DOCK7 Gene Summary [Human]
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. [provided by RefSeq, Dec 2012]
Details
| Type | Processed Transcript |
| Official Symbol | DOCK7 |
| Official Name | dedicator of cytokinesis 7 [Source:HGNC Symbol;Acc:HGNC:19190] |
| Ensembl ID | ENSG00000116641 |
| Bio databases IDs | |
| Aliases | dedicator of cytokinesis 7 |
| Synonyms | 3110056M06Rik, dedicator of cytokinesis 7, DEE23, EIEE23, Gm430, KIAA1771, ZIR2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DOCK7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- DHR-2, Lobe B
- C2 domain in Dock180 and Zizimin proteins
- Dedicator of cytokinesis C/D, N terminal
- Dock Homology Region 2, a GEF domain, of Dedicator of Cytokinesis proteins
- DHR-2, Lobe A
- DOCK homology region 1
- enzyme binding
- GTPase activator
- protein binding
- C2 domain
- DHR-2, Lobe C
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cardiovascular disorder
- nonalcoholic fatty liver disease
- coronary artery disease
- early infantile epileptic encephalopathy type 23
- metabolic disorder
- hereditary disorder
- hypercholesterolemia
- familial hypobetalipoproteinemia type 2
- primary genetic hyperlipidemia
- Turner syndrome
role in cell
- migration
- formation
- proliferation
- activation in
- differentiation
- development
- displacement
- translocation
- length
- branching
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cell periphery
- basal compartment
- neuromuscular junctions
- growth cone
- neurites
- perikaryon
- axons
- axonal shafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DOCK7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- establishment of neuroblast polarity
- small GTPase mediated signal transduction
- neuron projection development
- axonogenesis
- microtubule cytoskeleton organization
- regulation of neurogenesis
- positive regulation of GTPase activity
- interkinetic nuclear migration
- positive regulation of peptidyl-serine phosphorylation
Cellular Component
Where in the cell the gene product is active
- growth cone
- focal adhesion
- basal part of cell
- signalosome
- neuron projection
- axon
Molecular Function
What the gene product does at the molecular level
- protein binding
- guanyl-nucleotide exchange factor activity
- small GTPase binding