Gene
nsfa
- ID
- ZDB-GENE-030616-37
- Name
- N-ethylmaleimide-sensitive factor a
- Symbol
- nsfa Nomenclature History
- Previous Names
-
- nsf
- si:bz18k17.1
- wu:fj33g11
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable ATP hydrolysis activity. Acts upstream of or within several processes, including hypothalamus development; neurogenesis; and swim bladder development. Predicted to be located in cytoplasm. Predicted to be active in Golgi stack. Is expressed in several structures, including nervous system; neural rod; neural tube; swim bladder; and trigeminal placode. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy. Orthologous to human NSF (N-ethylmaleimide sensitive factor, vesicle fusing ATPase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7149165 (8 images)
Wild Type Expression Summary
- All Phenotype Data
- 12 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| s364 | unknown | Unknown | Unknown | ENU | |
| sa33226 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa33227 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa44566 | Allele with one point mutation | Unknown | Unknown | ENU | |
| st25 | Allele with one point mutation | Unknown | Missense | ENU | |
| st53 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| tpl6Gt | Transgenic insertion | Unknown | Unknown | DNA | |
| zf3929 | Allele with one point mutation | Exon 8 | Unknown | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 96 | Alliance | Developmental and epileptic encephalopathy 96 | 619340 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | AAA ATPase, AAA+ lid domain | AAA+ ATPase domain | Aspartate decarboxylase-like domain superfamily | ATPase, AAA-type, conserved site | ATPase, AAA-type, core | CDC48, domain 2 | CDC48 domain 2-like superfamily | CDC48, N-terminal subdomain | NSF, AAA+ ATPase lid domain | P-loop containing nucleoside triphosphate hydrolase | Vesicle-fusing ATPase |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PEX3
|
747 | |||||||||||
|
UniProtKB:B7ZV62
|
744 |
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Interactions and Pathways
No data available
Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | RP71-18K17 | ZFIN Curated Data | |
| Encodes | EST | fj33g11 | ||
| Encodes | EST | IMAGE:7149165 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:56054 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:192747 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:198197 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:198446 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001044328 (1) | 3186 nt | ||
| Genomic | GenBank:AL590145 (1) | 135675 nt | ||
| Polypeptide | UniProtKB:A0A8M9PEX3 (1) | 747 aa |
- Bragato, C., Pistocchi, A., Bellipanni, G., Confalonieri, S., Balciunie, J., Monastra, F.M., Carra, S., Vitale, G., Mantecca, P., Cotelli, F., Gaudenzi, G. (2023) Zebrafish dnm1a gene plays a role in the formation of axons and synapses in the nervous tissue. Journal of neuroscience research. 101(8):1345-1359
- Gao, Y., Khan, Y.A., Mo, W., White, K.I., Perkins, M., Pfuetzner, R.A., Trapani, J.G., Brunger, A.T., Nicolson, T. (2023) Sensory deficit screen identifies nsf mutation that differentially affects SNARE recycling and quality control. Cell Reports. 42:112345112345
- Bhandiwad, A.A., Chu, N.C., Semenova, S.A., Holmes, G.A., Burgess, H.A. (2022) A cerebellar-prepontine circuit for tonic immobility triggered by an inescapable threat. Science advances. 8:eabo0549
- Monestime, C.M., Taibi, A., Gates, K.P., Jiang, K., Sirotkin, H.I. (2019) CoRest1 regulates neurogenesis in a stage-dependent manner. Developmental Dynamics : an official publication of the American Association of Anatomists. 248(10):918-930
- Faria, M., Ziv, T., Gómez-Canela, C., Ben-Lulu, S., Prats, E., Novoa-Luna, K.A., Admon, A., Piña, B., Tauler, R., Gómez-Oliván, L.M., Raldúa, D. (2018) Acrylamide acute neurotoxicity in adult zebrafish. Scientific Reports. 8:7918
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Prats, E., Gómez-Canela, C., Ben-Lulu, S., Ziv, T., Padrós, F., Tornero, D., Garcia-Reyero, N., Tauler, R., Admon, A., Raldúa, D. (2017) Modelling acrylamide acute neurotoxicity in zebrafish larvae. Scientific Reports. 7:13952
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- Fontenas, L., De Santis, F., Di Donato, V., Degerny, C., Chambraud, B., Del Bene, F., Tawk, M. (2016) Neuronal Ndrg4 Is Essential for Nodes of Ranvier Organization in Zebrafish. PLoS Genetics. 12:e1006459
- Moravec, C.E., Samuel, J., Weng, W., Wood, I.C., Sirotkin, H.I. (2016) Maternal Rest/Nrsf Regulates Zebrafish Behavior through snap25a/b. The Journal of neuroscience : the official journal of the Society for Neuroscience. 36:9407-19
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