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 enable GTP binding activity and GTPase activity. Acts upstream of or within axon guidance; determination of dorsal identity; and negative regulation of BMP signaling pathway. Located in late endosome. Is expressed in brain; primary motor neurons; skeletal muscle; and spinal cord neural tube. Human ortholog(s) of this gene implicated in hereditary sensory neuropathy type 1D and hereditary spastic paraplegia 3A. 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