Gene
smn1
- ID
- ZDB-GENE-990715-16
- Name
- survival of motor neuron 1, telomeric
- Symbol
- smn1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to have RNA binding activity. Involved in several processes, including neuron projection development; positive regulation of oxidative phosphorylation; and regulation of axon extension involved in axon guidance. Predicted to localize to several cellular components, including SMN complex; nuclear body; and perikaryon. Is expressed in liver and post-vent region. Used to study spinal muscular atrophy. Human ortholog(s) of this gene implicated in Werdnig-Hoffmann disease; adult spinal muscular atrophy; intermediate spinal muscular atrophy; juvenile spinal muscular atrophy; and spinal muscular atrophy. Orthologous to several human genes including SMN2 (survival of motor neuron 2, centromeric).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 13 figures from 10 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 53 figures from 28 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
adult spinal muscular atrophy | Alliance | Spinal muscular atrophy-4 | 271150 |
intermediate spinal muscular atrophy | Alliance | Spinal muscular atrophy-2 | 253550 |
juvenile spinal muscular atrophy | Alliance | Spinal muscular atrophy-3 | 253400 |
Werdnig-Hoffmann disease | Alliance | Spinal muscular atrophy-1 | 253300 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR002999 | Tudor domain |
Domain | IPR010304 | Survival motor neuron, Tudor domain |
Domain | IPR047298 | Survival motor neuron protein, Tudor domain, eumetazoa |
Domain | IPR047313 | Survival motor neuron protein, C-terminal oligomerization domain |
Family | IPR040424 | SMN complex subunit Smn1 |
Domain Details Per Protein
Protein | Length | SMN complex subunit Smn1 | Survival motor neuron protein, C-terminal oligomerization domain | Survival motor neuron protein, Tudor domain, eumetazoa | Survival motor neuron, Tudor domain | Tudor domain |
---|---|---|---|---|---|---|
UniProtKB:Q9W6S8
|
281 |
Interactions and Pathways
No data available
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab2-smn1 | monoclonal | IgG1 | Mouse |
|
Developmental Studies Hybridoma Bank
|
9 | |
Ab3-smn1 | monoclonal | IgG1 | Mouse |
|
BD Biosciences
|
5 | |
Ab1-smn1 | monoclonal | IgG1 | Mouse |
|
Developmental Studies Hybridoma Bank
|
5 |
Plasmids
No data available