DOCK7

The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene.

Full Name

dedicator of cytokinesis 7

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).

Biological Process

Activation of GTPase activity Source: BHF-UCL
Axonogenesis Source: BHF-UCL
Establishment of neuroblast polarity Source: BHF-UCL
Interkinetic nuclear migration Source: UniProtKB
Microtubule cytoskeleton organization Source: BHF-UCL
Negative regulation of cold-induced thermogenesis Source: YuBioLab
Neuron projection development Source: BHF-UCL
Positive regulation of peptidyl-serine phosphorylation Source: BHF-UCL
Positive regulation of vascular associated smooth muscle cell migration Source: BHF-UCL
Regulation of neurogenesis Source: UniProtKB
Small GTPase mediated signal transduction Source: InterPro

Cellular Location

Axon. Enriched in the developing axons of hippocampal neurons.

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.