ATL1 Gene Summary [Human]
The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ATL1 |
| Official Name | atlastin GTPase 1 [Source:HGNC Symbol;Acc:HGNC:11231] |
| Ensembl ID | ENSG00000198513 |
| Bio databases IDs | |
| Aliases | atlastin GTPase 1, atlastin |
| Synonyms | 4930435M24Rik, AD-FSP, ATLASTIN-1, atlastin GTPase 1, FSP1, GBP3, HSN1D, SPG3, SPG3A |
| 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 ATL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- GTP binding
- Guanylate-binding protein, N-terminal domain
- transmembrane domain
- GTPase
- enzyme
- protein binding
- cytosolic tail domain
- identical protein binding
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal dominant spastic paraplegia type 3
- hereditary disorder
- hereditary sensory neuropathy type ID
- Dupuytren contracture
- hereditary spastic paraplegia
- hereditary sensory neuropathy
- chronic obstructive pulmonary disease
- hereditary sensory neuropathy type I
- motor dysfunction or movement disorder
- spastic paraplegia
role in cell
- abnormal morphology
- development
- organization
- morphology
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
- microsomal fraction
- membrane fraction
- endoplasmic reticulum tubules
- cellular membrane
- Golgi Apparatus
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- growth cone
- dendritic trees
- Golgi cisternae
- perikaryon
- axons
- dendrites
- cis Golgi cisternae
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ATL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- axonogenesis
- protein homooligomerization
- endoplasmic reticulum organization
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum tubular network
- membrane
- endoplasmic reticulum
- Golgi apparatus
- Golgi membrane
- Golgi cis cisterna
- axon
Molecular Function
What the gene product does at the molecular level
- GTP binding
- identical protein binding
- protein binding
- GTPase activity