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 enable RNA binding activity. Acts upstream of or within several processes, including neuromast regeneration; neuron projection development; and positive regulation of oxidative phosphorylation. Part of protein-containing complex. Is expressed in brain; eye; 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 SMN1 (survival of motor neuron 1, telomeric).
- 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| fh229 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| fh230 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| fh231 | Allele with one point mutation | Unknown | Missense | ENU | |
| hg104 | Allele with one delins | Unknown | Unknown | CRISPR | |
| ns13 | Allele with one delins | Unknown | Unknown | CRISPR | |
| ns14 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| sa14881 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa40538 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| smn1_unrecovered | Allele with one point mutation | Unknown | Unknown | ENU |
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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 |
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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 |
| Domain | IPR049481 | Survival Motor Neuron, Gemin2-binding domain |
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Domain Details Per Protein
| Protein | Length | SMN complex subunit Smn1 | Survival Motor Neuron, Gemin2-binding domain | 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 |
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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 |
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Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-57M14 | ZFIN Curated Data | |
| Encodes | EST | fa12d01 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:73386 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131191 (1) | 1016 nt | ||
| Genomic | GenBank:BX950211 (1) | 134143 nt | ||
| Polypeptide | UniProtKB:Q9W6S8 (1) | 281 aa |
- Casey, M.A., Hill, J.T., Hoshijima, K., Bryan, C.D., Gribble, S.L., Brown, J.T., Chien, C.B., Yost, H.J., Kwan, K.M. (2021) Shutdown corner, a large deletion mutant isolated from a haploid mutagenesis screen in zebrafish. G3 (Bethesda). 12(3):
- Koh, A., Sarusie, M.V., Ohmer, J., Fischer, U., Winkler, C., Wohland, T. (2021) Fluorescence Correlation Spectroscopy Reveals Survival Motor Neuron Oligomerization but No Active Transport in Motor Axons of a Zebrafish Model for Spinal Muscular Atrophy. Frontiers in cell and developmental biology. 9:639904
- Riboldi, G.M., Faravelli, I., Kuwajima, T., Delestrée, N., Dermentzaki, G., De Planell-Saguer, M., Rinchetti, P., Hao, L.T., Beattie, C.C., Corti, S., Przedborski, S., Mentis, G.Z., Lotti, F. (2021) Sumoylation regulates the assembly and activity of the SMN complex. Nature communications. 12:5040
- Tay, S.H., Ellieyana, E.N., Le, Y., Sarusie, M.V., Grimm, C., Ohmer, J., Mathuru, A., Fischer, U., Winkler, C. (2021) A novel zebrafish model for intermediate type spinal muscular atrophy demonstrates importance of Smn for maintenance of mature motor neurons. Human molecular genetics. 30(24):2488-2502
- Pei, W., Xu, L., Chen, Z., Slevin, C.C., Pettie, K.P., Wincovitch, S., NISC Comparative Sequencing Program, Burgess, S.M. (2020) A subset of SMN complex members have a specific role in tissue regeneration via ERBB pathway-mediated proliferation. NPJ Regenerative medicine. 5:6
- Osman, E.Y., Bolding, M.R., Villalón, E., Kaifer, K.A., Lorson, Z.C., Tisdale, S., Hao, Y., Conant, G.C., Pires, J.C., Pellizzoni, L., Lorson, C.L. (2019) Functional characterization of SMN evolution in mouse models of SMA. Scientific Reports. 9:9472
- Janzen, E., Mendoza-Ferreira, N., Hosseinibarkooie, S., Schneider, S., Hupperich, K., Tschanz, T., Grysko, V., Riessland, M., Hammerschmidt, M., Rigo, F., Bennett, C.F., Kye, M.J., Torres-Benito, L., Wirth, B. (2018) CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis. Brain : a journal of neurology. 141(8):2343-2361
- Pei, W., Xu, L., Huang, S.C., Pettie, K., Idol, J., Rissone, A., Jimenez, E., Sinclair, J.W., Slevin, C., Varshney, G.K., Jones, M., Carrington, B., Bishop, K., Huang, H., Sood, R., Lin, S., Burgess, S.M. (2018) Guided genetic screen to identify genes essential in the regeneration of hair cells and other tissues. NPJ Regenerative medicine. 3:11
- Zhao, Y., Liu, Y., Sun, J., Sha, H., Yang, Y., Ye, Q., Yang, Q., Huang, B., Yu, Y., Huang, H. (2018) Acute toxic responses of embryo-larval zebrafish to zinc pyrithione (ZPT) reveal embryological and developmental toxicity. Chemosphere. 205:62-70
- Boyd, P.J., Tu, W.Y., Shorrock, H.K., Groen, E.J.N., Carter, R.N., Powis, R.A., Thomson, S.R., Thomson, D., Graham, L.C., Motyl, A.A.L., Wishart, T.M., Highley, J.R., Morton, N.M., Becker, T., Becker, C.G., Heath, P.R., Gillingwater, T.H. (2017) Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy. PLoS Genetics. 13:e1006744
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