ATL3 Gene Summary [Human]
This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated with hereditary sensory neuropathy type IF. Alternatively spliced transcript variants that encode distinct isoforms have been described. [provided by RefSeq, Feb 2014]
Details
| Type | Protein Coding |
| Official Symbol | ATL3 |
| Official Name | atlastin GTPase 3 [Source:HGNC Symbol;Acc:HGNC:24526] |
| Ensembl ID | ENSG00000184743 |
| Bio databases IDs | |
| Aliases | atlastin GTPase 3 |
| Synonyms | 4633402C03Rik, 5730596K20RIK, atlastin GTPase 3, AW228836, Contig3845 RC, DKFZp564J0863, HSN1F, LOC283241, RGD1309871 |
| 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 ATL3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Guanylate-binding protein, N-terminal domain
- GTPase
- protein binding
- 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.
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
- endoplasmic reticulum tubules
- cellular membrane
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ATL3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ER to Golgi vesicle-mediated transport
- Golgi organization
- protein homooligomerization
- endoplasmic reticulum organization
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum tubular network
- membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- GTP binding
- identical protein binding
- protein binding
- GTPase activity