SPG11 Gene Summary [Human]
The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Details
| Type | Protein Coding |
| Official Symbol | SPG11 |
| Official Name | SPG11 vesicle trafficking associated, spatacsin [Source:HGNC Symbol;Acc:HGNC:11226] |
| Ensembl ID | ENSG00000104133 |
| Bio databases IDs | |
| Aliases | SPG11 vesicle trafficking associated, spatacsin, spatacsin |
| Synonyms | 6030465E24Rik, A330015I11, ALS5, C530005A01Rik, CMT2X, FLJ21439, KIAA1840, LOC100505100, RGD1562529, SPG11, spatacsin vesicle trafficking associated, SPG11 vesicle trafficking associated, spatacsin |
| 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 SPG11 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein kinase binding
- Spatacsin C-terminus
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- hereditary spastic paraplegia
- spastic paraplegia 11
- hereditary disorder
- wheeze
- axonal Charcot-Marie-Tooth disease type 2X
- juvenile recessive amyotrophic lateral sclerosis type 5
- early-onset Parkinson disease type 20
- SPG11-related disorder
- Charcot-Marie-Tooth disease
role in cell
- apoptosis
- development
- organization
- transport
- extension
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
- cilia
- Plasma Membrane
- Endoplasmic Reticulum
- cytosol
- nucleoli
- synapse
- cytoplasmic vesicles
- axons
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SPG11 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lysosome organization
- phagosome-lysosome fusion involved in apoptotic cell clearance
- axon cargo transport
- corticospinal tract morphogenesis
- synaptic transmission
- memory
- neuromuscular junction development
- motor neuron apoptotic process
- synaptic vesicle transport
- axon extension
- skeletal muscle fiber development
- protein import into nucleus
- axonogenesis
- cholesterol efflux
- localization within membrane
- regulation of store-operated calcium entry
Cellular Component
Where in the cell the gene product is active
- dendrite
- cytoplasm
- cytosol
- cytoplasmic vesicle
- synapse
- nucleolus
- axon
- plasma membrane
- lysosomal membrane
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- protein binding