Gene
atl1
- ID
- ZDB-GENE-030131-8003
- Name
- atlastin GTPase 1
- Symbol
- atl1 Nomenclature History
- Previous Names
-
- fj46c01
- wu:fj46c01
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to have GTP binding activity and GTPase activity. Involved in determination of dorsal identity and negative regulation of BMP signaling pathway. Localizes to late endosome. Human ortholog(s) of this gene implicated in hereditary sensory neuropathy type 1D and hereditary spastic paraplegia 3A. Is expressed in brain; primary motor neurons; and spinal cord neural tube. Orthologous to human ATL1 (atlastin GTPase 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
hereditary sensory neuropathy type 1D | Alliance | Neuropathy, hereditary sensory, type ID | 613708 |
hereditary spastic paraplegia 3A | Alliance | Spastic paraplegia 3A, autosomal dominant | 182600 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR015894 | Guanylate-binding protein, N-terminal |
Domain | IPR030386 | GB1/RHD3-type guanine nucleotide-binding (G) domain |
Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Homologous_superfamily | IPR036543 | Guanylate-binding protein, C-terminal domain superfamily |
Domain Details Per Protein
Protein | Length | GB1/RHD3-type guanine nucleotide-binding (G) domain | Guanylate-binding protein, C-terminal domain superfamily | Guanylate-binding protein, N-terminal | P-loop containing nucleoside triphosphate hydrolase |
---|---|---|---|---|---|
UniProtKB:B8A6H1
|
554 | ||||
UniProtKB:E9QGX9
|
559 |
Interactions and Pathways
No data available
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab1-atl1 | polyclonal | IgG | Goat |
|
Santa Cruz Biotechnology, Inc.
|
2 |
Plasmids
No data available