PLEKHG4 Gene Summary [Human]
The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Details
| Type | Protein Coding |
| Official Symbol | PLEKHG4 |
| Official Name | pleckstrin homology and RhoGEF domain containing G4 [Source:HGNC Symbol;Acc:HGNC:24501] |
| Ensembl ID | ENSG00000196155 |
| Bio databases IDs | |
| Aliases | pleckstrin homology and RhoGEF domain containing G4, puratrophin-1 |
| Synonyms | 4931414L13Rik, ARHGEF44, DKFZP434I216, pleckstrin homology and RhoGEF domain containing G4, pleckstrin homology domain containing, family G (with RhoGef domain) member 4, PRTPHN1, PURATROPHIN 1, RGD1310790, SCA4 |
| 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 PLEKHG4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain in homologues of a S
- RhoGEF
- Divergent CRAL/TRIO domain
- guanyl-nucleotide exchange factor
- PH domain
- protein binding
- Pleckstrin homology-like domain
- RhoGEF domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PLEKHG4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of small GTPase mediated signal transduction
- axon guidance
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- cytosol
- extrinsic to membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- guanyl-nucleotide exchange factor activity