereby regulate the actin cytoskeleton (PubMed:29467281). Has a role in pigmentation (By similarity). Involved in the regulation of cortical neurogenesis through the control of radial glial cells (RGCs) proliferation versus differentiation; negatively regulates the basal-to-apical interkinetic nuclear migration of RGCs by antagonizing the microtubule growth-promoting function of TACC3 (By similarity).
Involvement in disease
Developmental and epileptic encephalopathy 23
DEE23
A severe disease characterized by early-onset intractable epilepsy, dysmorphic features, intellectual disability, and cortical blindness. Brain imaging shows an abnormally marked pontobulbar sulcus with mild pontine hypoplasia, white matter abnormalities, and atrophy in the occipital lobe.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the DOCK family.
Tissue Specificity
Widely expressed.
Cellular localization
- Cell projection
- Axon
- Enriched in the developing axons of hippocampal neurons.
Alternative names
KIAA1771, DOCK7, Dedicator of cytokinesis protein 7