PLEKHG5 Gene Summary [Human]
This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Details
| Type | Retained Intron |
| Official Symbol | PLEKHG5 |
| Official Name | pleckstrin homology and RhoGEF domain containing G5 [Source:HGNC Symbol;Acc:HGNC:29105] |
| Ensembl ID | ENSG00000171680 |
| Bio databases IDs | |
| Aliases | pleckstrin homology and RhoGEF domain containing G5, synectin-binding guanine exchange factor |
| Synonyms | ARHGEF45, CMTRIC, DSMA4, GEF720, Gm8400, HMNR4, pleckstrin homology and RhoGEF domain containing G5, pleckstrin homology domain containing, family G (with RhoGef domain) member 5, Syx, Tech |
| 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 PLEKHG5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RhoGEF
- guanyl-nucleotide exchange factor
- Ubl1_cv_Nsp3_N-like
- PH domain
- protein binding
- Pleckstrin homology-like domain
- RhoGEF domain
Pathways
Biological processes and signaling networks where the PLEKHG5 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive distal spinal muscular atrophy type 4
- Charcot-Marie-Tooth disease recessive intermediate type C
- neuromuscular disease
- multiple sclerosis
- juvenile amyotrophic lateral sclerosis
- hereditary disorder
- hereditary spastic paraplegia
- facioscapulohumeral spinal muscular atrophy
regulates
role in cell
- migration
- chemotaxis by
- tubulation
- sorafenib sensitivity
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
- Plasma Membrane
- intercellular junctions
- cytosol
- endocytotic vesicle
- lamellipodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PLEKHG5 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
- endothelial cell chemotaxis
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- endothelial cell migration
- Rho protein signal transduction
Cellular Component
Where in the cell the gene product is active
- endocytic vesicle
- perinuclear region of cytoplasm
- cell-cell junction
- cytoplasm
- cytosol
- axon
- plasma membrane
- lamellipodium
Molecular Function
What the gene product does at the molecular level
- guanyl-nucleotide exchange factor activity